Incidental Mutation 'R1819:Afdn'
| ID |
204745 |
| 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 |
039847-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1819 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14071110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 783
(T783A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000170827]
|
| AlphaFold |
Q9QZQ1 |
| PDB Structure |
Solution structure of the FHA domain of mouse Afadin 6 [SOLUTION NMR]
Solution Structure of Ras-binding Domain in Mouse AF-6 Protein [SOLUTION NMR]
Crystal structure of afadin PDZ domain in complex with the C-terminal peptide from nectin-3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137503
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137708
AA Change: T783A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: T783A
| 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: T790A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: T790A
| 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: T783A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: T783A
| 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: ENSMUST00000150848
AA Change: T768A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: T768A
| 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: ENSMUST00000170827
AA Change: T768A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: T768A
| 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 |
0.6641 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (91/91) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,871,882 (GRCm39) |
|
probably null |
Het |
| Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
| Acad11 |
G |
A |
9: 103,991,738 (GRCm39) |
|
probably null |
Het |
| Adgrf1 |
C |
A |
17: 43,620,924 (GRCm39) |
T387K |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,453 (GRCm39) |
M359K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,010,074 (GRCm39) |
S547P |
probably benign |
Het |
| Bace1 |
A |
T |
9: 45,768,460 (GRCm39) |
T252S |
possibly damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,575 (GRCm39) |
S230P |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,210,111 (GRCm39) |
F778L |
possibly damaging |
Het |
| Capn2 |
T |
A |
1: 182,300,162 (GRCm39) |
K609N |
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,426,391 (GRCm39) |
I242N |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,926,195 (GRCm39) |
E1135G |
possibly damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,110,047 (GRCm39) |
Q385* |
probably null |
Het |
| Cdh10 |
G |
T |
15: 18,992,051 (GRCm39) |
G437* |
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,163,285 (GRCm39) |
Q316L |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,228 (GRCm39) |
T77A |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,571,232 (GRCm39) |
M267K |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,617,131 (GRCm39) |
D1930G |
possibly damaging |
Het |
| Cyp2j11 |
A |
T |
4: 96,185,976 (GRCm39) |
V403D |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,673 (GRCm39) |
R296C |
possibly damaging |
Het |
| Ddx59 |
A |
G |
1: 136,360,245 (GRCm39) |
I420V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,246,546 (GRCm39) |
L628* |
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,598,307 (GRCm39) |
D1409E |
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,778,480 (GRCm39) |
W377R |
probably damaging |
Het |
| E330034G19Rik |
A |
G |
14: 24,348,081 (GRCm39) |
D111G |
probably damaging |
Het |
| Erich4 |
C |
T |
7: 25,314,715 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,784,708 (GRCm39) |
R256L |
probably benign |
Het |
| Fdxr |
A |
T |
11: 115,166,930 (GRCm39) |
F53Y |
probably damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,306,715 (GRCm39) |
A36S |
probably benign |
Het |
| Foxo3 |
A |
T |
10: 42,073,607 (GRCm39) |
D84E |
probably benign |
Het |
| Gin1 |
A |
G |
1: 97,712,951 (GRCm39) |
|
probably null |
Het |
| Gli3 |
C |
T |
13: 15,900,377 (GRCm39) |
Q1255* |
probably null |
Het |
| Gm4847 |
T |
A |
1: 166,465,788 (GRCm39) |
H267L |
probably damaging |
Het |
| Gpr171 |
T |
C |
3: 59,005,341 (GRCm39) |
I145V |
