Incidental Mutation 'R0310:Afdn'
ID |
25263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afdn
|
Ensembl Gene |
ENSMUSG00000068036 |
Gene Name |
afadin, adherens junction formation factor |
Synonyms |
Mllt4, AF6, S-afadin, Afadin, I-afadin, 5033403D15Rik |
MMRRC Submission |
038520-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0310 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to T
at 14105770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
AlphaFold |
Q9QZQ1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123030
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136087
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137531
|
SMART Domains |
Protein: ENSMUSP00000116711 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
coiled coil region
|
70 |
110 |
N/A |
INTRINSIC |
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
coiled coil region
|
163 |
224 |
N/A |
INTRINSIC |
low complexity region
|
252 |
266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137708
|
SMART Domains |
Protein: ENSMUSP00000114485 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
785 |
891 |
4.11e-39 |
SMART |
PDZ
|
1016 |
1093 |
8.07e-19 |
SMART |
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1392 |
N/A |
INTRINSIC |
coiled coil region
|
1409 |
1447 |
N/A |
INTRINSIC |
coiled coil region
|
1523 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1587 |
N/A |
INTRINSIC |
coiled coil region
|
1616 |
1660 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137784
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
792 |
898 |
4.11e-39 |
SMART |
PDZ
|
1023 |
1100 |
8.07e-19 |
SMART |
low complexity region
|
1316 |
1325 |
N/A |
INTRINSIC |
low complexity region
|
1393 |
1399 |
N/A |
INTRINSIC |
coiled coil region
|
1416 |
1454 |
N/A |
INTRINSIC |
coiled coil region
|
1530 |
1570 |
N/A |
INTRINSIC |
low complexity region
|
1582 |
1594 |
N/A |
INTRINSIC |
coiled coil region
|
1600 |
1672 |
N/A |
INTRINSIC |
low complexity region
|
1699 |
1713 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139666
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
425 |
477 |
1.24e-5 |
SMART |
DIL
|
785 |
891 |
4.11e-39 |
SMART |
PDZ
|
1016 |
1093 |
8.07e-19 |
SMART |
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
low complexity region
|
1386 |
1392 |
N/A |
INTRINSIC |
coiled coil region
|
1409 |
1447 |
N/A |
INTRINSIC |
coiled coil region
|
1523 |
1563 |
N/A |
INTRINSIC |
low complexity region
|
1575 |
1587 |
N/A |
INTRINSIC |
coiled coil region
|
1593 |
1665 |
N/A |
INTRINSIC |
low complexity region
|
1692 |
1706 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150848
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
410 |
462 |
1.24e-5 |
SMART |
DIL
|
770 |
876 |
4.11e-39 |
SMART |
PDZ
|
1001 |
1078 |
8.07e-19 |
SMART |
low complexity region
|
1294 |
1303 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1377 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1432 |
N/A |
INTRINSIC |
coiled coil region
|
1508 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1572 |
N/A |
INTRINSIC |
coiled coil region
|
1578 |
1650 |
N/A |
INTRINSIC |
low complexity region
|
1677 |
1691 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170827
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036
Domain | Start | End | E-Value | Type |
RA
|
39 |
133 |
5.88e-29 |
SMART |
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
RA
|
246 |
348 |
1.56e-24 |
SMART |
FHA
|
410 |
462 |
1.24e-5 |
SMART |
DIL
|
770 |
876 |
4.11e-39 |
SMART |
PDZ
|
1001 |
1078 |
8.07e-19 |
SMART |
low complexity region
|
1294 |
1303 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1377 |
N/A |
INTRINSIC |
coiled coil region
|
1394 |
1432 |
N/A |
INTRINSIC |
coiled coil region
|
1508 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1560 |
1572 |
N/A |
INTRINSIC |
