Incidental Mutation 'R0678:Fat4'
ID |
61701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fat4
|
Ensembl Gene |
ENSMUSG00000046743 |
Gene Name |
FAT atypical cadherin 4 |
Synonyms |
6030410K14Rik |
MMRRC Submission |
038863-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0678 (G1)
|
Quality Score |
141 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
38886940-39011985 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38889694 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 912
(I912T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061260]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061260
AA Change: I912T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061836 Gene: ENSMUSG00000046743 AA Change: I912T
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
CA
|
60 |
133 |
4.09e-7 |
SMART |
CA
|
157 |
248 |
4.51e-18 |
SMART |
CA
|
272 |
351 |
7.66e-30 |
SMART |
CA
|
380 |
473 |
2.55e-17 |
SMART |
CA
|
497 |
580 |
8.27e-26 |
SMART |
CA
|
605 |
687 |
6.46e-28 |
SMART |
CA
|
711 |
791 |
1e-24 |
SMART |
CA
|
815 |
891 |
3.78e-20 |
SMART |
CA
|
915 |
994 |
8.6e-24 |
SMART |
CA
|
1018 |
1098 |
7.09e-25 |
SMART |
CA
|
1122 |
1208 |
6.78e-22 |
SMART |
CA
|
1232 |
1313 |
2.63e-28 |
SMART |
CA
|
1337 |
1418 |
7.25e-31 |
SMART |
CA
|
1442 |
1527 |
4.58e-19 |
SMART |
CA
|
1550 |
1629 |
4.52e-9 |
SMART |
CA
|
1651 |
1738 |
1.3e-9 |
SMART |
CA
|
1762 |
1839 |
2.01e-24 |
SMART |
CA
|
1863 |
1942 |
3.11e-21 |
SMART |
CA
|
1966 |
2049 |
5.85e-26 |
SMART |
CA
|
2072 |
2152 |
1.88e-29 |
SMART |
CA
|
2176 |
2257 |
3.06e-29 |
SMART |
CA
|
2282 |
2362 |
2.61e-23 |
SMART |
CA
|
2386 |
2466 |
2.99e-32 |
SMART |
CA
|
2490 |
2568 |
9.92e-6 |
SMART |
CA
|
2588 |
2669 |
6.58e-20 |
SMART |
CA
|
2692 |
2773 |
7.25e-31 |
SMART |
CA
|
2796 |
2872 |
1.69e-22 |
SMART |
CA
|
2896 |
2983 |
3.16e-22 |
SMART |
CA
|
3007 |
3089 |
1.01e-15 |
SMART |
CA
|
3113 |
3194 |
1.25e-25 |
SMART |
CA
|
3218 |
3298 |
7e-15 |
SMART |
CA
|
3322 |
3405 |
3.96e-14 |
SMART |
CA
|
3428 |
3510 |
3.41e-27 |
SMART |
CA
|
3532 |
3614 |
5.64e-19 |
SMART |
EGF
|
3807 |
3862 |
1.78e-2 |
SMART |
EGF_CA
|
3864 |
3900 |
2.36e-16 |
SMART |
EGF_CA
|
3902 |
3938 |
7.99e-14 |
SMART |
EGF
|
3943 |
3976 |
1.24e-1 |
SMART |
LamG
|
3996 |
4144 |
4.08e-19 |
SMART |
EGF
|
4167 |
4200 |
5.88e-3 |
SMART |
LamG
|
4244 |
4375 |
1.76e-23 |
SMART |
EGF
|
4430 |
4464 |
1.41e-5 |
SMART |
low complexity region
|
4514 |
4526 |
N/A |
INTRINSIC |
low complexity region
|
4533 |
4550 |
N/A |
INTRINSIC |
low complexity region
|
4840 |
4849 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153659
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] PHENOTYPE: Homozygous inactivation of this gene leads to neonatal lethality, reduced birth body size, curly tails, kyphosis, small lungs, renal cysts, and defects in sternum and vertebrae morphology, neural tube width, cochlear elongation, stereocilia orientation, kidney development, and intestinal elongation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Egfl7 |
C |
T |
2: 26,590,940 |
R155C |
probably benign |
Het |
H2-M5 |
A |
G |
17: 36,989,142 |
F47L |
possibly damaging |
Het |
H2-T24 |
A |
T |
17: 36,017,441 |
F50Y |
probably damaging |
Het |
Hif1a |
A |
G |
12: 73,944,191 |
|
probably null |
Het |
Ints11 |
T |
C |
4: 155,887,753 |
I405T |
probably damaging |
Het |
Kmt2d |
A |
T |
15: 98,850,413 |
|
probably benign |
Het |
Pld1 |
T |
A |
3: 28,120,784 |
V857D |
probably damaging |
Het |
Rab11fip3 |
G |
A |
17: 26,068,847 |
P111S |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,645,184 |
