Incidental Mutation 'IGL02964:Capg'
ID365491
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: 0.248) question?
Stock #IGL02964
Quality Score
Status
Chromosome6
Chromosomal Location72544391-72562983 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72562844 bp
ZygosityHeterozygous
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]
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: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Olfr954 A G 9: 39,461,781 T117A possibly damaging Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Other mutations in Capg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Capg APN 6 72555846 missense probably benign 0.01
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
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 On2015-12-18