coiled coil region
|
1578 |
1650 |
N/A |
INTRINSIC |
low complexity region
|
1677 |
1691 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9584 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 93.3%
- 20x: 82.5%
|
Validation Efficiency |
99% (113/114) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011] PHENOTYPE: Homozygous null mice display embryonic lethality, abnormal ectoderm development including disrupted cell junctions, and absence of the somites, notochord, allantois, and neural folds. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
A |
C |
9: 53,336,971 (GRCm39) |
T92P |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,243,810 (GRCm39) |
V1891A |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,228,791 (GRCm39) |
I346N |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,264,678 (GRCm39) |
D507G |
probably damaging |
Het |
Akap8 |
A |
T |
17: 32,535,234 (GRCm39) |
M260K |
possibly damaging |
Het |
Akr1b8 |
T |
C |
6: 34,342,194 (GRCm39) |
V265A |
probably benign |
Het |
Alpk3 |
C |
G |
7: 80,728,358 (GRCm39) |
P496R |
possibly damaging |
Het |
Ankrd13b |
A |
G |
11: 77,363,571 (GRCm39) |
V249A |
possibly damaging |
Het |
Arid4a |
T |
C |
12: 71,122,604 (GRCm39) |
V995A |
probably benign |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,977,653 (GRCm39) |
A499V |
probably damaging |
Het |
Barhl2 |
G |
T |
5: 106,605,253 (GRCm39) |
A152E |
possibly damaging |
Het |
Bbs12 |
T |
A |
3: 37,375,194 (GRCm39) |
D547E |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,981,934 (GRCm39) |
M1655V |
probably damaging |
Het |
Ccdc50 |
T |
A |
16: 27,225,408 (GRCm39) |
H40Q |
probably damaging |
Het |
Ccr9 |
A |
T |
9: 123,603,617 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
A |
G |
8: 123,592,175 (GRCm39) |
D654G |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,233,553 (GRCm39) |
D758G |
probably damaging |
Het |
Cgn |
C |
T |
3: 94,672,960 (GRCm39) |
R906K |
possibly damaging |
Het |
Chil3 |
T |
A |
3: 106,067,839 (GRCm39) |
M109L |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,569,148 (GRCm39) |
|
probably null |
Het |
Cyp4f18 |
C |
T |
8: 72,754,856 (GRCm39) |
|
probably benign |
Het |
Daam2 |
A |
G |
17: 49,770,952 (GRCm39) |
|
probably null |
Het |
Ddost |
T |
A |
4: 138,037,922 (GRCm39) |
H220Q |
probably benign |
Het |
Dennd2a |
C |
T |
6: 39,441,135 (GRCm39) |
|
probably benign |
Het |
Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
Dnaaf4 |
A |
T |
9: 72,879,618 (GRCm39) |
D386V |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,299,256 (GRCm39) |
R1539S |
probably benign |
Het |
Dusp22 |
T |
C |
13: 30,889,641 (GRCm39) |
I74T |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,440,202 (GRCm39) |
|
probably benign |
Het |
Epha7 |
A |
G |
4: 28,961,301 (GRCm39) |
I845V |
probably benign |
Het |
Fanci |
C |
T |
7: 79,057,165 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,205,564 (GRCm39) |
E1104V |
probably damaging |
Het |
Fbxo8 |
T |
A |
8: 57,043,132 (GRCm39) |
F205L |
probably damaging |
Het |
Fcgbpl1 |
G |
T |
7: 27,841,699 (GRCm39) |
V545L |
probably benign |
Het |
Fetub |
T |
C |
16: 22,748,506 (GRCm39) |
|
probably benign |
Het |
Frs3 |
T |
C |
17: 48,014,747 (GRCm39) |
V480A |
probably benign |
Het |
Gne |
C |
A |
4: 44,060,157 (GRCm39) |
E79* |
probably null |
Het |
Hrc |
T |
A |
7: 44,985,921 (GRCm39) |
H357Q |
probably benign |
Het |
Idh1 |
T |
C |
1: 65,201,079 (GRCm39) |
M291V |
probably damaging |
Het |
Il22b |
T |
A |
10: 118,129,090 (GRCm39) |
H133L |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,101,072 (GRCm39) |
E165G |
probably damaging |
Het |
Inppl1 |
A |
T |
7: 101,477,706 (GRCm39) |
|
probably benign |
Het |
Ints15 |
G |
T |
5: 143,293,643 (GRCm39) |
T278K |
probably benign |
Het |
Ip6k2 |
T |
C |
9: 108,676,432 (GRCm39) |
|
probably benign |
Het |
