Incidental Mutation 'IGL02529:Capg'
ID297223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capg
Ensembl Gene ENSMUSG00000056737
Gene Namecapping protein (actin filament), gelsolin-like
SynonymsgCap39, mbh1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL02529
Quality Score
Status
Chromosome6
Chromosomal Location72544391-72562983 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 72555846 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 98 (V98I)
Ref Sequence ENSEMBL: ENSMUSP00000117440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071044] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000126124] [ENSMUST00000134809] [ENSMUST00000155188] [ENSMUST00000155705]
Predicted Effect probably benign
Transcript: ENSMUST00000071044
AA Change: V98I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114071
AA Change: V98I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114072
AA Change: V98I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
GEL 253 348 5.76e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126101
AA Change: V98I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126124
AA Change: V98I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 193 1.19e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127770
Predicted Effect probably benign
Transcript: ENSMUST00000134809
SMART Domains Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
Pfam:Gelsolin 28 90 4.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137435
Predicted Effect probably benign
Transcript: ENSMUST00000155188
AA Change: V98I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155705
AA Change: V98I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
AA Change: V98I

DomainStartEndE-ValueType
GEL 19 104 1.27e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156168
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Inactivation of this loci results in impaired immune cell motility which manifests in homozygous mutant mice as increased susceptibility to some bacterial infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,233 H925L probably benign Het
Agpat5 T A 8: 18,881,754 Y297N possibly damaging Het
Apobec3 C T 15: 79,897,687 probably benign Het
Atpaf1 C A 4: 115,791,269 A161E probably damaging Het
Bnc1 A T 7: 81,977,368 D91E probably damaging Het
Ccdc7b C T 8: 129,178,225 L115F possibly damaging Het
Ces2a T A 8: 104,737,219 probably benign Het
Cldn6 T G 17: 23,681,317 V85G probably damaging Het
Clec2e T C 6: 129,098,496 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx38 T C 8: 109,559,013 E396G probably benign Het
Dock8 A T 19: 25,100,926 K532* probably null Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Gmip G A 8: 69,816,789 G537E probably damaging Het
Hacd1 T C 2: 14,045,202 H64R probably damaging Het
Hdac3 G T 18: 37,944,132 Q230K probably benign Het
Htt C T 5: 34,819,043 probably benign Het
Il18r1 A G 1: 40,487,059 D255G possibly damaging Het
Krt82 T A 15: 101,550,396 R70* probably null Het
Krt9 G T 11: 100,189,966 H353Q probably damaging Het
Kyat3 T C 3: 142,720,474 I57T probably benign Het
L1td1 A G 4: 98,737,421 K618E probably benign Het
Limch1 C A 5: 67,002,613 N617K possibly damaging Het
Lsm8 T C 6: 18,851,652 F34S probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mmrn2 C A 14: 34,398,613 A480E possibly damaging Het
Mthfd1 A G 12: 76,303,709 I474V probably benign Het
Mycl A G 4: 122,996,977 K152R probably damaging Het
Numa1 A G 7: 101,999,953 probably null Het
Olfr474 G T 7: 107,955,216 V192F possibly damaging Het
Otog A C 7: 46,259,957 D617A probably damaging Het
Ppef2 A G 5: 92,244,737 I267T probably damaging Het
Ptprq A G 10: 107,635,365 Y1392H probably benign Het
Rasgrp3 G T 17: 75,525,102 K639N possibly damaging Het
Rgs19 C T 2: 181,689,150 R203H probably benign Het
Scnn1g C A 7: 121,742,446 probably benign Het
Tmem181b-ps T C 17: 6,466,921 noncoding transcript Het
Vmn2r118 A G 17: 55,610,870 V214A possibly damaging Het
Zfp811 T C 17: 32,797,815 Y417C probably damaging Het
Other mutations in Capg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02569:Capg APN 6 72561049 missense probably damaging 1.00
IGL02613:Capg APN 6 72555611 missense probably damaging 0.99
IGL02629:Capg APN 6 72555754 missense probably benign 0.34
IGL02964:Capg APN 6 72562844 missense probably damaging 0.99
R0014:Capg UTSW 6 72561043 missense possibly damaging 0.95
R1937:Capg UTSW 6 72558253 splice site probably null
R2378:Capg UTSW 6 72555491 missense probably benign 0.07
R4284:Capg UTSW 6 72561099 missense probably damaging 1.00
R5043:Capg UTSW 6 72558254 nonsense probably null
R5233:Capg UTSW 6 72555526 missense probably damaging 1.00
R5955:Capg UTSW 6 72555500 missense probably benign 0.21
R6486:Capg UTSW 6 72557750 nonsense probably null
R6792:Capg UTSW 6 72555554 missense possibly damaging 0.54
R7760:Capg UTSW 6 72557786 missense probably damaging 1.00
R8241:Capg UTSW 6 72556253 critical splice donor site probably null
Z1176:Capg UTSW 6 72555476 critical splice acceptor site probably null
Z1177:Capg UTSW 6 72556230 missense probably damaging 1.00
Posted On2015-04-16