Incidental Mutation 'R0711:Afdn'
ID 62766
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 038894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0711 (G1)
Quality Score 88
Status Validated
Chromosome 17
Chromosomal Location 13980735-14126059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14072698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 874 (P874S)
Ref Sequence ENSEMBL: ENSMUSP00000122447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000137708] [ENSMUST00000137784] [ENSMUST00000139666] [ENSMUST00000170827] [ENSMUST00000150848]
AlphaFold Q9QZQ1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137503
Predicted Effect probably damaging
Transcript: ENSMUST00000137708
AA Change: P889S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114485
Gene: ENSMUSG00000068036
AA Change: P889S

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: P896S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119153
Gene: ENSMUSG00000068036
AA Change: P896S

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: P889S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118318
Gene: ENSMUSG00000068036
AA Change: P889S

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 noncoding transcript
Transcript: ENSMUST00000141640
Predicted Effect probably damaging
Transcript: ENSMUST00000170827
AA Change: P874S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128891
Gene: ENSMUSG00000068036
AA Change: P874S

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: P874S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122447
Gene: ENSMUSG00000068036
AA Change: P874S

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 0.1240 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGATTTGAACCTCCAGCTTCACAC -3'
(R):5'- GGTACTCAGGCATGGTGGTATGAAC -3'

Sequencing Primer
(F):5'- CAGCTTCACACATGATACTGAGTG -3'
(R):5'- ttgccaagaaacaatgccc -3'
Posted On 2013-07-30