probably benign |
Het |
| Gpr68 |
T |
A |
12: 100,844,662 (GRCm39) |
H294L |
possibly damaging |
Het |
| Gys2 |
T |
C |
6: 142,406,912 (GRCm39) |
E148G |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,098,940 (GRCm39) |
D1320G |
probably damaging |
Het |
| Ifnlr1 |
G |
T |
4: 135,413,834 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,692,976 (GRCm39) |
E392K |
probably damaging |
Het |
| Igsf9b |
T |
A |
9: 27,222,889 (GRCm39) |
S97T |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,570,687 (GRCm39) |
I210V |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 45,748,580 (GRCm39) |
G248S |
probably benign |
Het |
| Kif28 |
T |
C |
1: 179,533,319 (GRCm39) |
K541E |
possibly damaging |
Het |
| Lilrb4a |
A |
G |
10: 51,372,124 (GRCm39) |
Y205C |
probably damaging |
Het |
| Lima1 |
T |
A |
15: 99,717,817 (GRCm39) |
H63L |
probably benign |
Het |
| Lonrf3 |
A |
G |
X: 35,622,361 (GRCm39) |
I687V |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,449,941 (GRCm39) |
T2099A |
possibly damaging |
Het |
| Morn5 |
C |
T |
2: 35,942,987 (GRCm39) |
T29M |
probably damaging |
Het |
| Neurl1b |
G |
A |
17: 26,657,674 (GRCm39) |
R22H |
probably benign |
Het |
| Nr2e3 |
T |
C |
9: 59,850,720 (GRCm39) |
I380V |
probably damaging |
Het |
| Oas1c |
G |
A |
5: 120,946,800 (GRCm39) |
A10V |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,505 (GRCm39) |
E271G |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,624,605 (GRCm39) |
V196I |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,831,895 (GRCm39) |
T297A |
probably benign |
Het |
| Pdpk1 |
T |
C |
17: 24,329,878 (GRCm39) |
K53E |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,064,106 (GRCm39) |
R2056Q |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,472,494 (GRCm39) |
N1079K |
probably benign |
Het |
| Prr12 |
G |
C |
7: 44,698,121 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
A |
G |
4: 83,376,400 (GRCm39) |
S480P |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,270,722 (GRCm39) |
|
probably benign |
Het |
| Pvalb |
A |
C |
15: 78,086,784 (GRCm39) |
V44G |
probably damaging |
Het |
| Rab3c |
T |
G |
13: 110,220,669 (GRCm39) |
Q164P |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,647,284 (GRCm39) |
K703R |
possibly damaging |
Het |
| Setd7 |
T |
G |
3: 51,450,060 (GRCm39) |
H122P |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,903,808 (GRCm39) |
F19I |
probably benign |
Het |
| Slc6a14 |
A |
G |
X: 21,607,286 (GRCm39) |
D625G |
probably benign |
Het |
| Snx6 |
C |
T |
12: 54,830,259 (GRCm39) |
V67I |
possibly damaging |
Het |
| Syngr3 |
A |
G |
17: 24,906,696 (GRCm39) |
F40L |
possibly damaging |
Het |
| Syt8 |
G |
A |
7: 141,991,971 (GRCm39) |
G21R |
possibly damaging |
Het |
| Tagln |
A |
G |
9: 45,842,138 (GRCm39) |
F152L |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,937,442 (GRCm39) |
S1202N |
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,217,529 (GRCm39) |
K179E |
probably damaging |
Het |
| Tekt4 |
G |
T |
17: 25,692,785 (GRCm39) |
|
probably null |
Het |
| Tmprss5 |
G |
T |
9: 49,018,464 (GRCm39) |
R98L |
probably benign |
Het |
| Tns1 |
G |
T |
1: 73,955,635 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
C |
5: 120,674,292 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
T |
C |
12: 57,741,286 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,964,796 (GRCm39) |
N706S |
possibly damaging |
Het |
| Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,143,159 (GRCm39) |
S140T |
probably benign |
Het |
| Wdr19 |
A |
T |
5: 65,370,234 (GRCm39) |
I123F |
possibly damaging |
Het |
| Zer1 |
C |
T |
2: 30,000,230 (GRCm39) |
A317T |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,771,872 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,900,104 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zranb3 |
A |
T |
1: 127,945,293 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
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'- GTGTTTAAGACCACACCCCTG -3'
(R):5'- AAGTGACAGTCAGCTGCCAG -3'
Sequencing Primer
(F):5'- AAGACCACACCCCTGCTTTCTG -3'
(R):5'- TGCCAGCTCTAGCCCCTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation