Incidental Mutation 'IGL01403:Afdn'
ID |
79720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Afdn
|
Ensembl Gene |
ENSMUSG00000068036 |
Gene Name |
afadin, adherens junction formation factor |
Synonyms |
Mllt4, AF6, S-afadin, Afadin, I-afadin, 5033403D15Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01403
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
13980735-14126059 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14124132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1761
(P1761S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137784]
[ENSMUST00000139666]
[ENSMUST00000170827]
[ENSMUST00000150848]
|
AlphaFold |
Q9QZQ1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124922
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133422
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137531
AA Change: P335S
|
SMART Domains |
Protein: ENSMUSP00000116711 Gene: ENSMUSG00000068036 AA Change: P335S
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 benign
Transcript: ENSMUST00000137784
AA Change: P1783S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000119153 Gene: ENSMUSG00000068036 AA Change: P1783S
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 benign
Transcript: ENSMUST00000139666
AA Change: P1776S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000118318 Gene: ENSMUSG00000068036 AA Change: P1776S
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 benign
Transcript: ENSMUST00000170827
AA Change: P1761S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000128891 Gene: ENSMUSG00000068036 AA Change: P1761S
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: P1761S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122447 Gene: ENSMUSG00000068036 AA Change: P1761S
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 |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,836,602 (GRCm39) |
L1103Q |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,521,339 (GRCm39) |
Q605L |
probably benign |
Het |
Adk |
A |
G |
14: 21,284,983 (GRCm39) |
K102R |
probably damaging |
Het |
Ascc1 |
A |
G |
10: 59,848,280 (GRCm39) |
|
probably benign |
Het |
Aspdh |
A |
G |
7: 44,115,983 (GRCm39) |
|
probably null |
Het |
Bbx |
T |
C |
16: 50,022,876 (GRCm39) |
I753V |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 58,024,668 (GRCm39) |
Y186C |
probably damaging |
Het |
Ccdc78 |
T |
A |
17: 26,007,218 (GRCm39) |
|
probably null |
Het |
Ckmt1 |
T |
C |
2: 121,193,447 (GRCm39) |
|
probably benign |
Het |
Csf1r |
A |
G |
18: 61,247,897 (GRCm39) |
T322A |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,155,460 (GRCm39) |
|
probably benign |
Het |
Dr1 |
A |
G |
5: 108,417,576 (GRCm39) |
N41D |
possibly damaging |
Het |
Ehmt1 |
G |
A |
2: 24,729,638 (GRCm39) |
T633I |
possibly damaging |
Het |
Fgf7 |
T |
A |
2: 125,877,860 (GRCm39) |
Y76N |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,468,848 (GRCm39) |
W5038R |
probably damaging |
Het |
Ighv14-1 |
A |
G |
12: 113,895,862 (GRCm39) |
V21A |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,420 (GRCm39) |
I75F |
probably damaging |
Het |
Inhbc |
T |
A |
10: 127,205,968 (GRCm39) |
I100F |
probably damaging |
Het |
Irs3 |
A |
G |
5: 137,643,581 (GRCm39) |
F68L |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,337,569 (GRCm39) |
C2460S |
probably damaging |
Het |
Krt34 |
A |
G |
11: 99,929,116 (GRCm39) |
C365R |
possibly damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,497 (GRCm39) |
N82S |
probably damaging |
Het |
Mrpl58 |
A |
T |
11: 115,297,404 (GRCm39) |
I72F |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,778,846 (GRCm39) |
R1534H |
probably damaging |
Het |
Npat |
T |
A |
9: 53,466,429 (GRCm39) |
F239L |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,042,722 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
C |
14: 65,860,635 (GRCm39) |
V427A |
probably benign |
Het |
Or52b1 |
G |
A |
7: 104,978,605 (GRCm39) |
R265C |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,566,828 (GRCm39) |
T75A |
possibly damaging |
Het |
Pde4a |
A |
T |
9: 21,116,412 (GRCm39) |
I467F |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,347,229 (GRCm39) |
C198* |
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,254,632 (GRCm39) |
V1312A |
probably damaging |
Het |
Pola2 |
T |
C |
19: 6,009,121 (GRCm39) |
H79R |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,059,515 (GRCm39) |
|
probably benign |
Het |
Pramel15 |
A |
T |
4: 144,103,703 (GRCm39) |
M141K |
probably benign |
Het |
Psen2 |
A |
T |
1: 180,062,548 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,334,126 (GRCm39) |
K3112E |
probably damaging |
Het |
Slc6a4 |
G |
T |
11: 76,922,498 (GRCm39) |
V630L |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,757,355 (GRCm39) |
|
probably benign |
Het |
Tmc8 |
A |
G |
11: 117,681,900 (GRCm39) |
T510A |
possibly damaging |
Het |
Usp18 |
T |
A |
6: 121,245,627 (GRCm39) |
H334Q |
possibly damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,229 (GRCm39) |
Y117H |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,709,625 (GRCm39) |
D1857E |
probably benign |
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 |
|
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 |
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 |
|
Posted On |
2013-11-05 |