Itga11 |
A |
T |
9: 62,667,628 (GRCm39) |
I654F |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,876,997 (GRCm39) |
|
probably benign |
Het |
Katna1 |
G |
T |
10: 7,619,513 (GRCm39) |
|
probably benign |
Het |
Kcnh4 |
G |
T |
11: 100,636,995 (GRCm39) |
S707Y |
probably benign |
Het |
Kcnn2 |
T |
G |
18: 45,693,585 (GRCm39) |
L387R |
probably damaging |
Het |
Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
Lama5 |
G |
T |
2: 179,823,359 (GRCm39) |
|
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,806,654 (GRCm39) |
|
probably benign |
Het |
Mast4 |
A |
T |
13: 102,890,669 (GRCm39) |
S870T |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,058,400 (GRCm39) |
Y266H |
probably benign |
Het |
Med13 |
A |
T |
11: 86,236,829 (GRCm39) |
N109K |
probably benign |
Het |
Mgam |
T |
C |
6: 40,737,969 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,561,455 (GRCm39) |
Q153R |
probably benign |
Het |
Mpeg1 |
C |
A |
19: 12,439,055 (GRCm39) |
T171N |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,043,829 (GRCm39) |
S806P |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,285,350 (GRCm39) |
E1226V |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,444,721 (GRCm39) |
F246L |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,602,989 (GRCm39) |
I1187V |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,344,529 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
C |
A |
9: 110,467,231 (GRCm39) |
V653L |
probably damaging |
Het |
Ndufa9 |
G |
T |
6: 126,804,495 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
G |
T |
7: 23,129,582 (GRCm39) |
C883F |
probably damaging |
Het |
Nr0b2 |
C |
A |
4: 133,283,303 (GRCm39) |
|
probably null |
Het |
Or1m1 |
T |
A |
9: 18,666,629 (GRCm39) |
M101L |
possibly damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,600 (GRCm39) |
V201E |
probably damaging |
Het |
Or6c69c |
G |
A |
10: 129,910,692 (GRCm39) |
V138I |
probably benign |
Het |
Or8b101 |
T |
A |
9: 38,020,782 (GRCm39) |
S267T |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,620,046 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,134 (GRCm39) |
|
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,456,794 (GRCm39) |
K237R |
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,184,603 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,204,958 (GRCm39) |
D734E |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,065,528 (GRCm39) |
C1283R |
probably damaging |
Het |
Rbm12 |
A |
G |
2: 155,937,644 (GRCm39) |
|
probably benign |
Het |
Rttn |
A |
T |
18: 89,027,584 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
G |
T |
5: 113,411,571 (GRCm39) |
H431Q |
probably benign |
Het |
Siah3 |
A |
G |
14: 75,763,367 (GRCm39) |
N206S |
possibly damaging |
Het |
Slc22a15 |
G |
T |
3: 101,767,827 (GRCm39) |
D521E |
probably benign |
Het |
Sprr2k |
A |
T |
3: 92,340,770 (GRCm39) |
|
probably benign |
Het |
Stab2 |
G |
A |
10: 86,803,477 (GRCm39) |
|
probably benign |
Het |
Sval3 |
T |
A |
6: 41,945,120 (GRCm39) |
L16Q |
probably damaging |
Het |
Sycp2 |
C |
G |
2: 178,023,648 (GRCm39) |
S456T |
probably benign |
Het |
Tk1 |
T |
C |
11: 117,707,921 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
C |
A |
11: 105,145,799 (GRCm39) |
A335E |
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,151,079 (GRCm39) |
K659E |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,499,408 (GRCm39) |
P907L |
probably benign |
Het |
Trim14 |
C |
A |
4: 46,522,043 (GRCm39) |
K211N |
probably damaging |
Het |
Trim15 |
A |
C |
17: 37,177,878 (GRCm39) |
L39R |
probably damaging |
Het |
Tspan15 |
T |
A |
10: 62,023,872 (GRCm39) |
T269S |
probably benign |
Het |
Ttc7 |
T |
A |
17: 87,669,292 (GRCm39) |
D646E |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,038,382 (GRCm39) |
Q410L |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,027,666 (GRCm39) |