I35N |
possibly damaging |
Het |
Rnf31 |
C |
A |
14: 55,601,713 |
Y66* |
probably null |
Het |
Sec31a |
T |
C |
5: 100,407,225 |
I45M |
possibly damaging |
Het |
Sele |
T |
C |
1: 164,054,729 |
|
probably null |
Het |
Serpina3i |
G |
T |
12: 104,266,719 |
|
probably null |
Het |
Sp6 |
T |
A |
11: 97,021,781 |
W107R |
probably damaging |
Het |
Sphkap |
A |
T |
1: 83,278,628 |
W467R |
probably benign |
Het |
Thbs1 |
T |
C |
2: 118,122,906 |
F935L |
probably damaging |
Het |
Vmn2r8 |
T |
A |
5: 108,800,546 |
H492L |
probably benign |
Het |
Xrcc2 |
A |
G |
5: 25,698,263 |
S37P |
possibly damaging |
Het |
Zadh2 |
A |
G |
18: 84,095,162 |
E321G |
probably benign |
Het |
Zfand1 |
T |
A |
3: 10,348,517 |
I31L |
probably benign |
Het |
Zfr |
G |
A |
15: 12,184,085 |
D1058N |
probably damaging |
Het |
|
Other mutations in Fat4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00235:Fat4
|
APN |
3 |
38982249 |
missense |
probably damaging |
1.00 |
IGL00509:Fat4
|
APN |
3 |
38889039 |
missense |
probably damaging |
1.00 |
IGL00698:Fat4
|
APN |
3 |
38981145 |
missense |
probably benign |
0.17 |
IGL00934:Fat4
|
APN |
3 |
38890673 |
missense |
probably damaging |
1.00 |
IGL01063:Fat4
|
APN |
3 |
38890579 |
missense |
possibly damaging |
0.80 |
IGL01123:Fat4
|
APN |
3 |
38957269 |
missense |
probably benign |
0.00 |
IGL01313:Fat4
|
APN |
3 |
39007201 |
missense |
possibly damaging |
0.53 |
IGL01328:Fat4
|
APN |
3 |
38980658 |
missense |
probably damaging |
1.00 |
IGL01328:Fat4
|
APN |
3 |
38889991 |
missense |
probably damaging |
1.00 |
IGL01374:Fat4
|
APN |
3 |
38887498 |
missense |
probably damaging |
1.00 |
IGL01412:Fat4
|
APN |
3 |
38891181 |
missense |
probably benign |
0.09 |
IGL01472:Fat4
|
APN |
3 |
38888070 |
missense |
probably damaging |
1.00 |
IGL01514:Fat4
|
APN |
3 |
38949534 |
missense |
possibly damaging |
0.89 |
IGL01548:Fat4
|
APN |
3 |
39009257 |
missense |
probably damaging |
1.00 |
IGL01548:Fat4
|
APN |
3 |
38887758 |
missense |
probably damaging |
0.99 |
IGL01576:Fat4
|
APN |
3 |
38888947 |
missense |
probably damaging |
1.00 |
IGL01591:Fat4
|
APN |
3 |
39010375 |
nonsense |
probably null |
|
IGL01626:Fat4
|
APN |
3 |
38951032 |
missense |
probably damaging |
1.00 |
IGL01746:Fat4
|
APN |
3 |
38991731 |
nonsense |
probably null |
|
IGL01800:Fat4
|
APN |
3 |
38981729 |
missense |
probably damaging |
0.99 |
IGL01815:Fat4
|
APN |
3 |
38888773 |
missense |
probably damaging |
1.00 |
IGL01863:Fat4
|
APN |
3 |
38970619 |
splice site |
probably benign |
|
IGL01917:Fat4
|
APN |
3 |
38889730 |
missense |
possibly damaging |
0.89 |
IGL01936:Fat4
|
APN |
3 |
38979774 |
missense |
probably benign |
0.10 |
IGL02060:Fat4
|
APN |
3 |
39010271 |
missense |
probably damaging |
1.00 |
IGL02103:Fat4
|
APN |
3 |
38889199 |
missense |
probably damaging |
0.97 |
IGL02119:Fat4
|
APN |
3 |
38982939 |
missense |
probably benign |
0.10 |
IGL02124:Fat4
|
APN |
3 |
38888404 |
missense |
probably damaging |
1.00 |
IGL02164:Fat4
|
APN |
3 |
38996205 |
critical splice donor site |
probably null |
|
IGL02182:Fat4
|
APN |
3 |
38890546 |
missense |
probably damaging |
1.00 |
IGL02207:Fat4
|
APN |
3 |
38951263 |
missense |
probably benign |
0.16 |
IGL02210:Fat4
|
APN |
3 |
38891853 |
missense |
probably benign |
0.01 |
IGL02257:Fat4
|
APN |
3 |
39001139 |
missense |
probably benign |
0.09 |
IGL02271:Fat4
|
APN |
3 |
38979919 |
missense |
probably benign |
0.18 |
IGL02305:Fat4
|
APN |
3 |
39009988 |
missense |
probably damaging |
1.00 |
IGL02314:Fat4
|
APN |
3 |
38887630 |
missense |
