Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02613:Capg'

300549

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 #

IGL02613

Quality Score

Status

Chromosome

Chromosomal Location

72521374-72539966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72532594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 53 (N53S)

Ref Sequence

ENSEMBL: ENSMUSP00000109706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071044] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000126124] [ENSMUST00000134809] [ENSMUST00000155188] [ENSMUST00000155705]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071044
AA Change: N53S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
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: ENSMUST00000114071
AA Change: N53S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
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: N53S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
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: N53S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART
GEL	136	228	1.86e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126124
AA Change: N53S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
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
AA Change: N53S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118022
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
Pfam:Gelsolin	28	90	4.5e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155188
AA Change: N53S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
GEL	19	113	8.6e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155705
AA Change: N53S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117440
Gene: ENSMUSG00000056737
AA Change: N53S

Domain	Start	End	E-Value	Type
GEL	19	104	1.27e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137435

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,655,833 (GRCm39)	I549L	possibly damaging	Het
Arhgef17	A	T	7: 100,578,103 (GRCm39)	H948Q	probably damaging	Het
Auh	A	G	13: 53,073,035 (GRCm39)		probably null	Het
Btf3	A	G	13: 98,446,714 (GRCm39)		probably benign	Het
Cfap70	T	C	14: 20,459,132 (GRCm39)		probably null	Het
Chrna5	A	T	9: 54,913,705 (GRCm39)	E417V	probably damaging	Het
Coch	A	G	12: 51,642,132 (GRCm39)	T35A	possibly damaging	Het
Dock4	T	A	12: 40,860,465 (GRCm39)	L1284M	probably damaging	Het
Etv3	A	G	3: 87,443,702 (GRCm39)	T429A	possibly damaging	Het
Fmnl2	T	C	2: 52,963,747 (GRCm39)		probably null	Het
Glb1	A	G	9: 114,293,130 (GRCm39)	T502A	possibly damaging	Het
Greb1	C	A	12: 16,789,889 (GRCm39)		probably null	Het
Hspg2	A	G	4: 137,271,731 (GRCm39)	Y2499C	probably damaging	Het
Kcnq1	A	T	7: 142,979,863 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 102,980,409 (GRCm39)	S1497P	probably damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Mcc	A	G	18: 44,563,021 (GRCm39)	L982P	probably damaging	Het
Naif1	T	A	2: 32,345,172 (GRCm39)	M292K	possibly damaging	Het
Npb	T	A	11: 120,499,716 (GRCm39)	C99S	probably damaging	Het
Obscn	G	T	11: 58,892,958 (GRCm39)	R6763S	probably benign	Het
Or13a21	A	G	7: 139,999,383 (GRCm39)	V101A	probably benign	Het
Or5p56	C	T	7: 107,590,381 (GRCm39)	Q270*	probably null	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnm3	A	T	11: 71,948,898 (GRCm39)	S736T	probably damaging	Het
Polr1a	A	T	6: 71,944,304 (GRCm39)	E1257V	probably damaging	Het
Sec63	G	A	10: 42,677,703 (GRCm39)	D270N	probably damaging	Het
Snrnp200	C	T	2: 127,060,346 (GRCm39)	T530I	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Syk	G	A	13: 52,797,076 (GRCm39)	G546R	probably damaging	Het
Tfap2d	T	A	1: 19,189,415 (GRCm39)	L265Q	probably damaging	Het
Trav12-1	C	T	14: 53,775,742 (GRCm39)	S9L	possibly damaging	Het
Trerf1	T	C	17: 47,659,766 (GRCm39)		noncoding transcript	Het
Ttn	T	A	2: 76,558,704 (GRCm39)	I29726L	possibly damaging	Het
Usp18	A	G	6: 121,238,049 (GRCm39)	T143A	probably benign	Het
Usp32	A	T	11: 84,930,896 (GRCm39)	N511K	probably damaging	Het
Wdr64	C	T	1: 175,594,613 (GRCm39)	Q4*	probably null	Het
Zfp277	A	G	12: 40,379,514 (GRCm39)	F340S	probably damaging	Het

Other mutations in Capg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02629:Capg	APN	6	72,532,737 (GRCm39)	missense	probably benign	0.34
IGL02964:Capg	APN	6	72,539,827 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16