Incidental Mutation 'R7161:Afdn'
ID 557608
Institutional Source Beutler Lab
Gene Symbol Afdn
Ensembl Gene ENSMUSG00000068036
Gene Name afadin, adherens junction formation factor
Synonyms Afadin, I-afadin, AF6, Mllt4, S-afadin, 5033403D15Rik
MMRRC Submission 045260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7161 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 13760539-13906150 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13888946 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1592 (M1592K)
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
SMART Domains Protein: ENSMUSP00000116711
Gene: ENSMUSG00000068036
AA Change: M139K

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 possibly damaging
Transcript: ENSMUST00000137708
AA Change: M1592K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: M1592K

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 possibly damaging
Transcript: ENSMUST00000137784
AA Change: M1599K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: M1599K

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 possibly damaging
Transcript: ENSMUST00000139666
AA Change: M1592K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: M1592K

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: ENSMUST00000150848
AA Change: M1577K

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: M1577K

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 possibly damaging
Transcript: ENSMUST00000170827
AA Change: M1577K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: M1577K

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
Meta Mutation Damage Score 0.5103 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,074,142 (GRCm38) Q443L probably benign Het
Acad12 A T 5: 121,607,373 (GRCm38) M285K probably damaging Het
Bpifb9b A T 2: 154,313,615 (GRCm38) T345S possibly damaging Het
Bub1b A G 2: 118,626,053 (GRCm38) E526G probably damaging Het
Car13 A G 3: 14,645,208 (GRCm38) D70G probably benign Het
Castor2 C A 5: 134,135,190 (GRCm38) T75N probably damaging Het
Ccdc127 A T 13: 74,352,877 (GRCm38) L4F probably damaging Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Ccr10 A G 11: 101,174,278 (GRCm38) I142T probably benign Het
Cep126 C T 9: 8,087,399 (GRCm38) V1005M probably benign Het
Chil6 A G 3: 106,394,412 (GRCm38) I124T probably benign Het
Coq8a A G 1: 180,170,341 (GRCm38) probably null Het
Ctf2 T A 7: 127,719,304 (GRCm38) K174N probably damaging Het
Dapk1 T C 13: 60,696,395 (GRCm38) V76A possibly damaging Het
Disp1 A G 1: 183,087,625 (GRCm38) M1077T possibly damaging Het
Dnaaf9 C A 2: 130,806,788 (GRCm38) R258L unknown Het
Dnah9 T A 11: 65,855,372 (GRCm38) K3972* probably null Het
Dnai4 G A 4: 103,096,616 (GRCm38) P129S probably benign Het
Dusp7 T A 9: 106,368,915 (GRCm38) S40T unknown Het
Emg1 T C 6: 124,705,749 (GRCm38) T88A probably benign Het
Fbxo5 A G 10: 5,802,043 (GRCm38) V190A possibly damaging Het
Fbxw20 T G 9: 109,225,980 (GRCm38) D167A probably damaging Het
Fes A T 7: 80,380,861 (GRCm38) V562E probably damaging Het
