Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02569:Capg'

298959

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 #

IGL02569

Quality Score

Status

Chromosome

Chromosomal Location

72521374-72539966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72538032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 306 (E306A)

Ref Sequence

ENSEMBL: ENSMUSP00000109706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000071044] [ENSMUST00000114069] [ENSMUST00000114071] [ENSMUST00000114072] [ENSMUST00000126101] [ENSMUST00000126124] [ENSMUST00000155188]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070990

SMART Domains

Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	151	314	3.3e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071044
AA Change: E306A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: E306A

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: ENSMUST00000114069

SMART Domains

Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	154	313	1.2e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114071
AA Change: E306A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: E306A

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: E306A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: E306A

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

SMART Domains

Protein: ENSMUSP00000121121
Gene: ENSMUSG00000056737

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126124

SMART Domains

Protein: ENSMUSP00000121221
Gene: ENSMUSG00000056737

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: ENSMUST00000137435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127770

Predicted Effect

probably benign
Transcript: ENSMUST00000155188

SMART Domains

Protein: ENSMUSP00000120363
Gene: ENSMUSG00000056737

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,034,061 (GRCm39)	D2223G	probably damaging	Het
Brd1	A	G	15: 88,598,132 (GRCm39)	L538P	probably damaging	Het
Cacna2d2	T	C	9: 107,391,245 (GRCm39)	V424A	probably damaging	Het
Cdc14b	T	C	13: 64,373,428 (GRCm39)	Y115C	probably benign	Het
Crat	G	A	2: 30,294,542 (GRCm39)	R509W	probably damaging	Het
Ddx60	A	G	8: 62,477,985 (GRCm39)	N1594S	possibly damaging	Het
Fabp2	T	C	3: 122,689,113 (GRCm39)	F18L	probably damaging	Het
Fam187a	A	G	11: 102,776,985 (GRCm39)	K263R	probably benign	Het
Fam227a	C	T	15: 79,518,323 (GRCm39)	C323Y	probably benign	Het
Fas	A	G	19: 34,297,962 (GRCm39)	E210G	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,569 (GRCm39)	F241S	probably damaging	Het
Gramd1a	A	T	7: 30,829,932 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,573,244 (GRCm39)	M2135K	probably benign	Het
Ikbkb	G	T	8: 23,183,899 (GRCm39)	Q84K	probably damaging	Het
Kcnk9	T	C	15: 72,384,426 (GRCm39)	T251A	probably benign	Het
Mphosph9	C	A	5: 124,435,634 (GRCm39)	E600*	probably null	Het
Or2ag1	T	A	7: 106,313,793 (GRCm39)	I32L	probably benign	Het
Or2ag1b	T	A	7: 106,288,849 (GRCm39)	T30S	probably benign	Het
Pde1a	C	A	2: 79,698,602 (GRCm39)	K341N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Scart2	A	C	7: 139,878,275 (GRCm39)	I885L	probably benign	Het
Slc17a3	A	G	13: 24,030,285 (GRCm39)	Y132C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
St6galnac1	T	C	11: 116,658,528 (GRCm39)	D312G	probably damaging	Het
Tardbp	A	G	4: 148,703,639 (GRCm39)		probably null	Het
Tex9	C	T	9: 72,385,645 (GRCm39)	V8I	probably damaging	Het
Tpr	T	A	1: 150,301,382 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,129 (GRCm39)	W182*	probably null	Het
Vmn2r61	G	A	7: 41,926,070 (GRCm39)	G525E	probably damaging	Het
Zfp111	T	C	7: 23,906,494 (GRCm39)	T2A	possibly 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
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
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