Incidental Mutation 'R8041:Afap1l1'
ID 618555
Institutional Source Beutler Lab
Gene Symbol Afap1l1
Ensembl Gene ENSMUSG00000033032
Gene Name actin filament associated protein 1-like 1
Synonyms
MMRRC Submission 067478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R8041 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 61863333-61919733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61891754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 21 (L21Q)
Ref Sequence ENSEMBL: ENSMUSP00000113286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]
AlphaFold Q8BZI0
Predicted Effect probably damaging
Transcript: ENSMUST00000120472
AA Change: L21Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: L21Q

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 probably damaging
Transcript: ENSMUST00000154876
AA Change: L21Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 G A 4: 126,335,729 (GRCm39) R661C probably damaging Het
Albfm1 T A 5: 90,740,864 (GRCm39) probably null Het
Aoc3 T C 11: 101,223,132 (GRCm39) V456A probably benign Het
Aopep G C 13: 63,180,921 (GRCm39) W294C probably damaging Het
Cacna1b A T 2: 24,547,311 (GRCm39) F1223L probably damaging Het
Ccdc40 T C 11: 119,122,507 (GRCm39) F33S possibly damaging Het
Ccnjl T C 11: 43,470,538 (GRCm39) V102A probably damaging Het
Cd48 T C 1: 171,526,958 (GRCm39) V128A probably damaging Het
Cmah A G 13: 24,652,601 (GRCm39) D577G probably benign Het
Cnnm4 A G 1: 36,511,174 (GRCm39) K134R probably benign Het
Cntnap5a T A 1: 116,187,209 (GRCm39) Y594N probably damaging Het
Col14a1 A G 15: 55,318,626 (GRCm39) E1375G unknown Het
Comtd1 T A 14: 21,897,985 (GRCm39) E153V probably benign Het
Dchs1 T A 7: 105,404,395 (GRCm39) T2716S probably benign Het
Ddx4 A T 13: 112,762,928 (GRCm39) S143T probably benign Het
Dlg1 A G 16: 31,656,885 (GRCm39) D593G possibly damaging Het
Dok6 A G 18: 89,578,213 (GRCm39) I68T possibly damaging Het
Dpysl5 A G 5: 30,953,658 (GRCm39) I563V probably benign Het
Eapp A G 12: 54,739,650 (GRCm39) S56P probably damaging Het
Efcab3 T G 11: 104,810,305 (GRCm39) D3147E unknown Het
Fgd5 A T 6: 92,038,837 (GRCm39) D1157V probably damaging Het
Fmn1 T A 2: 113,194,939 (GRCm39) L213Q unknown Het
Foxo1 T A 3: 52,253,044 (GRCm39) Y402* probably null Het
Fyb2 C A 4: 104,857,681 (GRCm39) F619L possibly damaging Het
Gtf2i A T 5: 134,322,599 (GRCm39) probably null Het
Hrh1 G A 6: 114,456,878 (GRCm39) R53H not run Het
Hydin A T 8: 111,301,626 (GRCm39) M3786L probably benign Het
Ifi207 T C 1: 173,555,268 (GRCm39) R805G possibly damaging Het
Igfn1 C A 1: 135,895,797 (GRCm39) G1590* probably null Het
Jph3 A C 8: 122,516,201 (GRCm39) I740L probably benign Het
Kbtbd7 T A 14: 79,666,144 (GRCm39) F659I probably benign Het
Kcns2 A T 15: 34,839,291 (GRCm39) Q218L probably benign Het
Kcnt2 A G 1: 140,537,398 (GRCm39) N1119S probably benign Het
Krit1 A T 5: 3,857,309 (GRCm39) H38L probably benign Het
Krt20 T A 11: 99,328,663 (GRCm39) R87S probably damaging Het
Ly6g5c A G 17: 35,330,808 (GRCm39) E110G probably damaging Het
Mamdc4 A G 2: 25,454,707 (GRCm39) F1035S probably damaging Het
Mmp13 A T 9: 7,280,865 (GRCm39) D416V probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nrap A T 19: 56,352,768 (GRCm39) L566* probably null Het
Or12d17 T C 17: 37,777,540 (GRCm39) F148L probably benign Het
Or4b12 A T 2: 90,096,488 (GRCm39) C95* probably null Het
Or51ai2 T C 7: 103,586,788 (GRCm39) L67P probably damaging Het
Or5p69 T C 7: 107,966,741 (GRCm39) F15L probably damaging Het
Pcdhb19 T C 18: 37,630,367 (GRCm39) L54P possibly damaging Het
Pitpnm2 A G 5: 124,259,519 (GRCm39) F1272S probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Reep4 T C 14: 70,785,627 (GRCm39) Y186H probably benign Het
Rpgrip1 A G 14: 52,356,702 (GRCm39) T89A possibly damaging Het
Shc1 T C 3: 89,330,260 (GRCm39) S175P probably damaging Het
Sipa1l3 A G 7: 29,063,645 (GRCm39) S1156P probably damaging Het
Slc1a3 G A 15: 8,665,683 (GRCm39) P522L probably benign Het
Slc6a17 T A 3: 107,381,744 (GRCm39) T446S probably damaging Het
Tas1r2 A T 4: 139,387,290 (GRCm39) N250Y possibly damaging Het
Tex15 G T 8: 34,065,874 (GRCm39) R1768L probably damaging Het
Ttll9 G C 2: 152,844,956 (GRCm39) Q441H possibly damaging Het
Unc5c T A 3: 141,171,545 (GRCm39) V24E possibly damaging Het
Unc79 A G 12: 103,054,726 (GRCm39) E888G probably benign Het
Vmn2r19 T C 6: 123,312,750 (GRCm39) S607P possibly damaging Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y probably benign Het
Wdfy4 A G 14: 32,875,965 (GRCm39) probably null Het
Zbtb49 T C 5: 38,358,198 (GRCm39) D685G 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
IGL03122:Afap1l1 APN 18 61,866,902 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTGTGCTATCCTGAGGCTAAC -3'
(R):5'- AGGAAAGCCACCTGGTTTTGG -3'

Sequencing Primer
(F):5'- GCTAACCTGAGGCTTACGCATC -3'
(R):5'- TTTTGGTGACCAGCCAGC -3'
Posted On 2020-01-23