Incidental Mutation 'R9281:Afdn'
| ID |
703662 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14024270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 59
(C59S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137708]
[ENSMUST00000137784]
[ENSMUST00000139347]
[ENSMUST00000139666]
[ENSMUST00000150848]
[ENSMUST00000156591]
[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 |
probably damaging
Transcript: ENSMUST00000137708
AA Change: C59S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: C59S
| 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: C59S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: C59S
| 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: ENSMUST00000139347
AA Change: C59S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115250
Gene: ENSMUSG00000068036
AA Change: C59S
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
146 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139666
AA Change: C59S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: C59S
| 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 damaging
Transcript: ENSMUST00000150848
AA Change: C59S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: C59S
| 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: ENSMUST00000156591
AA Change: C59S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122204
Gene: ENSMUSG00000068036
AA Change: C59S
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
39 |
134 |
4.09e-28 |
SMART |
|
coiled coil region
|
147 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170827
AA Change: C59S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: C59S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,184 (GRCm39) |
I102M |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,205,687 (GRCm39) |
V444I |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,149,318 (GRCm39) |
Y848N |
probably damaging |
Het |
| Arap2 |
C |
T |
5: 62,906,848 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
C |
T |
11: 43,116,458 (GRCm39) |
T935I |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,882,257 (GRCm39) |
L686P |
possibly damaging |
Het |
| Bmp5 |
T |
C |
9: 75,683,856 (GRCm39) |
V161A |
probably benign |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,607 (GRCm39) |
E196G |
probably benign |
Het |
| Cacng8 |
T |
A |
7: 3,460,608 (GRCm39) |
F130L |
probably damaging |
Het |
| Cap1 |
A |
G |
4: 122,766,226 (GRCm39) |
M4T |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,751,413 (GRCm39) |
K886E |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,881,703 (GRCm39) |
T1112P |
possibly damaging |
Het |
| Clcn4 |
A |
T |
7: 7,294,813 (GRCm39) |
M316K |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,732,920 (GRCm39) |
D1099E |
unknown |
Het |
| Csmd3 |
A |
C |
15: 47,460,272 (GRCm39) |
N2595K |
|
Het |
| Ctdspl2 |
A |
G |
2: 121,841,063 (GRCm39) |
H451R |
probably benign |
Het |
| Cybrd1 |
A |
T |
2: 70,968,735 (GRCm39) |
T203S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,078,240 (GRCm39) |
N312S |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,929,983 (GRCm39) |
S38T |
probably benign |
Het |
| Dync2i1 |
G |
A |
12: 116,211,677 (GRCm39) |
R277* |
probably null |
Het |
| Ercc8 |
G |
T |
13: 108,320,364 (GRCm39) |
A317S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,799,097 (GRCm39) |
T629A |
probably benign |
Het |
| Frmpd1 |
G |
T |
4: 45,284,127 (GRCm39) |
A983S |
probably benign |
Het |
| Gm14325 |
T |
A |
2: 177,473,597 (GRCm39) |
Y495F |
probably damaging |
Het |
| Gm5773 |
A |
T |
3: 93,680,891 (GRCm39) |
T188S |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,214,488 (GRCm39) |
N243K |
probably damaging |
Het |
| Inpp4a |
C |
G |
1: 37,410,850 (GRCm39) |
H339Q |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 117,995,728 (GRCm39) |
V1003A |
probably damaging |
Het |
| Lrrc25 |
T |
A |
8: 71,073,246 (GRCm39) |
M276K |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,994,425 (GRCm39) |
G406D |
probably damaging |
Het |
| Mfhas1 |
G |
T |
8: 36,057,951 (GRCm39) |
A809S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,378,294 (GRCm39) |
D376E |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,707,566 (GRCm39) |
H464Q |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,046,443 (GRCm39) |
C302* |
probably null |
Het |
| Myo6 |
T |
A |
9: 80,162,164 (GRCm39) |
Y300* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,493,482 (GRCm39) |
D31G |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,741,190 (GRCm39) |
Y270C |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,152,961 (GRCm39) |
S434P |
probably benign |
Het |
| Or13p3 |
A |
G |
4: 118,566,592 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,133 (GRCm39) |
M144L |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,813,375 (GRCm39) |
T165S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,313 (GRCm39) |
V1590A |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,495 (GRCm39) |
L180P |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,536,758 (GRCm39) |
D109N |
probably benign |
Het |
| Ptger3 |
A |
G |
3: 157,273,090 (GRCm39) |
M146V |
probably benign |
Het |
| Pts |
A |
G |
9: 50,433,853 (GRCm39) |
V96A |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,834 (GRCm39) |
E685G |
probably benign |
Het |
| Rab27a |
C |
T |
9: 72,992,278 (GRCm39) |
T102I |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,545 (GRCm39) |
L2253P |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,080,479 (GRCm39) |
A1022T |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,363,259 (GRCm39) |
N259K |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,472,056 (GRCm39) |
Y604* |
probably null |
Het |
| Slc12a6 |
A |
G |
2: 112,164,754 (GRCm39) |
N151S |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,019,051 (GRCm39) |
D596V |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,051 (GRCm39) |
V140A |
probably benign |
Het |
| Spta1 |
T |
G |
1: 174,047,444 (GRCm39) |
V1696G |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,927 (GRCm39) |
D179E |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,702,671 (GRCm39) |
D182G |
probably benign |
Het |
| Synm |
A |
T |
7: 67,386,048 (GRCm39) |
L538* |
probably null |
Het |
| Tigar |
A |
T |
6: 127,068,157 (GRCm39) |
L87H |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,962 (GRCm39) |
V110F |
possibly damaging |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,744 (GRCm39) |
L94* |
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,902 (GRCm39) |
H422R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,926 (GRCm39) |
V15914A |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,303,953 (GRCm39) |
C826F |
probably damaging |
Het |
| Wwc1 |
C |
G |
11: 35,780,211 (GRCm39) |
G248A |
probably benign |
Het |
| Zfp120 |
G |
A |
2: 149,959,615 (GRCm39) |
H258Y |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,607,731 (GRCm39) |
Y1681H |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,579,045 (GRCm39) |
L150P |
possibly damaging |
Het |
| Zscan4-ps1 |
G |
T |
7: 10,799,589 (GRCm39) |
F433L |
possibly 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 |
|
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 |
|
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'- GAATTCCACCGTGGGCTTTC -3'
(R):5'- CCTGTCAATCACTGTTGGGTG -3'
Sequencing Primer
(F):5'- ACCGTGGGCTTTCTCCATAAG -3'
(R):5'- TCAATCACTGTTGGGTGGAGGAAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation