Incidental Mutation 'IGL02964:Capg'
ID 365491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capg
Ensembl Gene ENSMUSG00000056737
Gene Name capping actin protein, gelsolin like
Synonyms mbh1, gCap39
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02964
Quality Score
Status
Chromosome 6
Chromosomal Location 72521374-72539966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72539827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 340 (I340N)
Ref Sequence ENSEMBL: ENSMUSP00000109706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000071044] [ENSMUST00000114069] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000141833]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070990
SMART Domains Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698

DomainStartEndE-ValueType
Pfam:ELMO_CED12 151 314 3.3e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071044
AA Change: I340N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: I340N

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: ENSMUST00000114069
SMART Domains Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698

DomainStartEndE-ValueType
Pfam:ELMO_CED12 154 313 1.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114071
AA Change: I340N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: I340N

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 damaging
Transcript: ENSMUST00000114072
AA Change: I340N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: I340N

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
SMART Domains Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737

DomainStartEndE-ValueType
GEL 19 113 8.6e-27 SMART
GEL 136 228 1.86e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127770
Predicted Effect probably benign
Transcript: ENSMUST00000141833
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,242,636 (GRCm39) I1364V possibly damaging Het
Adamts19 T A 18: 59,122,037 (GRCm39) I813K probably damaging Het
Adamtsl1 G T 4: 86,342,594 (GRCm39) C1703F probably damaging Het
Atp2b4 T A 1: 133,658,303 (GRCm39) T536S probably damaging Het
Casc3 T A 11: 98,719,749 (GRCm39) M567K probably damaging Het
Chmp1a T C 8: 123,934,806 (GRCm39) E50G probably damaging Het
Cryba1 T C 11: 77,610,207 (GRCm39) probably benign Het
Dnah8 T A 17: 30,965,735 (GRCm39) Y2356N probably damaging Het
Ercc6 T G 14: 32,292,060 (GRCm39) S1141R probably benign Het
Exd2 T A 12: 80,527,302 (GRCm39) V165D probably damaging Het
Fbln1 A T 15: 85,115,663 (GRCm39) E233V probably damaging Het
Ftsj3 T C 11: 106,143,163 (GRCm39) K384E probably damaging Het
Ggt5 A G 10: 75,439,962 (GRCm39) I188V probably benign Het
Gm42742 A T 7: 126,616,018 (GRCm39) S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 (GRCm39) D449E probably damaging Het
Igfbp7 C T 5: 77,499,188 (GRCm39) S239N possibly damaging Het
Klf11 C T 12: 24,705,626 (GRCm39) A360V probably damaging Het
Kmt2e T A 5: 23,672,098 (GRCm39) probably benign Het
Magea8 A T X: 153,769,678 (GRCm39) C144S probably damaging Het
Med4 A G 14: 73,755,361 (GRCm39) Q223R probably damaging Het
Mmd2 G T 5: 142,555,232 (GRCm39) F153L probably damaging Het
Nav3 C A 10: 109,572,814 (GRCm39) R1615L probably damaging Het
Nisch A G 14: 30,902,769 (GRCm39) probably benign Het
Nr1i3 A T 1: 171,041,964 (GRCm39) Y16F probably benign Het
Or5w1 C A 2: 87,487,058 (GRCm39) C69F probably damaging Het
Or7e169 G A 9: 19,757,550 (GRCm39) R122* probably null Het
Or7g16 A G 9: 18,727,024 (GRCm39) C189R probably damaging Het
Or8g34 A G 9: 39,373,077 (GRCm39) T117A possibly damaging Het
Ppil6 C A 10: 41,383,479 (GRCm39) H252N probably benign Het
Ppp6r2 C T 15: 89,143,378 (GRCm39) P175L probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbm20 C A 19: 53,802,133 (GRCm39) L214I probably benign Het
Rhox2f T C X: 36,753,334 (GRCm39) V24A probably benign Het
Scnm1 T C 3: 95,040,348 (GRCm39) K96E probably benign Het
Sec16a A C 2: 26,309,735 (GRCm39) D2090E probably benign Het
Smg6 T C 11: 74,821,576 (GRCm39) probably null Het
Snx2 T C 18: 53,327,630 (GRCm39) S119P probably benign Het
Stam A G 2: 14,120,779 (GRCm39) probably benign Het
Sult2b1 T A 7: 45,384,698 (GRCm39) E126V probably benign Het
Tor1aip1 T C 1: 155,911,590 (GRCm39) E131G probably damaging Het
Ttn C T 2: 76,619,040 (GRCm39) C14367Y probably damaging Het
Ubr4 T C 4: 139,135,131 (GRCm39) F821S possibly damaging Het
Vmn1r32 T C 6: 66,529,922 (GRCm39) N285D probably benign Het
Vmn2r23 T C 6: 123,718,741 (GRCm39) L698P possibly damaging Het
Wnt8a T A 18: 34,675,474 (GRCm39) L18Q possibly damaging Het
Zfp747 T C 7: 126,973,666 (GRCm39) E168G probably benign Het
Other mutations in Capg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Capg APN 6 72,532,829 (GRCm39) missense probably benign 0.01
IGL02569:Capg APN 6 72,538,032 (GRCm39) missense probably damaging 1.00
IGL02613:Capg APN 6 72,532,594 (GRCm39) missense probably damaging 0.99
IGL02629:Capg APN 6 72,532,737 (GRCm39) missense probably benign 0.34
R0014:Capg UTSW 6 72,538,026 (GRCm39) missense possibly damaging 0.95
R1937:Capg UTSW 6 72,535,236 (GRCm39) splice site probably null
R2378:Capg UTSW 6 72,532,474 (GRCm39) missense probably benign 0.07
R4284:Capg UTSW 6 72,538,082 (GRCm39) missense probably damaging 1.00
R5043:Capg UTSW 6 72,535,237 (GRCm39) nonsense probably null
R5233:Capg UTSW 6 72,532,509 (GRCm39) missense probably damaging 1.00
R5955:Capg UTSW 6 72,532,483 (GRCm39) missense probably benign 0.21
R6486:Capg UTSW 6 72,534,733 (GRCm39) nonsense probably null
R6792:Capg UTSW 6 72,532,537 (GRCm39) missense possibly damaging 0.54
R7760:Capg UTSW 6 72,534,769 (GRCm39) missense probably damaging 1.00
R8241:Capg UTSW 6 72,533,236 (GRCm39) critical splice donor site probably null
R9242:Capg UTSW 6 72,532,869 (GRCm39) missense probably damaging 1.00
R9243:Capg UTSW 6 72,538,070 (GRCm39) missense probably benign
Z1176:Capg UTSW 6 72,532,459 (GRCm39) critical splice acceptor site probably null
Z1177:Capg UTSW 6 72,533,213 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18