Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03134:Gkap1'

410455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gkap1

Ensembl Gene

ENSMUSG00000021552

Gene Name

G kinase anchoring protein 1

Synonyms

4933400B15Rik, 42kDa, D13Ertd340e, Gkap42

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03134 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

58381160-58422691 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 58411746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091579] [ENSMUST00000223811] [ENSMUST00000224505] [ENSMUST00000225034]

AlphaFold

Q9JMB0

Predicted Effect

probably benign
Transcript: ENSMUST00000091579

SMART Domains

Protein: ENSMUSP00000089169
Gene: ENSMUSG00000021552

Domain	Start	End	E-Value	Type
coiled coil region	47	80	N/A	INTRINSIC
coiled coil region	128	157	N/A	INTRINSIC
coiled coil region	243	299	N/A	INTRINSIC
coiled coil region	321	352	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224273

Predicted Effect

probably benign
Transcript: ENSMUST00000224505

Predicted Effect

probably benign
Transcript: ENSMUST00000225034

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414J04Rik	A	T	11: 21,457,249 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Afdn	C	T	17: 14,066,548 (GRCm39)	T580I	probably benign	Het
Ankfy1	G	T	11: 72,603,011 (GRCm39)	L13F	probably damaging	Het
Arhgap12	T	C	18: 6,111,936 (GRCm39)	T143A	probably benign	Het
Arsi	T	G	18: 61,050,424 (GRCm39)	W436G	probably damaging	Het
Bcl2l10	C	T	9: 75,255,480 (GRCm39)	T99M	probably damaging	Het
Cacna1a	A	G	8: 85,285,716 (GRCm39)	Q740R	probably damaging	Het
Cacna1g	A	G	11: 94,350,651 (GRCm39)	F398S	probably damaging	Het
Ccrl2	A	C	9: 110,884,725 (GRCm39)	Y258D	probably damaging	Het
Cemip	T	A	7: 83,648,445 (GRCm39)	D38V	probably damaging	Het
Chd6	C	G	2: 160,807,403 (GRCm39)	C1937S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,521,387 (GRCm39)		probably benign	Het
Col4a1	T	C	8: 11,290,069 (GRCm39)		probably null	Het
Cops7b	T	A	1: 86,520,056 (GRCm39)	L69Q	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Ddx3y	T	A	Y: 1,278,949 (GRCm39)	D163V	possibly damaging	Het
Dnajc19	A	G	3: 34,132,884 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,826,149 (GRCm39)	T288A	possibly damaging	Het
G2e3	T	A	12: 51,410,813 (GRCm39)		probably benign	Het
Gimap7	A	G	6: 48,700,435 (GRCm39)	N7S	probably benign	Het
Gm3404	G	A	5: 146,463,706 (GRCm39)	R117Q	probably benign	Het
Herc1	T	TN	9: 66,341,345 (GRCm39)		probably benign	Homo
Homer3	T	C	8: 70,738,985 (GRCm39)	Y115H	probably benign	Het
Ighv10-1	T	A	12: 114,442,689 (GRCm39)	M99L	probably benign	Het
Kdm2b	A	C	5: 123,070,737 (GRCm39)	S398R	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mettl25	G	A	10: 105,661,888 (GRCm39)	Q361*	probably null	Het
Mkrn2	T	A	6: 115,590,496 (GRCm39)	I284N	probably damaging	Het
Mmp14	T	A	14: 54,676,563 (GRCm39)	N369K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myo6	C	G	9: 80,199,749 (GRCm39)	N1019K	probably damaging	Het
Myo7a	C	T	7: 97,705,974 (GRCm39)	V1857I	probably damaging	Het
Nhsl3	A	G	4: 129,116,280 (GRCm39)	S783P	possibly damaging	Het
Nktr	T	C	9: 121,575,532 (GRCm39)	S347P	probably damaging	Het
Nup210	T	G	6: 91,007,172 (GRCm39)	D548A	probably damaging	Het
Nup210l	A	G	3: 90,098,194 (GRCm39)	Y1382C	possibly damaging	Het
Or14c41	G	A	7: 86,235,220 (GRCm39)	V246M	probably damaging	Het
Or1e23	T	A	11: 73,407,941 (GRCm39)	Y28F	probably benign	Het
Pax8	T	C	2: 24,311,403 (GRCm39)		probably benign	Het
Pcdhgb7	A	G	18: 37,884,935 (GRCm39)	Y35C	probably damaging	Het
Pld1	A	T	3: 28,083,316 (GRCm39)	R145S	probably benign	Het
Pom121	G	A	5: 135,410,935 (GRCm39)	P741S	unknown	Het
Rarb	T	C	14: 16,436,910 (GRCm38)	N204D	probably damaging	Het
Sdc3	A	G	4: 130,548,815 (GRCm39)	E337G	probably benign	Het
Serpina9	T	C	12: 103,967,696 (GRCm39)	K233R	probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,427,999 (GRCm39)	M159K	probably benign	Het
Stxbp4	C	A	11: 90,498,010 (GRCm39)	R96S	probably damaging	Het
Tg	A	C	15: 66,612,567 (GRCm39)	E375A	probably damaging	Het
Tmem176b	A	G	6: 48,815,287 (GRCm39)	V2A	probably benign	Het
Toporsl	G	A	4: 52,610,281 (GRCm39)	C58Y	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vav3	T	C	3: 109,470,410 (GRCm39)		probably benign	Het
Zfp180	T	A	7: 23,804,170 (GRCm39)	D196E	possibly damaging	Het
Zfp407	C	T	18: 84,228,080 (GRCm39)	S1843N	probably damaging	Het

Other mutations in Gkap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Gkap1	APN	13	58,384,853 (GRCm39)	missense	probably damaging	1.00
IGL01556:Gkap1	APN	13	58,411,106 (GRCm39)	missense	probably benign	0.10
R1263:Gkap1	UTSW	13	58,403,587 (GRCm39)	missense	probably benign	0.03
R1750:Gkap1	UTSW	13	58,384,857 (GRCm39)	nonsense	probably null
R4672:Gkap1	UTSW	13	58,411,770 (GRCm39)	missense	possibly damaging	0.70
R5165:Gkap1	UTSW	13	58,411,010 (GRCm39)	critical splice donor site	probably null
R7639:Gkap1	UTSW	13	58,411,784 (GRCm39)	missense	probably damaging	0.99
R7721:Gkap1	UTSW	13	58,384,799 (GRCm39)	critical splice donor site	probably null
R7775:Gkap1	UTSW	13	58,398,966 (GRCm39)	missense	probably benign	0.09
R8519:Gkap1	UTSW	13	58,386,506 (GRCm39)	missense	probably damaging	1.00
R8672:Gkap1	UTSW	13	58,391,662 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02