Incidental Mutation 'R8253:Afap1l1'
ID640155
Institutional Source Beutler Lab
Gene Symbol Afap1l1
Ensembl Gene ENSMUSG00000033032
Gene Nameactin filament associated protein 1-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R8253 (G1)
Quality Score225.009
Status Not validated
Chromosome18
Chromosomal Location61730261-61786702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61741631 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 493 (E493G)
Ref Sequence ENSEMBL: ENSMUSP00000113286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120472] [ENSMUST00000154876]
Predicted Effect probably benign
Transcript: ENSMUST00000120472
AA Change: E493G

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: E493G

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 benign
Transcript: ENSMUST00000154876
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 A T 4: 116,636,643 D313E probably damaging Het
Ap1m1 T A 8: 72,252,886 V242E probably damaging Het
Atad2b T A 12: 4,974,159 S670T possibly damaging Het
Atad2b C T 12: 4,974,160 S670L probably benign Het
Avpr1b A T 1: 131,609,416 T313S probably benign Het
Cblc A G 7: 19,786,232 I362T probably damaging Het
Ccdc171 T A 4: 83,742,970 S1106T probably damaging Het
Csde1 C A 3: 103,038,721 N10K probably damaging Het
Csnk2a2 T C 8: 95,488,377 Y24C Het
Cyb5r4 G T 9: 87,059,055 L420F probably damaging Het
Cyth4 A G 15: 78,602,737 I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,760,867 probably null Het
Dner C T 1: 84,534,877 G323E probably damaging Het
Elf1 T C 14: 79,536,352 M1T probably null Het
Fam13c T C 10: 70,553,203 S520P probably damaging Het
Fam160a2 T A 7: 105,379,087 H885L possibly damaging Het
Gabra2 A G 5: 71,092,070 I30T probably benign Het
Gm6793 T A 8: 112,015,008 M1L probably benign Het
Inpp5a T C 7: 139,481,640 L76P probably damaging Het
Itih5 T C 2: 10,238,595 I381T probably benign Het
Lyrm7 T C 11: 54,850,401 I36V probably null Het
Magi2 A G 5: 20,609,307 I906V probably benign Het
Mup5 C T 4: 61,834,574 A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 R248W probably damaging Het
Olfr469 A G 7: 107,822,569 I300T probably damaging Het
Olfr619 A T 7: 103,604,331 I226L possibly damaging Het
Palm A T 10: 79,807,677 K80* probably null Het
Pcyox1 C T 6: 86,389,062 R390K probably benign Het
Pdx1 T C 5: 147,270,649 probably null Het
Pifo T C 3: 105,998,367 M193V probably benign Het
Pkp2 T A 16: 16,268,542 V689D probably damaging Het
Prkar2a G T 9: 108,740,439 R232L probably damaging Het
Rasgrp4 C T 7: 29,138,862 T87M possibly damaging Het
Ryr2 T A 13: 11,827,553 Q486L possibly damaging Het
Shd T C 17: 55,976,295 V309A Het
Skint7 C T 4: 111,977,478 Q20* probably null Het
Slc35g1 C A 19: 38,402,789 T173K probably damaging Het
Slit2 T C 5: 48,275,671 F1073L probably benign Het
Snx18 T A 13: 113,594,781 D559V probably damaging Het
Tbr1 G T 2: 61,805,241 Q178H probably benign Het
Tmem145 T G 7: 25,307,514 Y114D probably damaging Het
Ttc22 T C 4: 106,638,520 L357P probably damaging Het
Uba2 T C 7: 34,150,898 M377V probably damaging Het
Vps13c T A 9: 67,943,488 Y2242* probably null Het
Xdh T G 17: 73,918,382 Q475P possibly damaging Het
Xrcc6bp1 C T 10: 126,868,674 G197S probably benign Het
Zbtb42 T G 12: 112,680,312 L307R probably damaging Het
Other mutations in Afap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Afap1l1 APN 18 61736854 missense probably benign 0.04
IGL01643:Afap1l1 APN 18 61751826 missense probably damaging 1.00
IGL01754:Afap1l1 APN 18 61737494 critical splice donor site probably null
IGL01945:Afap1l1 APN 18 61756863 missense probably benign 0.00
IGL02025:Afap1l1 APN 18 61733699 splice site probably benign
IGL02413:Afap1l1 APN 18 61733789 missense probably benign 0.00
IGL02418:Afap1l1 APN 18 61752577 missense probably damaging 1.00
IGL02493:Afap1l1 APN 18 61737523 missense possibly damaging 0.83
IGL02888:Afap1l1 APN 18 61748808 missense probably damaging 1.00
IGL03010:Afap1l1 APN 18 61743319 missense probably benign 0.01
IGL03122:Afap1l1 APN 18 61733831 missense probably benign
IGL03145:Afap1l1 APN 18 61741809 missense possibly damaging 0.93
IGL03052:Afap1l1 UTSW 18 61748823 missense probably benign 0.00
R0008:Afap1l1 UTSW 18 61756905 missense probably benign 0.11
R0008:Afap1l1 UTSW 18 61756905 missense probably benign 0.11
R0217:Afap1l1 UTSW 18 61746869 missense probably damaging 1.00
R0421:Afap1l1 UTSW 18 61751874 missense probably damaging 1.00
R0626:Afap1l1 UTSW 18 61739220 missense probably benign 0.07
R0963:Afap1l1 UTSW 18 61736930 missense probably damaging 1.00
R1403:Afap1l1 UTSW 18 61741838 missense probably damaging 1.00
R1403:Afap1l1 UTSW 18 61741838 missense probably damaging 1.00
R1566:Afap1l1 UTSW 18 61755643 missense probably benign
R1572:Afap1l1 UTSW 18 61737499 missense probably damaging 1.00
R1854:Afap1l1 UTSW 18 61743294 missense probably benign
R1992:Afap1l1 UTSW 18 61741771 nonsense probably null
R2063:Afap1l1 UTSW 18 61739122 critical splice donor site probably null
R2064:Afap1l1 UTSW 18 61739122 critical splice donor site probably null
R2065:Afap1l1 UTSW 18 61739122 critical splice donor site probably null
R2066:Afap1l1 UTSW 18 61739122 critical splice donor site probably null
R4120:Afap1l1 UTSW 18 61739172 missense probably damaging 1.00
R4904:Afap1l1 UTSW 18 61738715 missense probably benign 0.00
R4997:Afap1l1 UTSW 18 61751808 missense probably benign
R5379:Afap1l1 UTSW 18 61758650 missense probably damaging 1.00
R5947:Afap1l1 UTSW 18 61743700 missense probably damaging 0.98
R6774:Afap1l1 UTSW 18 61755661 missense probably benign 0.00
R6814:Afap1l1 UTSW 18 61733741 missense probably benign 0.45
R7085:Afap1l1 UTSW 18 61748814 missense possibly damaging 0.91
R7325:Afap1l1 UTSW 18 61736846 missense probably benign 0.44
R7543:Afap1l1 UTSW 18 61756901 missense probably benign 0.01
R7877:Afap1l1 UTSW 18 61746782 missense probably damaging 1.00
R8041:Afap1l1 UTSW 18 61758683 missense probably damaging 1.00
Z1177:Afap1l1 UTSW 18 61752508 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCAAACCCAGGCTCTAGAG -3'
(R):5'- ATGTGCTGGTAAACCAAGGCTG -3'

Sequencing Primer
(F):5'- ATAGGACCTTTCAGTCTAGGCAC -3'
(R):5'- CTGGAAGGAACGGTGGTGTC -3'
Posted On2020-07-28