Incidental Mutation 'R0008:Afap1l1'
ID 7942
Institutional Source Beutler Lab
Gene Symbol Afap1l1
Ensembl Gene ENSMUSG00000033032
Gene Name actin filament associated protein 1-like 1
Synonyms
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 61863333-61919733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61889976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 87 (S87P)
Ref Sequence ENSEMBL: ENSMUSP00000121278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]
AlphaFold Q8BZI0
Predicted Effect probably benign
Transcript: ENSMUST00000120472
AA Change: S87P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: S87P

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
AA Change: S87P

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V 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
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 2012-11-20