Incidental Mutation 'R1438:Afdn'
ID |
160812 |
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 |
039493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14075652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 940
(F940L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000170827]
[ENSMUST00000150848]
|
AlphaFold |
Q9QZQ1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137495
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137503
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137708
AA Change: F955L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114485 Gene: ENSMUSG00000068036 AA Change: F955L
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 damaging
Transcript: ENSMUST00000137784
AA Change: F962L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: F962L
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 damaging
Transcript: ENSMUST00000139666
AA Change: F955L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: F955L
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 |
noncoding transcript
Transcript: ENSMUST00000141640
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170827
AA Change: F940L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: F940L
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 damaging
Transcript: ENSMUST00000150848
AA Change: F940L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: F940L
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 |
0.3765 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
Validation Efficiency |
99% (80/81) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
T |
5: 137,552,871 (GRCm39) |
I67F |
probably damaging |
Het |
Adam24 |
A |
T |
8: 41,134,431 (GRCm39) |
N633I |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,344,585 (GRCm39) |
S123G |
possibly damaging |
Het |
Ahrr |
A |
T |
13: 74,372,987 (GRCm39) |
Y26* |
probably null |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Aox3 |
A |
T |
1: 58,192,337 (GRCm39) |
T536S |
probably benign |
Het |
Boc |
A |
T |
16: 44,309,109 (GRCm39) |
|
probably null |
Het |
Cchcr1 |
T |
C |
17: 35,841,457 (GRCm39) |
|
probably null |
Het |
Cct2 |
A |
T |
10: 116,890,897 (GRCm39) |
|
probably benign |
Het |
Cd84 |
A |
T |
1: 171,679,685 (GRCm39) |
Y121F |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,738,433 (GRCm39) |
C275* |
probably null |
Het |
Chchd3 |
C |
A |
6: 32,985,503 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,007,971 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,691,253 (GRCm39) |
K1131E |
probably damaging |
Het |
Dek |
A |
T |
13: 47,241,647 (GRCm39) |
S306T |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,339,069 (GRCm39) |
E322G |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,204,673 (GRCm39) |
D941V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,876,009 (GRCm39) |
N2559S |
probably benign |
Het |
Dnajc3 |
A |
G |
14: 119,205,518 (GRCm39) |
T171A |
probably benign |
Het |
Eftud2 |
G |
T |
11: 102,750,868 (GRCm39) |
F308L |
probably damaging |
Het |
Elp6 |
T |
C |
9: 110,143,123 (GRCm39) |
F95S |
probably damaging |
Het |
Emsy |
C |
T |
7: 98,270,613 (GRCm39) |
V450I |
possibly damaging |
Het |
Exoc3 |
A |
T |
13: 74,338,298 (GRCm39) |
M362K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,178,637 (GRCm39) |
D1474E |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,803,158 (GRCm39) |
C1587* |
probably null |
Het |
Fosl2 |
T |
A |
5: 32,304,329 (GRCm39) |
L88Q |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,198,621 (GRCm39) |
D381G |
probably benign |
Het |
Golim4 |
A |
C |
3: 75,863,440 (GRCm39) |
S56A |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,093 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,651,770 (GRCm39) |
I409V |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,311,596 (GRCm39) |
T1279A |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,569 (GRCm39) |