probably damaging |
1.00 |
IGL02455:Fat4
|
APN |
3 |
38951131 |
missense |
possibly damaging |
0.48 |
IGL02468:Fat4
|
APN |
3 |
38983046 |
missense |
probably benign |
|
IGL02478:Fat4
|
APN |
3 |
38888215 |
missense |
probably damaging |
1.00 |
IGL02480:Fat4
|
APN |
3 |
39010430 |
missense |
probably damaging |
1.00 |
IGL02487:Fat4
|
APN |
3 |
38887245 |
missense |
probably damaging |
1.00 |
IGL02632:Fat4
|
APN |
3 |
39002764 |
missense |
probably benign |
0.04 |
IGL02665:Fat4
|
APN |
3 |
39002836 |
missense |
probably benign |
0.08 |
IGL02674:Fat4
|
APN |
3 |
38983337 |
missense |
probably benign |
0.35 |
IGL02692:Fat4
|
APN |
3 |
38951086 |
missense |
probably damaging |
1.00 |
IGL02710:Fat4
|
APN |
3 |
38890595 |
missense |
probably damaging |
1.00 |
IGL02803:Fat4
|
APN |
3 |
38889295 |
missense |
probably damaging |
1.00 |
IGL02834:Fat4
|
APN |
3 |
38956744 |
missense |
probably damaging |
1.00 |
IGL02891:Fat4
|
APN |
3 |
38951273 |
missense |
probably damaging |
1.00 |
IGL02982:Fat4
|
APN |
3 |
38890843 |
missense |
probably damaging |
1.00 |
IGL02993:Fat4
|
APN |
3 |
38957155 |
missense |
probably damaging |
1.00 |
IGL02996:Fat4
|
APN |
3 |
38958525 |
missense |
probably damaging |
1.00 |
IGL03029:Fat4
|
APN |
3 |
38982591 |
missense |
possibly damaging |
0.46 |
IGL03124:Fat4
|
APN |
3 |
38981552 |
missense |
possibly damaging |
0.61 |
IGL03144:Fat4
|
APN |
3 |
38956859 |
missense |
possibly damaging |
0.68 |
IGL03149:Fat4
|
APN |
3 |
38991685 |
missense |
probably damaging |
1.00 |
IGL03169:Fat4
|
APN |
3 |
38957398 |
missense |
probably benign |
0.02 |
IGL03190:Fat4
|
APN |
3 |
38981241 |
missense |
probably damaging |
1.00 |
IGL03272:Fat4
|
APN |
3 |
39009703 |
missense |
probably benign |
|
IGL03371:Fat4
|
APN |
3 |
38983187 |
missense |
possibly damaging |
0.65 |
IGL03372:Fat4
|
APN |
3 |
38889134 |
missense |
possibly damaging |
0.88 |
IGL03388:Fat4
|
APN |
3 |
38957227 |
missense |
probably damaging |
1.00 |
IGL03394:Fat4
|
APN |
3 |
38892019 |
missense |
probably damaging |
0.99 |
IGL03394:Fat4
|
APN |
3 |
39009364 |
missense |
probably damaging |
1.00 |
IGL03405:Fat4
|
APN |
3 |
38958450 |
missense |
probably benign |
0.02 |
IGL03410:Fat4
|
APN |
3 |
38891176 |
missense |
probably damaging |
1.00 |
Asahi
|
UTSW |
3 |
38981819 |
missense |
probably damaging |
1.00 |
Expulsion
|
UTSW |
3 |
38889649 |
missense |
probably benign |
0.00 |
heineken
|
UTSW |
3 |
38980380 |
missense |
probably damaging |
1.00 |
schlitz
|
UTSW |
3 |
38980659 |
missense |
probably damaging |
1.00 |
PIT4696001:Fat4
|
UTSW |
3 |
38889004 |
missense |
probably benign |
0.04 |
PIT4696001:Fat4
|
UTSW |
3 |
38982357 |
missense |
probably damaging |
0.98 |
R0015:Fat4
|
UTSW |
3 |
38982503 |
missense |
probably damaging |
1.00 |
R0015:Fat4
|
UTSW |
3 |
38982503 |
missense |
probably damaging |
1.00 |
R0078:Fat4
|
UTSW |
3 |
38888931 |
missense |
probably benign |
0.35 |
R0100:Fat4
|
UTSW |
3 |
38980248 |
missense |
probably damaging |
1.00 |
R0100:Fat4
|
UTSW |
3 |
38980248 |
missense |
probably damaging |
1.00 |
R0201:Fat4
|
UTSW |
3 |
38891596 |
missense |
probably damaging |
0.99 |
R0280:Fat4
|
UTSW |
3 |
38890816 |
missense |
probably benign |
|
R0357:Fat4
|
UTSW |
3 |
38891227 |
missense |
probably damaging |
1.00 |
R0409:Fat4
|
UTSW |
3 |
38977413 |
missense |
probably damaging |
1.00 |
R0498:Fat4
|
UTSW |
3 |
38980637 |
missense |
probably benign |
0.00 |
R0502:Fat4
|
UTSW |
3 |
39002924 |
missense |
probably damaging |
0.98 |
R0506:Fat4
|
UTSW |
3 |
38888314 |
missense |
probably benign |
0.00 |