Foxj1 C G 11: 116,332,408 (GRCm38) G190R probably damaging Het
Gdf15 T G 8: 70,631,342 (GRCm38) S91R possibly damaging Het
Gm4846 C A 1: 166,487,010 (GRCm38) V355F probably damaging Het
Herc4 T A 10: 63,308,415 (GRCm38) Y776N probably benign Het
Hspg2 G A 4: 137,514,719 (GRCm38) R588H probably damaging Het
Igkv6-25 T A 6: 70,215,778 (GRCm38) Y56* probably null Het
Itpr1 C T 6: 108,386,640 (GRCm38) A741V probably damaging Het
Kbtbd8 T A 6: 95,126,696 (GRCm38) I519K probably benign Het
Kcnh5 T A 12: 74,897,709 (GRCm38) Q922L probably benign Het
Kiss1r T C 10: 79,919,489 (GRCm38) Y103H probably damaging Het
Knl1 A G 2: 119,070,785 (GRCm38) E989G possibly damaging Het
Lamc1 A T 1: 153,226,454 (GRCm38) L1466Q probably damaging Het
Lap3 C T 5: 45,498,467 (GRCm38) P138L probably benign Het
Lhx1 G A 11: 84,519,872 (GRCm38) P300S probably damaging Het
Mppe1 G A 18: 67,229,771 (GRCm38) A131V probably benign Het
Neb A T 2: 52,271,592 (GRCm38) Y2063N probably damaging Het
Nfe2l1 A G 11: 96,817,720 (GRCm38) F740L probably benign Het
Nop10 A G 2: 112,262,046 (GRCm38) N8S probably benign Het
Opalin T A 19: 41,069,935 (GRCm38) T20S possibly damaging Het
Or8h7 A C 2: 86,890,649 (GRCm38) H175Q probably benign Het
Pask C T 1: 93,310,905 (GRCm38) S1286N probably benign Het
Pcdhgc4 A T 18: 37,815,663 (GRCm38) E44V probably damaging Het
Pde1a A G 2: 79,865,214 (GRCm38) M463T probably benign Het
Pde6a A T 18: 61,281,525 (GRCm38) M714L probably benign Het
Pik3c2b A G 1: 133,106,112 (GRCm38) E1618G probably damaging Het
Pou2f3 T C 9: 43,139,363 (GRCm38) N234S probably damaging Het
Ptprm T A 17: 66,809,627 (GRCm38) T886S probably benign Het
Rab11fip3 C A 17: 26,069,090 (GRCm38) D30Y probably benign Het
Rassf10 A T 7: 112,954,500 (GRCm38) I103F probably damaging Het
Rfc4 A G 16: 23,115,433 (GRCm38) I206T probably benign Het
Rhcg A G 7: 79,617,441 (GRCm38) F29S probably damaging Het
Sec11c A G 18: 65,812,732 (GRCm38) I89V probably benign Het
Serac1 T C 17: 6,065,076 (GRCm38) D204G probably damaging Het
Serpinb3c T C 1: 107,273,162 (GRCm38) N175S probably null Het
Slc25a19 C T 11: 115,616,547 (GRCm38) E250K possibly damaging Het
Slc9a8 A T 2: 167,465,383 (GRCm38) Y329F possibly damaging Het
Smagp T C 15: 100,636,245 (GRCm38) probably benign Het
Spats1 T A 17: 45,449,169 (GRCm38) Q268H probably benign Het
Spef2 T C 15: 9,717,603 (GRCm38) T219A probably benign Het
Spink13 A G 18: 62,614,955 (GRCm38) M11T probably benign Het
Susd1 T C 4: 59,329,581 (GRCm38) D669G possibly damaging Het
Svep1 A G 4: 58,128,859 (GRCm38) Y613H possibly damaging Het
Tcp10b T C 17: 13,081,746 (GRCm38) *439Q probably null Het
Tmed2 T A 5: 124,546,920 (GRCm38) M133K possibly damaging Het
Trpv5 A T 6: 41,660,536 (GRCm38) Y370* probably null Het
Ttn A G 2: 76,812,244 (GRCm38) S13316P probably damaging Het
Uap1l1 A T 2: 25,363,280 (GRCm38) M381K probably damaging Het
Wdr26 A G 1: 181,203,130 (GRCm38) Y200H probably damaging Het
Zfhx4 A T 3: 5,244,083 (GRCm38) M790L possibly damaging Het
Zscan25 T C 5: 145,286,441 (GRCm38) L173P probably benign Het