Q349L |
possibly damaging |
Het |
Kcnc1 |
A |
T |
7: 46,077,691 (GRCm39) |
I498F |
possibly damaging |
Het |
Kctd21 |
T |
A |
7: 96,996,704 (GRCm39) |
I59N |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,824,593 (GRCm39) |
T2577S |
probably benign |
Het |
Mief2 |
G |
T |
11: 60,621,140 (GRCm39) |
R9M |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,453,705 (GRCm39) |
V442A |
probably benign |
Het |
Nkapd1 |
C |
A |
9: 50,518,972 (GRCm39) |
K213N |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,298,909 (GRCm39) |
R477W |
probably damaging |
Het |
Or12e7 |
A |
G |
2: 87,288,336 (GRCm39) |
T276A |
probably benign |
Het |
Or7a41 |
T |
A |
10: 78,871,122 (GRCm39) |
V164E |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,418,807 (GRCm39) |
T656A |
probably benign |
Het |
Pcdhb19 |
A |
G |
18: 37,631,015 (GRCm39) |
D270G |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,101,142 (GRCm39) |
D470G |
possibly damaging |
Het |
Prdm1 |
T |
C |
10: 44,318,124 (GRCm39) |
E248G |
probably benign |
Het |
Prtg |
C |
T |
9: 72,818,032 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,818,529 (GRCm39) |
Y424H |
probably damaging |
Het |
Ptprr |
T |
C |
10: 116,092,109 (GRCm39) |
V369A |
probably damaging |
Het |
Rai1 |
T |
G |
11: 60,076,221 (GRCm39) |
V95G |
probably benign |
Het |
Rasal3 |
T |
A |
17: 32,612,509 (GRCm39) |
|
probably null |
Het |
Rbm19 |
A |
G |
5: 120,260,961 (GRCm39) |
E195G |
probably benign |
Het |
Rhbdd3 |
T |
A |
11: 5,053,332 (GRCm39) |
L44Q |
probably damaging |
Het |
Ripply2 |
T |
C |
9: 86,901,713 (GRCm39) |
W80R |
probably damaging |
Het |
Rnf183 |
A |
G |
4: 62,346,760 (GRCm39) |
C13R |
probably damaging |
Het |
Rorb |
A |
G |
19: 18,932,417 (GRCm39) |
L367P |
probably damaging |
Het |
Rpl7a-ps5 |
C |
T |
17: 58,146,135 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,114,581 (GRCm39) |
N647D |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,351,187 (GRCm39) |
S341T |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,588,046 (GRCm39) |
S2632G |
probably benign |
Het |
Scube1 |
A |
G |
15: 83,499,227 (GRCm39) |
C633R |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,024,078 (GRCm39) |
I723F |
probably damaging |
Het |
Sec23a |
A |
T |
12: 59,048,796 (GRCm39) |
C109S |
probably damaging |
Het |
Septin11 |
T |
C |
5: 93,296,287 (GRCm39) |
F60L |
probably damaging |
Het |
Sgf29 |
G |
A |
7: 126,271,063 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
G |
4: 113,413,308 (GRCm39) |
|
probably benign |
Het |
Smo |
G |
A |
6: 29,755,482 (GRCm39) |
V385I |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 84,000,837 (GRCm39) |
T76I |
probably damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,422 (GRCm39) |
H213L |
possibly damaging |
Het |
Thoc5 |
A |
T |
11: 4,861,427 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,424,634 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
G |
15: 75,546,247 (GRCm39) |
L78P |
probably damaging |
Het |
Uvssa |
T |
A |
5: 33,571,228 (GRCm39) |
|
probably benign |
Het |
Vmn2r50 |
A |
T |
7: 9,784,062 (GRCm39) |
C137* |
probably null |
Het |
Vmn2r81 |
A |
G |
10: 79,129,691 (GRCm39) |
T861A |
probably benign |
Het |
Wnt3 |
A |
T |
11: 103,699,077 (GRCm39) |
N61I |
probably damaging |
Het |
Zswim9 |
A |
G |
7: 13,011,144 (GRCm39) |
I68T |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,803,771 (GRCm39) |
I2535T |
probably damaging |
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 |
|
R0310:Afdn
|
UTSW |
17 |
14,105,770 (GRCm39) |
critical splice donor 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 |
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'- ATTGCTCCCCTGAGGTCACATCTG -3'
(R):5'- AACACACCCACATGGGGTCATGTC -3'
Sequencing Primer
(F):5'- AGTGAGCATCTCTTGATGAGTCC -3'
(R):5'- ATTCTGCAGGCCTGTTATCC -3'
|
Posted On |
2014-03-14 |