R0532:Fat4
|
UTSW |
3 |
38981721 |
missense |
probably benign |
0.02 |
R0616:Fat4
|
UTSW |
3 |
38942870 |
missense |
probably damaging |
1.00 |
R0630:Fat4
|
UTSW |
3 |
39000172 |
missense |
probably damaging |
1.00 |
R0685:Fat4
|
UTSW |
3 |
39001178 |
missense |
probably benign |
|
R0729:Fat4
|
UTSW |
3 |
39000295 |
splice site |
probably benign |
|
R0748:Fat4
|
UTSW |
3 |
38887828 |
missense |
possibly damaging |
0.67 |
R0811:Fat4
|
UTSW |
3 |
38957474 |
missense |
probably damaging |
1.00 |
R0812:Fat4
|
UTSW |
3 |
38957474 |
missense |
probably damaging |
1.00 |
R0830:Fat4
|
UTSW |
3 |
38999109 |
missense |
probably benign |
0.26 |
R0841:Fat4
|
UTSW |
3 |
38995998 |
missense |
probably damaging |
0.99 |
R0884:Fat4
|
UTSW |
3 |
38982858 |
missense |
possibly damaging |
0.89 |
R1056:Fat4
|
UTSW |
3 |
38891392 |
missense |
probably damaging |
1.00 |
R1066:Fat4
|
UTSW |
3 |
38957227 |
missense |
probably damaging |
1.00 |
R1078:Fat4
|
UTSW |
3 |
38983086 |
missense |
probably benign |
0.10 |
R1084:Fat4
|
UTSW |
3 |
38979825 |
missense |
possibly damaging |
0.88 |
R1118:Fat4
|
UTSW |
3 |
38982942 |
missense |
possibly damaging |
0.88 |
R1213:Fat4
|
UTSW |
3 |
38890371 |
missense |
probably benign |
0.01 |
R1418:Fat4
|
UTSW |
3 |
38890813 |
missense |
probably damaging |
1.00 |
R1475:Fat4
|
UTSW |
3 |
38888323 |
missense |
probably damaging |
1.00 |
R1487:Fat4
|
UTSW |
3 |
38995917 |
missense |
possibly damaging |
0.77 |
R1511:Fat4
|
UTSW |
3 |
38983076 |
missense |
probably damaging |
0.97 |
R1534:Fat4
|
UTSW |
3 |
38890089 |
missense |
probably damaging |
1.00 |
R1558:Fat4
|
UTSW |
3 |
38888986 |
missense |
probably damaging |
1.00 |
R1586:Fat4
|
UTSW |
3 |
38888860 |
missense |
probably damaging |
1.00 |
R1592:Fat4
|
UTSW |
3 |
39007177 |
missense |
probably damaging |
0.99 |
R1655:Fat4
|
UTSW |
3 |
38957318 |
missense |
probably damaging |
0.97 |
R1662:Fat4
|
UTSW |
3 |
38980779 |
missense |
probably damaging |
1.00 |
R1710:Fat4
|
UTSW |
3 |
38951155 |
missense |
probably damaging |
1.00 |
R1731:Fat4
|
UTSW |
3 |
38891310 |
missense |
probably damaging |
1.00 |
R1761:Fat4
|
UTSW |
3 |
38887489 |
missense |
possibly damaging |
0.61 |
R1770:Fat4
|
UTSW |
3 |
39010268 |
missense |
probably damaging |
1.00 |
R1828:Fat4
|
UTSW |
3 |
38983458 |
missense |
probably damaging |
1.00 |
R1835:Fat4
|
UTSW |
3 |
38983571 |
missense |
probably benign |
0.00 |
R1846:Fat4
|
UTSW |
3 |
38982383 |
missense |
probably benign |
0.00 |
R1861:Fat4
|
UTSW |
3 |
39010484 |
missense |
probably benign |
0.09 |
R1871:Fat4
|
UTSW |
3 |
38981072 |
missense |
possibly damaging |
0.63 |
R1981:Fat4
|
UTSW |
3 |
38991664 |
missense |
probably damaging |
1.00 |
R1988:Fat4
|
UTSW |
3 |
38887115 |
missense |
probably benign |
|
R1988:Fat4
|
UTSW |
3 |
38996090 |
missense |
probably damaging |
1.00 |
R2056:Fat4
|
UTSW |
3 |
38891170 |
missense |
possibly damaging |
0.88 |
R2058:Fat4
|
UTSW |
3 |
38891170 |
missense |
possibly damaging |
0.88 |
R2059:Fat4
|
UTSW |
3 |
38891170 |
missense |
possibly damaging |
0.88 |
R2070:Fat4
|
UTSW |
3 |
39010655 |
missense |
probably benign |
0.00 |
R2078:Fat4
|
UTSW |
3 |
38889673 |
missense |
probably damaging |
1.00 |
R2114:Fat4
|
UTSW |
3 |
38981484 |
missense |
probably benign |
0.01 |
R2135:Fat4
|
UTSW |
3 |
38980733 |
missense |
probably damaging |
0.98 |
R2152:Fat4
|
UTSW |
3 |
38983395 |
missense |
probably damaging |
1.00 |
R2153:Fat4
|
UTSW |
3 |
38983395 |
missense |
probably damaging |
1.00 |
R2154:Fat4
|
UTSW |
3 |
38887539 |
missense |
probably damaging |
1.00 |
