Incidental Mutation 'R7543:Afap1l1'
ID 584051
Institutional Source Beutler Lab
Gene Symbol Afap1l1
Ensembl Gene ENSMUSG00000033032
Gene Name actin filament associated protein 1-like 1
Synonyms
MMRRC Submission 045615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7543 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61863333-61919733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61889972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 88 (D88G)
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: D88G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: D88G

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: D88G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,559,920 (GRCm39) S54T probably damaging Het
Acsl5 G A 19: 55,266,615 (GRCm39) V59I Het
Acss2 A T 2: 155,391,755 (GRCm39) I203F probably damaging Het
Add2 A G 6: 86,083,207 (GRCm39) N435S probably damaging Het
Ajm1 C A 2: 25,467,410 (GRCm39) A834S possibly damaging Het
Ank3 C T 10: 69,786,846 (GRCm39) T970M possibly damaging Het
Ap3b2 A T 7: 81,115,894 (GRCm39) probably null Het
Apc2 A G 10: 80,150,720 (GRCm39) K1925E possibly damaging Het
Aspscr1 A G 11: 120,600,249 (GRCm39) N130D unknown Het
B3glct A G 5: 149,677,604 (GRCm39) D411G probably damaging Het
Bard1 T C 1: 71,114,589 (GRCm39) K131E probably damaging Het
Bche T C 3: 73,609,066 (GRCm39) D120G probably damaging Het
Brms1l A T 12: 55,914,997 (GRCm39) D302V probably damaging Het
Ccdc191 T A 16: 43,718,572 (GRCm39) Y56* probably null Het
Cela3a T A 4: 137,129,883 (GRCm39) H246L probably damaging Het
Col11a2 A T 17: 34,269,430 (GRCm39) D440V unknown Het
Cplane1 T C 15: 8,254,876 (GRCm39) I21T unknown Het
Dag1 C T 9: 108,095,280 (GRCm39) V71I probably benign Het
Ddx23 A G 15: 98,556,139 (GRCm39) S60P unknown Het
Dync1h1 G T 12: 110,580,541 (GRCm39) R134L probably benign Het
Dync1i1 T C 6: 5,784,464 (GRCm39) S103P possibly damaging Het
Erap1 T A 13: 74,822,753 (GRCm39) D755E probably damaging Het
Exosc8 T C 3: 54,636,669 (GRCm39) T221A probably benign Het
Fbxo4 T C 15: 4,007,385 (GRCm39) D93G probably damaging Het
Fzd5 A G 1: 64,774,999 (GRCm39) V254A probably damaging Het
Gbp3 T C 3: 142,272,341 (GRCm39) V281A probably damaging Het
Gcc2 T A 10: 58,107,086 (GRCm39) I774K probably benign Het
Gpr132 A C 12: 112,815,822 (GRCm39) C335G probably benign Het
Gpr162 G T 6: 124,838,355 (GRCm39) Y98* probably null Het
H2-T24 T C 17: 36,325,743 (GRCm39) T283A possibly damaging Het
Hoxc6 A G 15: 102,918,186 (GRCm39) Y50C probably damaging Het
Il4i1 A G 7: 44,486,199 (GRCm39) N53S possibly damaging Het
Iqcf3 T C 9: 106,431,425 (GRCm39) K60R possibly damaging Het
Kif24 A T 4: 41,413,993 (GRCm39) Y316* probably null Het
Krt18 A G 15: 101,939,896 (GRCm39) K365E probably damaging Het
Lrguk T A 6: 34,025,870 (GRCm39) L222* probably null Het
Mbd1 T G 18: 74,407,520 (GRCm39) V210G probably damaging Het
Ms4a6b A G 19: 11,499,155 (GRCm39) I90V not run Het
Muc16 A G 9: 18,556,028 (GRCm39) S3422P unknown Het
Mynn G A 3: 30,661,188 (GRCm39) W90* probably null Het
Or5p5 T A 7: 107,414,308 (GRCm39) N172K probably damaging Het
Pdpr T A 8: 111,859,520 (GRCm39) H687Q probably damaging Het
Pkd1 A G 17: 24,814,227 (GRCm39) E4199G probably damaging Het
Plekhg5 A G 4: 152,192,491 (GRCm39) E517G probably damaging Het
Plxna1 T C 6: 89,299,837 (GRCm39) D1644G probably damaging Het
Pon1 C T 6: 5,168,400 (GRCm39) V336M possibly damaging Het
Pop1 T A 15: 34,530,593 (GRCm39) L1027Q probably damaging Het
Pramel1 T C 4: 143,124,993 (GRCm39) S306P probably damaging Het
Prpsap2 A T 11: 61,635,797 (GRCm39) F168I possibly damaging Het
Rabgap1 T A 2: 37,359,444 (GRCm39) D2E probably damaging Het
Rgmb A T 17: 16,027,777 (GRCm39) L314Q probably damaging Het
Ryr2 C T 13: 11,653,317 (GRCm39) probably null Het
Samd4b A T 7: 28,113,711 (GRCm39) S85T probably benign Het
Sfrp5 T C 19: 42,187,302 (GRCm39) D256G possibly damaging Het
Slc25a23 A G 17: 57,365,106 (GRCm39) probably null Het
Sox5 A G 6: 143,786,905 (GRCm39) I589T probably damaging Het
Sybu T A 15: 44,546,848 (GRCm39) probably null Het
Syne2 A G 12: 75,953,616 (GRCm39) E515G possibly damaging Het
Tbc1d17 G A 7: 44,495,503 (GRCm39) A107V probably benign Het
Tcstv2c A C 13: 120,616,290 (GRCm39) E43A probably damaging Het
Tex50 G T 1: 160,984,817 (GRCm39) T141K possibly damaging Het
Tmc7 A G 7: 118,144,979 (GRCm39) L527P probably benign Het
Tns4 T A 11: 98,963,079 (GRCm39) D547V probably benign Het
Topors A G 4: 40,268,312 (GRCm39) S65P probably damaging Het
Trdc T A 14: 54,381,692 (GRCm39) S126T Het
Ttc27 A T 17: 75,024,745 (GRCm39) probably benign Het
Wdfy3 A C 5: 102,083,925 (GRCm39) I787S probably benign Het
Zc3h11a T C 1: 133,554,768 (GRCm39) D404G possibly damaging Het
Zfp799 A G 17: 33,039,534 (GRCm39) I244T probably benign Het
Zfp93 A G 7: 23,974,533 (GRCm39) T173A probably benign Het
Zfp953 T A 13: 67,495,953 (GRCm39) L29F probably 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
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
Predicted Primers PCR Primer
(F):5'- GTGTGGACCACTGTAAGCATG -3'
(R):5'- AGGCCAACCTCCAGAAGATG -3'

Sequencing Primer
(F):5'- TGCCCAGTGATATGTCCACAAGG -3'
(R):5'- TCCAGAAGATGCCCAGGG -3'
Posted On 2019-10-17