Other mutations in Afdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Afdn APN 17 13,884,628 (GRCm38) missense probably damaging 1.00
IGL00784:Afdn APN 17 13,849,263 (GRCm38) splice site probably benign
IGL00971:Afdn APN 17 13,852,313 (GRCm38) splice site probably benign
IGL01403:Afdn APN 17 13,903,870 (GRCm38) missense probably damaging 1.00
IGL01944:Afdn APN 17 13,810,481 (GRCm38) missense probably damaging 1.00
IGL02474:Afdn APN 17 13,818,229 (GRCm38) missense probably damaging 1.00
IGL02615:Afdn APN 17 13,825,976 (GRCm38) missense probably benign 0.00
IGL02664:Afdn APN 17 13,852,466 (GRCm38) splice site probably benign
IGL03036:Afdn APN 17 13,888,088 (GRCm38) missense probably benign 0.12
jubilee UTSW 17 13,887,986 (GRCm38) missense probably damaging 1.00
IGL03134:Afdn UTSW 17 13,846,286 (GRCm38) missense probably benign 0.04
R0112:Afdn UTSW 17 13,884,637 (GRCm38) missense probably damaging 1.00
R0226:Afdn UTSW 17 13,899,146 (GRCm38) missense probably benign 0.00
R0305:Afdn UTSW 17 13,888,514 (GRCm38) splice site probably null
R0310:Afdn UTSW 17 13,885,508 (GRCm38) critical splice donor site probably null
R0711:Afdn UTSW 17 13,852,436 (GRCm38) missense probably damaging 1.00
R0828:Afdn UTSW 17 13,903,998 (GRCm38) missense probably damaging 1.00
R1268:Afdn UTSW 17 13,887,986 (GRCm38) missense probably damaging 1.00
R1317:Afdn UTSW 17 13,846,273 (GRCm38) missense probably benign 0.11
R1386:Afdn UTSW 17 13,846,536 (GRCm38) missense probably damaging 1.00
R1438:Afdn UTSW 17 13,855,390 (GRCm38) missense probably damaging 1.00
R1607:Afdn UTSW 17 13,810,501 (GRCm38) missense probably damaging 1.00
R1819:Afdn UTSW 17 13,850,848 (GRCm38) missense probably damaging 1.00
R1872:Afdn UTSW 17 13,881,316 (GRCm38) missense probably damaging 1.00
R1880:Afdn UTSW 17 13,852,353 (GRCm38) missense possibly damaging 0.84
R2049:Afdn UTSW 17 13,810,433 (GRCm38) missense probably damaging 0.96
R2140:Afdn UTSW 17 13,810,433 (GRCm38) missense probably damaging 0.96
R2142:Afdn UTSW 17 13,810,433 (GRCm38) missense probably damaging 0.96
R2162:Afdn UTSW 17 13,896,174 (GRCm38) missense probably benign 0.01
R2221:Afdn UTSW 17 13,883,737 (GRCm38) splice site probably benign
R2223:Afdn UTSW 17 13,883,737 (GRCm38) splice site probably benign
R2291:Afdn UTSW 17 13,888,891 (GRCm38) missense probably damaging 1.00
R2993:Afdn UTSW 17 13,891,000 (GRCm38) critical splice donor site probably null
R3402:Afdn UTSW 17 13,883,914 (GRCm38) missense probably damaging 1.00
R3403:Afdn UTSW 17 13,883,914 (GRCm38) missense probably damaging 1.00
R3690:Afdn UTSW 17 13,888,409 (GRCm38) missense probably damaging 1.00
R3691:Afdn UTSW 17 13,888,409 (GRCm38) missense probably damaging 1.00
R3764:Afdn UTSW 17 13,846,589 (GRCm38) missense probably benign 0.07
R3832:Afdn UTSW 17 13,896,174 (GRCm38) missense probably benign 0.01
R4002:Afdn UTSW 17 13,883,917 (GRCm38) missense probably damaging 1.00
R4440:Afdn UTSW 17 13,850,890 (GRCm38) missense probably damaging 1.00
R4621:Afdn UTSW 17 13,888,820 (GRCm38) missense probably damaging 1.00