R2196:Fat4
|
UTSW |
3 |
38981417 |
missense |
probably benign |
0.23 |
R2211:Fat4
|
UTSW |
3 |
38891527 |
missense |
possibly damaging |
0.77 |
R2219:Fat4
|
UTSW |
3 |
39010215 |
missense |
probably damaging |
1.00 |
R2247:Fat4
|
UTSW |
3 |
38892049 |
missense |
probably damaging |
1.00 |
R2263:Fat4
|
UTSW |
3 |
38888989 |
missense |
possibly damaging |
0.93 |
R2264:Fat4
|
UTSW |
3 |
38890422 |
missense |
probably benign |
0.25 |
R2274:Fat4
|
UTSW |
3 |
38995899 |
missense |
possibly damaging |
0.47 |
R2337:Fat4
|
UTSW |
3 |
38980011 |
missense |
probably damaging |
1.00 |
R2343:Fat4
|
UTSW |
3 |
38957105 |
missense |
probably damaging |
0.97 |
R2365:Fat4
|
UTSW |
3 |
38980419 |
missense |
probably benign |
|
R2412:Fat4
|
UTSW |
3 |
38957072 |
missense |
probably benign |
0.05 |
R2883:Fat4
|
UTSW |
3 |
38980804 |
missense |
probably damaging |
1.00 |
R2942:Fat4
|
UTSW |
3 |
38982336 |
missense |
probably damaging |
1.00 |
R2989:Fat4
|
UTSW |
3 |
39007153 |
missense |
probably benign |
|
R3103:Fat4
|
UTSW |
3 |
38891940 |
missense |
probably benign |
0.03 |
R3158:Fat4
|
UTSW |
3 |
38890791 |
missense |
possibly damaging |
0.87 |
R3800:Fat4
|
UTSW |
3 |
38981274 |
missense |
possibly damaging |
0.48 |
R3808:Fat4
|
UTSW |
3 |
38982438 |
missense |
possibly damaging |
0.52 |
R3848:Fat4
|
UTSW |
3 |
39007261 |
missense |
probably benign |
0.10 |
R3850:Fat4
|
UTSW |
3 |
39007261 |
missense |
probably benign |
0.10 |
R3957:Fat4
|
UTSW |
3 |
38982346 |
missense |
probably benign |
|
R4065:Fat4
|
UTSW |
3 |
39009197 |
missense |
probably benign |
0.13 |
R4078:Fat4
|
UTSW |
3 |
38980020 |
missense |
probably damaging |
1.00 |
R4096:Fat4
|
UTSW |
3 |
38887875 |
missense |
possibly damaging |
0.46 |
R4161:Fat4
|
UTSW |
3 |
38942809 |
missense |
possibly damaging |
0.95 |
R4273:Fat4
|
UTSW |
3 |
38891627 |
missense |
probably damaging |
1.00 |
R4285:Fat4
|
UTSW |
3 |
38889171 |
missense |
probably benign |
0.00 |
R4288:Fat4
|
UTSW |
3 |
38891763 |
missense |
probably damaging |
1.00 |
R4407:Fat4
|
UTSW |
3 |
38958540 |
missense |
probably benign |
0.05 |
R4528:Fat4
|
UTSW |
3 |
38891294 |
missense |
probably benign |
0.01 |
R4547:Fat4
|
UTSW |
3 |
38951283 |
missense |
probably damaging |
1.00 |
R4681:Fat4
|
UTSW |
3 |
38887342 |
missense |
probably damaging |
1.00 |
R4826:Fat4
|
UTSW |
3 |
38982957 |
missense |
probably damaging |
1.00 |
R4855:Fat4
|
UTSW |
3 |
38888317 |
missense |
probably benign |
|
R4871:Fat4
|
UTSW |
3 |
38891605 |
missense |
probably damaging |
1.00 |
R4897:Fat4
|
UTSW |
3 |
38980632 |
missense |
probably damaging |
1.00 |
R4928:Fat4
|
UTSW |
3 |
39010465 |
missense |
probably damaging |
1.00 |
R4932:Fat4
|
UTSW |
3 |
39007203 |
missense |
probably benign |
0.00 |
R4941:Fat4
|
UTSW |
3 |
38957452 |
missense |
probably damaging |
1.00 |
R4943:Fat4
|
UTSW |
3 |
38980173 |
missense |
probably benign |
0.19 |
R4959:Fat4
|
UTSW |
3 |
38983046 |
missense |
probably benign |
0.00 |
R4973:Fat4
|
UTSW |
3 |
38983046 |
missense |
probably benign |
0.00 |
R5098:Fat4
|
UTSW |
3 |
38888289 |
missense |
probably benign |
0.34 |
R5163:Fat4
|
UTSW |
3 |
38980797 |
missense |
probably damaging |
1.00 |
R5213:Fat4
|
UTSW |
3 |
38980191 |
missense |
possibly damaging |
0.56 |
R5328:Fat4
|
UTSW |
3 |
38956868 |
missense |
probably damaging |
1.00 |
R5337:Fat4
|
UTSW |
3 |
38891627 |
missense |
probably damaging |
1.00 |
R5337:Fat4
|
UTSW |
3 |
39010378 |
missense |
probably benign |
0.44 |
R5363:Fat4
|
UTSW |
3 |
38888005 |
missense |
probably damaging |
1.00 |
R5380:Fat4
|
UTSW |
3 |
