Incidental Mutation 'IGL03122:Afap1l1'
ID 410012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afap1l1
Ensembl Gene ENSMUSG00000033032
Gene Name actin filament associated protein 1-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03122
Quality Score
Status
Chromosome 18
Chromosomal Location 61863333-61919733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61866902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 719 (D719G)
Ref Sequence ENSEMBL: ENSMUSP00000113286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]
AlphaFold Q8BZI0
Predicted Effect probably benign
Transcript: ENSMUST00000120472
AA Change: D719G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: D719G

DomainStartEndE-ValueType
low complexity region 114 123 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
PH 221 318 4.13e-6 SMART
PH 419 514 9.41e-10 SMART
coiled coil region 611 701 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147278
Predicted Effect probably benign
Transcript: ENSMUST00000154876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184678
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 G A 16: 56,590,725 (GRCm39) probably benign Het
Amph C T 13: 19,287,113 (GRCm39) T274M probably damaging Het
Atp2c2 T A 8: 120,469,414 (GRCm39) D396E possibly damaging Het
Atpaf1 T C 4: 115,648,475 (GRCm39) I164T probably damaging Het
Avpr1b C A 1: 131,528,257 (GRCm39) P260Q probably damaging Het
Cacna1a T C 8: 85,189,305 (GRCm39) probably benign Het
Cald1 A G 6: 34,741,963 (GRCm39) I449V probably damaging Het
Ccdc24 A G 4: 117,728,942 (GRCm39) probably null Het
Cdcp3 A G 7: 130,798,243 (GRCm39) Q84R possibly damaging Het
Cenpk C A 13: 104,378,885 (GRCm39) Q134K probably damaging Het
Clasp1 A G 1: 118,438,007 (GRCm39) N373D probably damaging Het
Col7a1 T A 9: 108,790,751 (GRCm39) S1042T unknown Het
Cry2 G A 2: 92,243,640 (GRCm39) R439C probably damaging Het
Dip2a G T 10: 76,110,880 (GRCm39) D1138E probably benign Het
Dlgap3 T C 4: 127,089,018 (GRCm39) S205P possibly damaging Het
Echdc2 T A 4: 108,022,777 (GRCm39) S18T probably benign Het
Efcab2 T A 1: 178,265,042 (GRCm39) V36E probably damaging Het
Galk1 A T 11: 115,901,065 (GRCm39) probably null Het
Hoxc11 A T 15: 102,863,390 (GRCm39) N144Y probably damaging Het
Ift140 T A 17: 25,305,884 (GRCm39) C824S probably damaging Het
Inf2 A G 12: 112,570,663 (GRCm39) S401G probably benign Het
Kcnn1 T G 8: 71,307,724 (GRCm39) D106A probably damaging Het
Lama4 A G 10: 38,943,959 (GRCm39) N754S probably benign Het
Marchf6 A G 15: 31,478,439 (GRCm39) probably null Het
Nlrp1b A C 11: 71,072,659 (GRCm39) C395G probably benign Het
Or2n1d T C 17: 38,646,192 (GRCm39) V48A probably benign Het
Or4k2 A T 14: 50,424,461 (GRCm39) M71K probably damaging Het
Or5ac15 T C 16: 58,939,801 (GRCm39) M211V probably benign Het
Or9q1 A G 19: 13,805,014 (GRCm39) S249P possibly damaging Het
Scel A G 14: 103,836,842 (GRCm39) R477G possibly damaging Het
Sdk2 A G 11: 113,732,894 (GRCm39) S984P probably damaging Het
Slc4a7 C T 14: 14,782,040 (GRCm38) probably benign Het
Tas2r103 A G 6: 133,013,872 (GRCm39) S65P probably damaging Het
Tnip2 T C 5: 34,661,095 (GRCm39) E119G possibly damaging Het
Zgrf1 T A 3: 127,381,782 (GRCm39) L310M possibly damaging Het
Other mutations in Afap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Afap1l1 APN 18 61,869,925 (GRCm39) missense probably benign 0.04
IGL01643:Afap1l1 APN 18 61,884,897 (GRCm39) missense probably damaging 1.00
IGL01754:Afap1l1 APN 18 61,870,565 (GRCm39) critical splice donor site probably null
