Mutagenetix > Incidental Mutation

Incidental Mutation 'R4284:Capg'

321988

Institutional Source

Beutler Lab

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: 0.180) question?

Stock #

R4284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72521374-72539966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72538082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 323 (Y323H)

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: Y323H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063389
Gene: ENSMUSG00000056737
AA Change: Y323H

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: Y323H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109705
Gene: ENSMUSG00000056737
AA Change: Y323H

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: Y323H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109706
Gene: ENSMUSG00000056737
AA Change: Y323H

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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Cdh23	T	C	10: 60,139,272 (GRCm39)	T3314A	possibly damaging	Het
Cilp	A	T	9: 65,185,560 (GRCm39)	T552S	probably damaging	Het
Cox16	T	C	12: 81,521,293 (GRCm39)		probably null	Het
Ctu2	G	A	8: 123,204,978 (GRCm39)	V88I	probably benign	Het
Elfn1	A	T	5: 139,958,069 (GRCm39)	K358*	probably null	Het
Enpp6	T	C	8: 47,522,050 (GRCm39)	F328S	probably damaging	Het
Galnt12	T	C	4: 47,104,231 (GRCm39)	L163P	probably damaging	Het
Gcfc2	G	A	6: 81,918,372 (GRCm39)	R354H	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Ikbke	C	T	1: 131,203,515 (GRCm39)		probably null	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Jmjd6	T	C	11: 116,733,534 (GRCm39)	R48G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lilra6	T	C	7: 3,911,803 (GRCm39)	H285R	possibly damaging	Het
Lrp2	G	A	2: 69,310,438 (GRCm39)	R2712C	possibly damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Relch	A	G	1: 105,649,012 (GRCm39)	D717G	probably damaging	Het
Sema3c	A	G	5: 17,883,345 (GRCm39)	T318A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sox5	T	C	6: 143,781,055 (GRCm39)	K570E	probably damaging	Het
Ssbp1	T	G	6: 40,454,851 (GRCm39)		probably null	Het
Sult5a1	A	G	8: 123,875,969 (GRCm39)	S116P	probably damaging	Het
Tktl2	T	A	8: 66,965,808 (GRCm39)	D455E	probably damaging	Het
Tm9sf1	T	C	14: 55,878,780 (GRCm39)	Y204C	probably damaging	Het
Tmem161a	A	G	8: 70,630,076 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,623,211 (GRCm39)	K13663*	probably null	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGAAGATGAGCTTGCAGGTG -3'
(R):5'- CCGGGAGTCTCTTTGGAAAC -3'

Sequencing Primer
(F):5'- AAGATGAGCTTGCAGGTGGTTTTC -3'
(R):5'- TTAATGCTAAAAGACTGAAAAGGCC -3'

Posted On

2015-06-20