38888864 |
missense |
probably damaging |
1.00 |
R5384:Fat4
|
UTSW |
3 |
38995946 |
missense |
possibly damaging |
0.87 |
R5422:Fat4
|
UTSW |
3 |
38887245 |
missense |
possibly damaging |
0.92 |
R5436:Fat4
|
UTSW |
3 |
38891346 |
missense |
probably benign |
0.00 |
R5443:Fat4
|
UTSW |
3 |
39010370 |
missense |
probably damaging |
1.00 |
R5501:Fat4
|
UTSW |
3 |
38887215 |
missense |
probably benign |
0.09 |
R5571:Fat4
|
UTSW |
3 |
39010274 |
missense |
probably damaging |
1.00 |
R5625:Fat4
|
UTSW |
3 |
38888934 |
missense |
possibly damaging |
0.78 |
R5652:Fat4
|
UTSW |
3 |
39002968 |
missense |
probably damaging |
0.99 |
R5725:Fat4
|
UTSW |
3 |
38889625 |
missense |
probably damaging |
1.00 |
R5735:Fat4
|
UTSW |
3 |
38949576 |
missense |
probably damaging |
1.00 |
R5739:Fat4
|
UTSW |
3 |
38983134 |
missense |
probably benign |
0.01 |
R5766:Fat4
|
UTSW |
3 |
38889468 |
missense |
probably damaging |
1.00 |
R5780:Fat4
|
UTSW |
3 |
38980955 |
missense |
probably damaging |
0.96 |
R5811:Fat4
|
UTSW |
3 |
38891787 |
missense |
probably damaging |
1.00 |
R5829:Fat4
|
UTSW |
3 |
39007305 |
missense |
probably damaging |
1.00 |
R5879:Fat4
|
UTSW |
3 |
38887336 |
missense |
probably benign |
|
R5933:Fat4
|
UTSW |
3 |
38951375 |
critical splice donor site |
probably null |
|
R5938:Fat4
|
UTSW |
3 |
38951239 |
missense |
probably damaging |
1.00 |
R5940:Fat4
|
UTSW |
3 |
38889649 |
missense |
probably benign |
0.00 |
R5945:Fat4
|
UTSW |
3 |
38983206 |
missense |
probably benign |
0.19 |
R5963:Fat4
|
UTSW |
3 |
39010547 |
missense |
probably damaging |
1.00 |
R6077:Fat4
|
UTSW |
3 |
39002802 |
missense |
probably damaging |
1.00 |
R6158:Fat4
|
UTSW |
3 |
38983262 |
missense |
possibly damaging |
0.95 |
R6246:Fat4
|
UTSW |
3 |
38891721 |
missense |
probably damaging |
1.00 |
R6253:Fat4
|
UTSW |
3 |
38951356 |
missense |
probably damaging |
0.99 |
R6259:Fat4
|
UTSW |
3 |
39007246 |
missense |
probably benign |
0.18 |
R6295:Fat4
|
UTSW |
3 |
39007080 |
splice site |
probably null |
|
R6387:Fat4
|
UTSW |
3 |
38983785 |
missense |
probably damaging |
1.00 |
R6390:Fat4
|
UTSW |
3 |
38980380 |
missense |
probably damaging |
1.00 |
R6456:Fat4
|
UTSW |
3 |
38983979 |
missense |
possibly damaging |
0.90 |
R6493:Fat4
|
UTSW |
3 |
38890887 |
missense |
probably damaging |
1.00 |
R6500:Fat4
|
UTSW |
3 |
38981269 |
nonsense |
probably null |
|
R6503:Fat4
|
UTSW |
3 |
38982257 |
missense |
probably benign |
0.00 |
R6519:Fat4
|
UTSW |
3 |
39002871 |
missense |
probably benign |
|
R6566:Fat4
|
UTSW |
3 |
38957126 |
missense |
possibly damaging |
0.78 |
R6576:Fat4
|
UTSW |
3 |
38979690 |
missense |
probably benign |
|
R6590:Fat4
|
UTSW |
3 |
38983539 |
missense |
probably damaging |
1.00 |
R6658:Fat4
|
UTSW |
3 |
38942928 |
missense |
probably benign |
0.01 |
R6662:Fat4
|
UTSW |
3 |
38956821 |
missense |
possibly damaging |
0.95 |
R6690:Fat4
|
UTSW |
3 |
38983539 |
missense |
probably damaging |
1.00 |
R6807:Fat4
|
UTSW |
3 |
38982440 |
missense |
probably benign |
0.18 |
R6823:Fat4
|
UTSW |
3 |
38983939 |
missense |
probably benign |
0.05 |
R6824:Fat4
|
UTSW |
3 |
38957525 |
missense |
probably benign |
0.00 |
R6830:Fat4
|
UTSW |
3 |
38981817 |
missense |
probably benign |
0.00 |
R6925:Fat4
|
UTSW |
3 |
38996204 |
critical splice donor site |
probably null |
|
R6948:Fat4
|
UTSW |
3 |
39009446 |
missense |
probably damaging |
1.00 |
R6970:Fat4
|
UTSW |
3 |
38981775 |
missense |
probably damaging |
1.00 |
R6970:Fat4
|
UTSW |
3 |
38995971 |
missense |
probably damaging |
1.00 |
R7017:Fat4
|
UTSW |
3 |
38891543 |