Q419R |
probably damaging |
Het |
Vcam1 |
A |
T |
3: 115,908,065 (GRCm39) |
Y666N |
possibly damaging |
Het |
Vmn1r10 |
A |
T |
6: 57,090,486 (GRCm39) |
Y26F |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,775 (GRCm39) |
N295S |
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,509,917 (GRCm39) |
H854Q |
probably benign |
Het |
Vmn2r2 |
A |
T |
3: 64,042,039 (GRCm39) |
D225E |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,296,855 (GRCm39) |
Y643* |
probably null |
Het |
Vmn2r52 |
T |
A |
7: 9,893,393 (GRCm39) |
Y582F |
probably damaging |
Het |
Vmn2r60 |
G |
T |
7: 41,844,564 (GRCm39) |
L642F |
possibly damaging |
Het |
Zbtb20 |
T |
C |
16: 43,430,109 (GRCm39) |
S207P |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
Zkscan7 |
G |
T |
9: 122,717,958 (GRCm39) |
E118* |
probably null |
Het |
|
Other mutations in Afdn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Afdn
|
APN |
17 |
14,104,890 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00784:Afdn
|
APN |
17 |
14,069,525 (GRCm39) |
splice site |
probably benign |
|
IGL00971:Afdn
|
APN |
17 |
14,072,575 (GRCm39) |
splice site |
probably benign |
|
IGL01403:Afdn
|
APN |
17 |
14,124,132 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01944:Afdn
|
APN |
17 |
14,030,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02474:Afdn
|
APN |
17 |
14,038,491 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02615:Afdn
|
APN |
17 |
14,046,238 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02664:Afdn
|
APN |
17 |
14,072,728 (GRCm39) |
splice site |
probably benign |
|
IGL03036:Afdn
|
APN |
17 |
14,108,350 (GRCm39) |
missense |
probably benign |
0.12 |
jubilee
|
UTSW |
17 |
14,108,248 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03134:Afdn
|
UTSW |
17 |
14,066,548 (GRCm39) |
missense |
probably benign |
0.04 |
R0112:Afdn
|
UTSW |
17 |
14,104,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Afdn
|
UTSW |
17 |
14,119,408 (GRCm39) |
missense |
probably benign |
0.00 |
R0305:Afdn
|
UTSW |
17 |
14,108,776 (GRCm39) |
splice site |
probably null |
|
R0711:Afdn
|
UTSW |
17 |
14,072,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Afdn
|
UTSW |
17 |
14,124,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1268:Afdn
|
UTSW |
17 |
14,108,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1317:Afdn
|
UTSW |
17 |
14,066,535 (GRCm39) |
missense |
probably benign |
0.11 |
R1386:Afdn
|
UTSW |
17 |
14,066,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1438:Afdn
|
UTSW |
17 |
14,075,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Afdn
|
UTSW |
17 |
14,030,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Afdn
|
UTSW |
17 |
14,071,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Afdn
|
UTSW |
17 |
14,101,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1880:Afdn
|
UTSW |
17 |
14,072,615 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2049:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2140:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2142:Afdn
|
UTSW |
17 |
14,030,695 (GRCm39) |
missense |
probably damaging |
0.96 |
R2162:Afdn
|
UTSW |
17 |
14,116,436 (GRCm39) |
missense |
probably benign |
0.01 |
R2221:Afdn
|
UTSW |
17 |
14,103,999 (GRCm39) |
splice site |
probably benign |
|
R2223:Afdn
|
UTSW |
17 |
14,103,999 (GRCm39) |
splice site |
probably benign |
|
R2291:Afdn
|
UTSW |
17 |
14,109,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R2993:Afdn
|
UTSW |
17 |
14,111,262 (GRCm39) |
critical splice donor site |
probably null |
|
R3402:Afdn
|
UTSW |
17 |
14,104,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R3403:Afdn
|
UTSW |
17 |
14,104,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Afdn
|
UTSW |
17 |
14,108,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3691:Afdn
|
UTSW |
17 |