R4935:Afdn UTSW 17 13,890,966 (GRCm38) missense probably benign 0.30
R5279:Afdn UTSW 17 13,888,952 (GRCm38) missense probably damaging 1.00
R5421:Afdn UTSW 17 13,832,406 (GRCm38) missense probably benign 0.25
R5689:Afdn UTSW 17 13,855,359 (GRCm38) missense probably damaging 1.00
R6332:Afdn UTSW 17 13,810,445 (GRCm38) missense possibly damaging 0.92
R6369:Afdn UTSW 17 13,835,343 (GRCm38) nonsense probably null
R6433:Afdn UTSW 17 13,881,299 (GRCm38) missense probably damaging 1.00
R6467:Afdn UTSW 17 13,804,053 (GRCm38) missense probably damaging 1.00
R6500:Afdn UTSW 17 13,822,372 (GRCm38) missense possibly damaging 0.67
R6564:Afdn UTSW 17 13,896,089 (GRCm38) missense probably benign
R6705:Afdn UTSW 17 13,888,021 (GRCm38) missense probably benign 0.01
R6733:Afdn UTSW 17 13,823,353 (GRCm38) missense probably benign 0.39
R6983:Afdn UTSW 17 13,881,321 (GRCm38) missense probably damaging 1.00
R7089:Afdn UTSW 17 13,890,812 (GRCm38) splice site probably null
R7175:Afdn UTSW 17 13,888,607 (GRCm38) missense probably damaging 1.00
R7492:Afdn UTSW 17 13,848,376 (GRCm38) critical splice donor site probably null
R7567:Afdn UTSW 17 13,888,808 (GRCm38) missense probably benign 0.19
R7581:Afdn UTSW 17 13,849,238 (GRCm38) missense probably damaging 1.00
R7694:Afdn UTSW 17 13,888,882 (GRCm38) missense probably damaging 0.99
R7722:Afdn UTSW 17 13,808,969 (GRCm38) missense probably benign 0.40
R7794:Afdn UTSW 17 13,882,433 (GRCm38) missense probably damaging 1.00
R8039:Afdn UTSW 17 13,899,141 (GRCm38) missense probably damaging 0.99
R8444:Afdn UTSW 17 13,883,800 (GRCm38) missense probably benign 0.31
R8694:Afdn UTSW 17 13,888,379 (GRCm38) missense probably benign
R8728:Afdn UTSW 17 13,898,945 (GRCm38) missense probably damaging 1.00
R8770:Afdn UTSW 17 13,883,937 (GRCm38) critical splice donor site probably null
R8887:Afdn UTSW 17 13,896,139 (GRCm38) nonsense probably null
R9101:Afdn UTSW 17 13,823,444 (GRCm38) missense probably damaging 0.99
R9169:Afdn UTSW 17 13,852,365 (GRCm38) missense probably benign 0.02
R9275:Afdn UTSW 17 13,804,008 (GRCm38) missense probably damaging 1.00
R9276:Afdn UTSW 17 13,804,008 (GRCm38) missense probably damaging 1.00
R9277:Afdn UTSW 17 13,804,008 (GRCm38) missense probably damaging 1.00
R9278:Afdn UTSW 17 13,804,008 (GRCm38) missense probably damaging 1.00
R9281:Afdn UTSW 17 13,804,008 (GRCm38) missense probably damaging 1.00
R9573:Afdn UTSW 17 13,829,967 (GRCm38) missense probably damaging 1.00
R9619:Afdn UTSW 17 13,881,304 (GRCm38) missense probably damaging 1.00
R9746:Afdn UTSW 17 13,846,520 (GRCm38) missense probably benign 0.00
R9797:Afdn UTSW 17 13,846,300 (GRCm38) missense probably benign
X0060:Afdn UTSW 17 13,818,170 (GRCm38) nonsense probably null
X0064:Afdn UTSW 17 13,888,027 (GRCm38) missense possibly damaging 0.60
Z1088:Afdn UTSW 17 13,883,780 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCCCTGGAAACGAGATG -3'
(R):5'- CAAGTTGTCAGCCAAGAGTGAG -3'

Sequencing Primer
(F):5'- TGCACATTGTGGACATGCTAAGC -3'
(R):5'- GCAAAAGAAACCAGGGGTCTTTAAAC -3'
Posted On 2019-06-26