missense |
probably benign |
|
R7030:Fat4
|
UTSW |
3 |
38981958 |
missense |
probably damaging |
1.00 |
R7044:Fat4
|
UTSW |
3 |
39010810 |
missense |
probably benign |
|
R7044:Fat4
|
UTSW |
3 |
39010811 |
missense |
probably benign |
0.02 |
R7045:Fat4
|
UTSW |
3 |
38888601 |
missense |
probably benign |
0.01 |
R7094:Fat4
|
UTSW |
3 |
38889874 |
missense |
probably damaging |
1.00 |
R7111:Fat4
|
UTSW |
3 |
39010533 |
missense |
probably damaging |
1.00 |
R7130:Fat4
|
UTSW |
3 |
38980787 |
missense |
probably damaging |
0.99 |
R7168:Fat4
|
UTSW |
3 |
38980659 |
missense |
probably damaging |
1.00 |
R7192:Fat4
|
UTSW |
3 |
38980464 |
missense |
probably benign |
0.04 |
R7194:Fat4
|
UTSW |
3 |
38888884 |
missense |
probably damaging |
1.00 |
R7194:Fat4
|
UTSW |
3 |
38983895 |
missense |
probably damaging |
1.00 |
R7199:Fat4
|
UTSW |
3 |
38977362 |
missense |
probably damaging |
0.98 |
R7213:Fat4
|
UTSW |
3 |
38999087 |
missense |
possibly damaging |
0.63 |
R7216:Fat4
|
UTSW |
3 |
38891043 |
missense |
probably damaging |
1.00 |
R7225:Fat4
|
UTSW |
3 |
38980176 |
missense |
possibly damaging |
0.50 |
R7238:Fat4
|
UTSW |
3 |
38890413 |
missense |
probably benign |
0.31 |
R7239:Fat4
|
UTSW |
3 |
38983840 |
missense |
possibly damaging |
0.85 |
R7283:Fat4
|
UTSW |
3 |
38889693 |
missense |
probably damaging |
1.00 |
R7296:Fat4
|
UTSW |
3 |
38889145 |
nonsense |
probably null |
|
R7372:Fat4
|
UTSW |
3 |
38890209 |
missense |
probably damaging |
1.00 |
R7400:Fat4
|
UTSW |
3 |
38887924 |
missense |
probably damaging |
1.00 |
R7419:Fat4
|
UTSW |
3 |
39000236 |
missense |
probably damaging |
1.00 |
R7430:Fat4
|
UTSW |
3 |
38887450 |
missense |
probably damaging |
0.97 |
R7430:Fat4
|
UTSW |
3 |
39009644 |
missense |
probably damaging |
1.00 |
R7431:Fat4
|
UTSW |
3 |
39009157 |
missense |
possibly damaging |
0.80 |
R7486:Fat4
|
UTSW |
3 |
38957427 |
nonsense |
probably null |
|
R7501:Fat4
|
UTSW |
3 |
38958448 |
nonsense |
probably null |
|
R7533:Fat4
|
UTSW |
3 |
39007257 |
missense |
probably benign |
0.43 |
R7542:Fat4
|
UTSW |
3 |
38981355 |
missense |
possibly damaging |
0.56 |
R7542:Fat4
|
UTSW |
3 |
38981621 |
missense |
possibly damaging |
0.64 |
R7548:Fat4
|
UTSW |
3 |
38981114 |
missense |
probably benign |
0.13 |
R7567:Fat4
|
UTSW |
3 |
38889336 |
missense |
probably damaging |
1.00 |
R7644:Fat4
|
UTSW |
3 |
39010241 |
missense |
possibly damaging |
0.64 |
R7660:Fat4
|
UTSW |
3 |
38981160 |
missense |
probably benign |
|
R7665:Fat4
|
UTSW |
3 |
38889178 |
missense |
probably benign |
0.00 |
R7676:Fat4
|
UTSW |
3 |
38891697 |
missense |
probably damaging |
0.98 |
R7832:Fat4
|
UTSW |
3 |
39001204 |
missense |
probably benign |
0.00 |
R7848:Fat4
|
UTSW |
3 |
38887851 |
missense |
probably benign |
|
R7883:Fat4
|
UTSW |
3 |
38981819 |
missense |
probably damaging |
1.00 |
R7892:Fat4
|
UTSW |
3 |
38949439 |
critical splice acceptor site |
probably null |
|
R7904:Fat4
|
UTSW |
3 |
38887541 |
missense |
probably damaging |
1.00 |
R7952:Fat4
|
UTSW |
3 |
38891721 |
missense |
probably damaging |
0.98 |
R8015:Fat4
|
UTSW |
3 |
38981916 |
missense |
possibly damaging |
0.79 |
R8040:Fat4
|
UTSW |
3 |
38981666 |
missense |
probably damaging |
1.00 |
R8142:Fat4
|
UTSW |
3 |
38891203 |
missense |
probably damaging |
1.00 |
R8151:Fat4
|
UTSW |
3 |
38892054 |
missense |
probably damaging |
0.99 |
R8163:Fat4
|
UTSW |
3 |
38979732 |
missense |
possibly damaging |
0.88 |
R8317:Fat4
|
UTSW |
3 |
38958510 |
missense |
possibly damaging |
0.80 |
R8413:Fat4
|
UTSW |
3 |
39008979 |
critical splice acceptor site |