14,108,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3764:Afdn
|
UTSW |
17 |
14,066,851 (GRCm39) |
missense |
probably benign |
0.07 |
R3832:Afdn
|
UTSW |
17 |
14,116,436 (GRCm39) |
missense |
probably benign |
0.01 |
R4002:Afdn
|
UTSW |
17 |
14,104,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4440:Afdn
|
UTSW |
17 |
14,071,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4621:Afdn
|
UTSW |
17 |
14,109,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Afdn
|
UTSW |
17 |
14,111,228 (GRCm39) |
missense |
probably benign |
0.30 |
R5279:Afdn
|
UTSW |
17 |
14,109,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R5421:Afdn
|
UTSW |
17 |
14,052,668 (GRCm39) |
missense |
probably benign |
0.25 |
R5689:Afdn
|
UTSW |
17 |
14,075,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Afdn
|
UTSW |
17 |
14,030,707 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6369:Afdn
|
UTSW |
17 |
14,055,605 (GRCm39) |
nonsense |
probably null |
|
R6433:Afdn
|
UTSW |
17 |
14,101,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6467:Afdn
|
UTSW |
17 |
14,024,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Afdn
|
UTSW |
17 |
14,042,634 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6564:Afdn
|
UTSW |
17 |
14,116,351 (GRCm39) |
missense |
probably benign |
|
R6705:Afdn
|
UTSW |
17 |
14,108,283 (GRCm39) |
missense |
probably benign |
0.01 |
R6733:Afdn
|
UTSW |
17 |
14,043,615 (GRCm39) |
missense |
probably benign |
0.39 |
R6983:Afdn
|
UTSW |
17 |
14,101,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:Afdn
|
UTSW |
17 |
14,111,074 (GRCm39) |
splice site |
probably null |
|
R7161:Afdn
|
UTSW |
17 |
14,109,208 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7175:Afdn
|
UTSW |
17 |
14,108,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Afdn
|
UTSW |
17 |
14,068,638 (GRCm39) |
critical splice donor site |
probably null |
|
R7567:Afdn
|
UTSW |
17 |
14,109,070 (GRCm39) |
missense |
probably benign |
0.19 |
R7581:Afdn
|
UTSW |
17 |
14,069,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R7694:Afdn
|
UTSW |
17 |
14,109,144 (GRCm39) |
missense |
probably damaging |
0.99 |
R7722:Afdn
|
UTSW |
17 |
14,029,231 (GRCm39) |
missense |
probably benign |
0.40 |
R7794:Afdn
|
UTSW |
17 |
14,102,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Afdn
|
UTSW |
17 |
14,119,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R8444:Afdn
|
UTSW |
17 |
14,104,062 (GRCm39) |
missense |
probably benign |
0.31 |
R8694:Afdn
|
UTSW |
17 |
14,108,641 (GRCm39) |
missense |
probably benign |
|
R8728:Afdn
|
UTSW |
17 |
14,119,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R8770:Afdn
|
UTSW |
17 |
14,104,199 (GRCm39) |
critical splice donor site |
probably null |
|
R8887:Afdn
|
UTSW |
17 |
14,116,401 (GRCm39) |
nonsense |
probably null |
|
R9101:Afdn
|
UTSW |
17 |
14,043,706 (GRCm39) |
missense |
probably damaging |
0.99 |
R9169:Afdn
|
UTSW |
17 |
14,072,627 (GRCm39) |
missense |
probably benign |
0.02 |
R9275:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Afdn
|
UTSW |
17 |
14,024,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R9573:Afdn
|
UTSW |
17 |
14,050,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R9619:Afdn
|
UTSW |
17 |
14,101,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Afdn
|
UTSW |
17 |
14,066,782 (GRCm39) |
missense |
probably benign |
0.00 |
R9797:Afdn
|
UTSW |
17 |
14,066,562 (GRCm39) |
missense |
probably benign |
|
X0060:Afdn
|
UTSW |
17 |
14,038,432 (GRCm39) |
nonsense |
probably null |
|
X0064:Afdn
|
UTSW |
17 |
14,108,289 (GRCm39) |
missense |
possibly damaging |
0.60 |
Z1088:Afdn
|
UTSW |
17 |
14,104,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTACAGGAGCAGTCCCCTCCAC -3'
(R):5'- GTCTCAGTGCAAGCTATGCCAGTC -3'
Sequencing Primer
(F):5'- CCCAGACCTGAAGCCTATCC -3'
(R):5'- GTGATCTAGTCTGATCCCAGGAAC -3'
|
Posted On |
2013-04-16 |