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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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