probably null |
|
R8447:Fat4
|
UTSW |
3 |
38979675 |
missense |
possibly damaging |
0.88 |
R8458:Fat4
|
UTSW |
3 |
38981553 |
missense |
probably benign |
0.25 |
R8509:Fat4
|
UTSW |
3 |
38981903 |
missense |
probably benign |
|
R8543:Fat4
|
UTSW |
3 |
38977494 |
missense |
probably damaging |
1.00 |
R8679:Fat4
|
UTSW |
3 |
39010693 |
missense |
probably damaging |
1.00 |
R8726:Fat4
|
UTSW |
3 |
39010498 |
missense |
probably damaging |
1.00 |
R8743:Fat4
|
UTSW |
3 |
38888443 |
missense |
probably benign |
0.16 |
R8751:Fat4
|
UTSW |
3 |
38891853 |
missense |
probably benign |
0.01 |
R8779:Fat4
|
UTSW |
3 |
38979749 |
missense |
probably damaging |
1.00 |
R8797:Fat4
|
UTSW |
3 |
38999129 |
missense |
probably benign |
0.01 |
R8860:Fat4
|
UTSW |
3 |
38892120 |
missense |
probably benign |
0.26 |
R8955:Fat4
|
UTSW |
3 |
38983629 |
missense |
probably benign |
0.01 |
R9053:Fat4
|
UTSW |
3 |
38887175 |
nonsense |
probably null |
|
R9071:Fat4
|
UTSW |
3 |
38983449 |
missense |
probably benign |
0.29 |
R9088:Fat4
|
UTSW |
3 |
39007299 |
missense |
probably benign |
0.02 |
R9100:Fat4
|
UTSW |
3 |
39010654 |
missense |
|
|
R9180:Fat4
|
UTSW |
3 |
38888407 |
missense |
possibly damaging |
0.78 |
R9184:Fat4
|
UTSW |
3 |
38982443 |
missense |
probably damaging |
0.99 |
R9201:Fat4
|
UTSW |
3 |
38890930 |
missense |
probably damaging |
1.00 |
R9206:Fat4
|
UTSW |
3 |
39009241 |
missense |
probably damaging |
0.99 |
R9268:Fat4
|
UTSW |
3 |
38888247 |
missense |
probably damaging |
1.00 |
R9278:Fat4
|
UTSW |
3 |
38891022 |
missense |
probably benign |
0.44 |
R9287:Fat4
|
UTSW |
3 |
38891632 |
missense |
probably damaging |
0.98 |
R9355:Fat4
|
UTSW |
3 |
38981898 |
missense |
probably damaging |
1.00 |
R9437:Fat4
|
UTSW |
3 |
38891268 |
missense |
probably benign |
0.00 |
R9455:Fat4
|
UTSW |
3 |
38891263 |
missense |
|
|
R9456:Fat4
|
UTSW |
3 |
38888422 |
missense |
possibly damaging |
0.50 |
R9476:Fat4
|
UTSW |
3 |
38983737 |
missense |
probably benign |
0.04 |
R9510:Fat4
|
UTSW |
3 |
38983737 |
missense |
probably benign |
0.04 |
R9511:Fat4
|
UTSW |
3 |
38980653 |
missense |
probably damaging |
0.98 |
R9540:Fat4
|
UTSW |
3 |
39009197 |
missense |
probably benign |
|
R9568:Fat4
|
UTSW |
3 |
38892007 |
missense |
probably damaging |
1.00 |
R9646:Fat4
|
UTSW |
3 |
38981664 |
missense |
probably damaging |
1.00 |
R9683:Fat4
|
UTSW |
3 |
38889183 |
missense |
possibly damaging |
0.52 |
R9711:Fat4
|
UTSW |
3 |
39001225 |
missense |
probably benign |
0.00 |
X0017:Fat4
|
UTSW |
3 |
39009106 |
missense |
probably benign |
0.00 |
X0019:Fat4
|
UTSW |
3 |
38981040 |
missense |
probably damaging |
1.00 |
X0020:Fat4
|
UTSW |
3 |
39000151 |
missense |
probably damaging |
1.00 |
X0024:Fat4
|
UTSW |
3 |
38942902 |
missense |
probably benign |
0.43 |
X0064:Fat4
|
UTSW |
3 |
38970752 |
missense |
probably damaging |
1.00 |
Z1088:Fat4
|
UTSW |
3 |
38887050 |
missense |
possibly damaging |
0.88 |
Z1088:Fat4
|
UTSW |
3 |
38958492 |
missense |
probably benign |
0.00 |
Z1176:Fat4
|
UTSW |
3 |
38983359 |
missense |
probably benign |
0.00 |
Z1176:Fat4
|
UTSW |
3 |
38983815 |
missense |
probably damaging |
1.00 |
Z1177:Fat4
|
UTSW |
3 |
38888584 |
missense |
probably damaging |
1.00 |
Z1177:Fat4
|
UTSW |
3 |
38890347 |
missense |
probably damaging |
1.00 |
Z1177:Fat4
|
UTSW |
3 |
38981838 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTATCTCATCACTACCGGGGACCAG -3'
(R):5'- AGCTGAGGGACACCCATATCAGAG -3'
Sequencing Primer
(F):5'- TATGAATCCTGTCACAGGGC -3'
(R):5'- AGAGGCCACGATTTCTACCTG -3'
|
Posted On |
2013-07-30 |