Incidental Mutation 'R1386:Afdn'
ID 162385
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 039448-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1386 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 13980735-14126059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14066798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 630 (V630A)
Ref Sequence ENSEMBL: ENSMUSP00000122447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137708] [ENSMUST00000137784] [ENSMUST00000139666] [ENSMUST00000150848] [ENSMUST00000170827]
AlphaFold Q9QZQ1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137503
Predicted Effect probably benign
Transcript: ENSMUST00000137708
AA Change: V645A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: V645A

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 1616 1660 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137784
AA Change: V645A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: V645A

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 damaging
Transcript: ENSMUST00000139666
AA Change: V645A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: V645A

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 damaging
Transcript: ENSMUST00000150848
AA Change: V630A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: V630A

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 benign
Transcript: ENSMUST00000170827
AA Change: V630A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: V630A

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
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 87.0%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,135,081 (GRCm39) I235V probably benign Het
Acsm4 T C 7: 119,297,801 (GRCm39) I146T probably benign Het
Adgrv1 T C 13: 81,676,984 (GRCm39) N1949S probably benign Het
Amfr A G 8: 94,712,027 (GRCm39) V301A possibly damaging Het
Anapc16 T C 10: 59,832,279 (GRCm39) M45V probably benign Het
Ankrd12 T C 17: 66,290,375 (GRCm39) E1686G possibly damaging Het
Ap2m1 T G 16: 20,359,979 (GRCm39) H193Q probably damaging Het
Aplnr T C 2: 84,967,805 (GRCm39) W277R possibly damaging Het
Aspm C T 1: 139,406,710 (GRCm39) H1866Y possibly damaging Het
Aspm A G 1: 139,385,361 (GRCm39) E335G probably benign Het
Atp8b4 T A 2: 126,220,664 (GRCm39) D578V probably benign Het
Ccr1 T A 9: 123,763,999 (GRCm39) E177V probably benign Het
Cecr2 A G 6: 120,739,092 (GRCm39) E1245G probably damaging Het
Cep162 A T 9: 87,103,255 (GRCm39) C638S probably benign Het
Ces1b A T 8: 93,794,705 (GRCm39) I298N probably benign Het
Cfap47 C T X: 78,553,507 (GRCm39) V323I possibly damaging Het
Chdh T A 14: 29,753,391 (GRCm39) L100Q probably damaging Het
Chrnd T C 1: 87,120,312 (GRCm39) I156T probably damaging Het
Clpx G A 9: 65,234,170 (GRCm39) R605Q probably null Het
Cnga1 T A 5: 72,769,526 (GRCm39) K135* probably null Het
Col6a4 A T 9: 105,940,144 (GRCm39) V1262E probably benign Het
Cracr2b T C 7: 141,043,481 (GRCm39) L53P probably damaging Het
Crhr1 T C 11: 104,065,220 (GRCm39) S372P possibly damaging Het
Cyp11b2 T A 15: 74,723,624 (GRCm39) probably null Het
Cyp21a1 T A 17: 35,021,184 (GRCm39) D373V probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ddah1 A T 3: 145,594,966 (GRCm39) Y242F probably benign Het
Dlgap3 A G 4: 127,088,719 (GRCm39) D105G possibly damaging Het
Dtl A G 1: 191,301,829 (GRCm39) V76A probably damaging Het
Dzank1 A G 2: 144,333,751 (GRCm39) S361P probably benign Het
Ehd3 T A 17: 74,127,538 (GRCm39) I157N probably damaging Het
Elk4 T C 1: 131,945,568 (GRCm39) F149L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fam83a A G 15: 57,849,899 (GRCm39) R148G probably damaging Het
Farp2 C A 1: 93,547,873 (GRCm39) probably null Het
Fbxw25 T A 9: 109,483,709 (GRCm39) I168F possibly damaging Het
Fermt1 T C 2: 132,757,978 (GRCm39) D479G probably damaging Het
Fgf17 C A 14: 70,874,210 (GRCm39) R193L probably damaging Het
Foxred2 T G 15: 77,832,721 (GRCm39) probably null Het
Gad1 T C 2: 70,404,467 (GRCm39) V119A possibly damaging Het
