Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03067:Gnai3'

409754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnai3

Ensembl Gene

ENSMUSG00000000001

Gene Name

G protein subunit alpha i3

Synonyms

Galphai3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03067

Quality Score

Status

Chromosome

Chromosomal Location

108014596-108053462 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 108025609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000001]

AlphaFold

Q9DC51

PDB Structure

Crystal structure of p115RhoGEF RGS domain in complex with G alpha 13 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000000001

SMART Domains

Protein: ENSMUSP00000000001
Gene: ENSMUSG00000000001

Domain	Start	End	E-Value	Type
G_alpha	13	353	4.43e-218	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal cardiac function and beta-adrenergic sensitivity. Mice homozygous for a different knock-out allele exhibit enhanced T cell migration toward CXCR3 agonists. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,900,909 (GRCm39)	D1162E	probably benign	Het
Abhd2	T	C	7: 79,009,782 (GRCm39)	F386L	probably benign	Het
Adamts6	C	T	13: 104,433,783 (GRCm39)	R71W	probably damaging	Het
Adgrv1	T	C	13: 81,590,599 (GRCm39)	Y4403C	probably damaging	Het
Aldoart1	A	T	4: 72,770,194 (GRCm39)	C205S	possibly damaging	Het
Ap2a1	C	A	7: 44,552,935 (GRCm39)	A711S	probably benign	Het
Arhgef28	A	G	13: 98,124,794 (GRCm39)	I496T	probably benign	Het
Cyp27a1	A	G	1: 74,771,068 (GRCm39)		probably null	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dpy19l1	A	G	9: 24,349,956 (GRCm39)	V428A	probably benign	Het
Foxk2	C	T	11: 121,176,394 (GRCm39)	T180M	possibly damaging	Het
Gm3402	C	A	5: 146,451,399 (GRCm39)	H86N	possibly damaging	Het
Gm3543	A	G	14: 41,802,830 (GRCm39)		probably benign	Het
Hmcn2	C	T	2: 31,236,642 (GRCm39)	P395L	probably damaging	Het
Igsf10	T	C	3: 59,226,339 (GRCm39)	I2445V	probably benign	Het
Il10ra	T	C	9: 45,167,157 (GRCm39)	T465A	probably benign	Het
Itpr2	G	A	6: 146,226,680 (GRCm39)	L1322F	probably damaging	Het
Man1b1	T	C	2: 25,239,344 (GRCm39)	Y536H	probably benign	Het
P3h1	A	G	4: 119,092,477 (GRCm39)	H170R	probably damaging	Het
Pakap	A	T	4: 57,648,038 (GRCm39)	T59S	probably benign	Het
Parp14	A	G	16: 35,676,878 (GRCm39)	V1030A	probably benign	Het
Pdzd2	A	G	15: 12,388,628 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,821,843 (GRCm39)	Y264C	probably damaging	Het
Ptprf	A	G	4: 118,067,910 (GRCm39)	V1799A	possibly damaging	Het
Rap1gap2	A	G	11: 74,284,238 (GRCm39)	S649P	possibly damaging	Het
Rasgrf2	T	C	13: 92,159,413 (GRCm39)	M426V	probably damaging	Het
Rpl9	A	G	5: 65,548,191 (GRCm39)	I18T	possibly damaging	Het
Slc6a19	C	A	13: 73,837,849 (GRCm39)	E217*	probably null	Het
Smtn	C	A	11: 3,480,165 (GRCm39)	R352L	possibly damaging	Het
Supv3l1	C	A	10: 62,265,600 (GRCm39)	D647Y	probably damaging	Het
Sv2a	A	G	3: 96,092,498 (GRCm39)	Y66C	probably damaging	Het
Upk1b	A	G	16: 38,605,272 (GRCm39)	I107T	probably damaging	Het
Yif1a	T	C	19: 5,139,813 (GRCm39)	V86A	possibly damaging	Het
Zfp820	T	C	17: 22,038,801 (GRCm39)	T176A	possibly damaging	Het

Other mutations in Gnai3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Gnai3	APN	3	108,023,073 (GRCm39)	splice site	probably benign
IGL01672:Gnai3	APN	3	108,016,775 (GRCm39)	missense	probably damaging	1.00
IGL02708:Gnai3	APN	3	108,025,660 (GRCm39)	missense	probably benign
PIT4791001:Gnai3	UTSW	3	108,025,621 (GRCm39)	missense	probably benign
R0388:Gnai3	UTSW	3	108,023,073 (GRCm39)	splice site	probably benign
R0554:Gnai3	UTSW	3	108,030,928 (GRCm39)	missense	probably benign	0.01
R1696:Gnai3	UTSW	3	108,016,775 (GRCm39)	missense	probably damaging	1.00
R1835:Gnai3	UTSW	3	108,025,723 (GRCm39)	missense	probably benign
R2057:Gnai3	UTSW	3	108,019,812 (GRCm39)	missense	probably benign
R3744:Gnai3	UTSW	3	108,016,714 (GRCm39)	splice site	probably benign
R5268:Gnai3	UTSW	3	108,030,857 (GRCm39)	critical splice donor site	probably null
R6644:Gnai3	UTSW	3	108,030,852 (GRCm39)	splice site	probably null
R7527:Gnai3	UTSW	3	108,025,693 (GRCm39)	missense
R7544:Gnai3	UTSW	3	108,025,702 (GRCm39)	missense
R9112:Gnai3	UTSW	3	108,030,990 (GRCm39)	missense

Posted On

2016-08-02