IGL01945:Afap1l1 APN 18 61,889,934 (GRCm39) missense probably benign 0.00
IGL02025:Afap1l1 APN 18 61,866,770 (GRCm39) splice site probably benign
IGL02413:Afap1l1 APN 18 61,866,860 (GRCm39) missense probably benign 0.00
IGL02418:Afap1l1 APN 18 61,885,648 (GRCm39) missense probably damaging 1.00
IGL02493:Afap1l1 APN 18 61,870,594 (GRCm39) missense possibly damaging 0.83
IGL02888:Afap1l1 APN 18 61,881,879 (GRCm39) missense probably damaging 1.00
IGL03010:Afap1l1 APN 18 61,876,390 (GRCm39) missense probably benign 0.01
IGL03145:Afap1l1 APN 18 61,874,880 (GRCm39) missense possibly damaging 0.93
IGL03052:Afap1l1 UTSW 18 61,881,894 (GRCm39) missense probably benign 0.00
R0008:Afap1l1 UTSW 18 61,889,976 (GRCm39) missense probably benign 0.11
R0008:Afap1l1 UTSW 18 61,889,976 (GRCm39) missense probably benign 0.11
R0217:Afap1l1 UTSW 18 61,879,940 (GRCm39) missense probably damaging 1.00
R0421:Afap1l1 UTSW 18 61,884,945 (GRCm39) missense probably damaging 1.00
R0626:Afap1l1 UTSW 18 61,872,291 (GRCm39) missense probably benign 0.07
R0963:Afap1l1 UTSW 18 61,870,001 (GRCm39) missense probably damaging 1.00
R1403:Afap1l1 UTSW 18 61,874,909 (GRCm39) missense probably damaging 1.00
R1403:Afap1l1 UTSW 18 61,874,909 (GRCm39) missense probably damaging 1.00
R1566:Afap1l1 UTSW 18 61,888,714 (GRCm39) missense probably benign
R1572:Afap1l1 UTSW 18 61,870,570 (GRCm39) missense probably damaging 1.00
R1854:Afap1l1 UTSW 18 61,876,365 (GRCm39) missense probably benign
R1992:Afap1l1 UTSW 18 61,874,842 (GRCm39) nonsense probably null
R2063:Afap1l1 UTSW 18 61,872,193 (GRCm39) critical splice donor site probably null
R2064:Afap1l1 UTSW 18 61,872,193 (GRCm39) critical splice donor site probably null
R2065:Afap1l1 UTSW 18 61,872,193 (GRCm39) critical splice donor site probably null
R2066:Afap1l1 UTSW 18 61,872,193 (GRCm39) critical splice donor site probably null
R4120:Afap1l1 UTSW 18 61,872,243 (GRCm39) missense probably damaging 1.00
R4904:Afap1l1 UTSW 18 61,871,786 (GRCm39) missense probably benign 0.00
R4997:Afap1l1 UTSW 18 61,884,879 (GRCm39) missense probably benign
R5379:Afap1l1 UTSW 18 61,891,721 (GRCm39) missense probably damaging 1.00
R5947:Afap1l1 UTSW 18 61,876,771 (GRCm39) missense probably damaging 0.98
R6774:Afap1l1 UTSW 18 61,888,732 (GRCm39) missense probably benign 0.00
R6814:Afap1l1 UTSW 18 61,866,812 (GRCm39) missense probably benign 0.45
R7085:Afap1l1 UTSW 18 61,881,885 (GRCm39) missense possibly damaging 0.91
R7325:Afap1l1 UTSW 18 61,869,917 (GRCm39) missense probably benign 0.44
R7543:Afap1l1 UTSW 18 61,889,972 (GRCm39) missense probably benign 0.01
R7877:Afap1l1 UTSW 18 61,879,853 (GRCm39) missense probably damaging 1.00
R8041:Afap1l1 UTSW 18 61,891,754 (GRCm39) missense probably damaging 1.00
R8253:Afap1l1 UTSW 18 61,874,702 (GRCm39) missense probably benign 0.43
R8913:Afap1l1 UTSW 18 61,889,910 (GRCm39) critical splice donor site probably null
R9443:Afap1l1 UTSW 18 61,879,859 (GRCm39) missense probably damaging 1.00
R9521:Afap1l1 UTSW 18 61,879,863 (GRCm39) missense probably benign
R9633:Afap1l1 UTSW 18 61,890,795 (GRCm39) missense possibly damaging 0.62
R9652:Afap1l1 UTSW 18 61,876,432 (GRCm39) missense probably damaging 1.00
R9792:Afap1l1 UTSW 18 61,874,822 (GRCm39) missense possibly damaging 0.94
R9793:Afap1l1 UTSW 18 61,874,822 (GRCm39) missense possibly damaging 0.94
R9795:Afap1l1 UTSW 18 61,874,822 (GRCm39) missense possibly damaging 0.94
Z1177:Afap1l1 UTSW 18 61,885,579 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02