Gas2l3 A G 10: 89,250,215 (GRCm39) V301A possibly damaging Het
Gimap8 G A 6: 48,633,587 (GRCm39) V469I probably benign Het
Gja1 A T 10: 56,264,065 (GRCm39) E141D probably benign Het
Glod4 C T 11: 76,112,829 (GRCm39) W268* probably null Het
Guf1 C T 5: 69,720,505 (GRCm39) H309Y probably benign Het
Hax1 A G 3: 89,903,156 (GRCm39) V215A probably damaging Het
Heatr9 T C 11: 83,409,651 (GRCm39) D107G probably benign Het
Hephl1 T A 9: 14,988,050 (GRCm39) Y686F probably benign Het
Hk3 T C 13: 55,154,843 (GRCm39) probably null Het
Ikbkb G T 8: 23,155,633 (GRCm39) Q620K possibly damaging Het
Il18rap C T 1: 40,570,682 (GRCm39) A208V probably benign Het
Kif26b T C 1: 178,743,209 (GRCm39) S1102P probably benign Het
Kif5b A T 18: 6,226,383 (GRCm39) D147E probably damaging Het
Klhl3 T C 13: 58,178,247 (GRCm39) T348A probably damaging Het
Krt10 T C 11: 99,276,746 (GRCm39) probably benign Het
Lama3 A T 18: 12,610,427 (GRCm39) H1124L probably benign Het
Lin7a A T 10: 107,247,983 (GRCm39) Q96L unknown Het
Ly6c2 T G 15: 74,982,438 (GRCm39) I37L probably benign Het
Mov10l1 A G 15: 88,895,589 (GRCm39) Y585C possibly damaging Het
Msr1 G A 8: 40,042,334 (GRCm39) Q414* probably null Het
Myh13 T C 11: 67,261,776 (GRCm39) C1900R possibly damaging Het
Obscn T A 11: 59,024,679 (GRCm39) N454Y probably damaging Het
Olfml2b T G 1: 170,508,731 (GRCm39) Y530D probably damaging Het
Or1ad1 T C 11: 50,876,194 (GRCm39) F222S probably damaging Het
Or4c11 T A 2: 88,695,697 (GRCm39) F249L probably benign Het
Or52s1b T A 7: 102,822,574 (GRCm39) H90L probably benign Het
Or5b24 A T 19: 12,912,503 (GRCm39) T134S probably benign Het
Or7e174 T A 9: 20,012,878 (GRCm39) N274K probably benign Het
Or8j3b A G 2: 86,205,265 (GRCm39) F164L probably damaging Het
Pde10a T G 17: 9,172,574 (GRCm39) V648G probably damaging Het
Pde7b T A 10: 20,294,547 (GRCm39) H258L probably damaging Het
Pik3cb A G 9: 98,946,080 (GRCm39) V582A possibly damaging Het
Plxnb1 T C 9: 108,930,091 (GRCm39) S316P probably benign Het
Pmpca C T 2: 26,282,530 (GRCm39) T246I probably damaging Het
Reep3 A T 10: 66,898,788 (GRCm39) V32D possibly damaging Het
Rfx4 A G 10: 84,699,149 (GRCm39) M252V probably damaging Het
Rnf168 C A 16: 32,117,781 (GRCm39) D447E probably damaging Het
Rnf31 T C 14: 55,834,221 (GRCm39) V518A probably damaging Het
Rnpc3 A T 3: 113,407,433 (GRCm39) L340* probably null Het
Scn2a A G 2: 65,519,085 (GRCm39) E437G probably damaging Het
Scnn1b C A 7: 121,501,711 (GRCm39) N175K possibly damaging Het
Slc39a11 T A 11: 113,138,550 (GRCm39) I344F probably benign Het
Slc9a2 T A 1: 40,758,178 (GRCm39) L239Q probably damaging Het
Smg5 T C 3: 88,262,978 (GRCm39) F794L probably damaging Het
Smim13 C T 13: 41,426,168 (GRCm39) S68L possibly damaging Het
Sos2 A T 12: 69,661,432 (GRCm39) Y680N probably damaging Het
Spag6 T A 2: 18,739,057 (GRCm39) M329K possibly damaging Het
Spire2 G A 8: 124,088,105 (GRCm39) probably null Het
Tdrd9 T A 12: 112,011,238 (GRCm39) V1149D probably benign Het
Tns3 T A 11: 8,468,261 (GRCm39) Y321F probably benign Het
Top3b T C 16: 16,698,493 (GRCm39) V112A probably benign Het
Trafd1 G A 5: 121,517,715 (GRCm39) T26I probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Vmn2r78 T C 7: 86,564,615 (GRCm39) L20S unknown Het
Vmn2r82 A T 10: 79,214,545 (GRCm39) D176V probably damaging Het
Vps13b T C 15: 35,923,458 (GRCm39) F3778L probably damaging Het
Vwa3b T C 1: 37,090,962 (GRCm39) probably null Het
Vwc2 C T 11: 11,104,262 (GRCm39) P265S probably damaging Het
Zbtb9 T A 17: 27,193,612 (GRCm39) I339N probably damaging Het
Zfp335 T C 2: 164,740,161 (GRCm39) T764A probably benign Het
Zfp366 T A 13: 99,383,063 (GRCm39) V742D probably damaging Het
Zfp709 A T 8: 72,644,506 (GRCm39) Y645F probably damaging Het
Zmym2 T A 14: 57,150,548 (GRCm39) C424S probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTGATACTGCCTGCCAGCATTG -3'
(R):5'- GCTGCACACACCAGAATGCAGATG -3'

Sequencing Primer
(F):5'- TCAGGGAAAGCTGTAAGTGATTTTAG -3'
(R):5'- CTTGTCACCAGATCAGAAGTGTC -3'
Posted On 2014-03-17