Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01717:Gnai1'

104988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnai1

Ensembl Gene

ENSMUSG00000057614

Gene Name

G protein subunit alpha i1

Synonyms

Gialpha1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

18470133-18565353 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 18496459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074694]

AlphaFold

B2RSH2

Predicted Effect

probably null
Transcript: ENSMUST00000074694

SMART Domains

Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614

Domain	Start	End	E-Value	Type
G_alpha	13	353	5.13e-223	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 are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit long term memory defects. [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
Aif1	A	T	17: 35,390,531 (GRCm39)	M73K	probably damaging	Het
Alk	T	C	17: 72,910,377 (GRCm39)	I110V	probably benign	Het
Aoah	T	C	13: 21,184,147 (GRCm39)	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,808,763 (GRCm39)	S350P	possibly damaging	Het
Bltp1	A	G	3: 37,088,885 (GRCm39)	S4112G	probably benign	Het
Capn12	A	G	7: 28,588,530 (GRCm39)	D540G	probably benign	Het
Chd6	A	G	2: 160,807,179 (GRCm39)	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,841,603 (GRCm39)	T1284A	unknown	Het
Col24a1	T	C	3: 145,230,018 (GRCm39)		probably benign	Het
Col4a5	T	A	X: 140,422,234 (GRCm39)	V1070D	unknown	Het
Col6a5	T	C	9: 105,817,472 (GRCm39)	T280A	unknown	Het
Dicer1	A	T	12: 104,669,046 (GRCm39)	L1212*	probably null	Het
Gigyf1	T	A	5: 137,523,953 (GRCm39)	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,358,155 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,735,864 (GRCm39)	R1704*	probably null	Het
Incenp	A	G	19: 9,870,629 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,373,146 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,017,113 (GRCm39)	K319E	probably damaging	Het
Neb	T	C	2: 52,079,879 (GRCm39)	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,418,938 (GRCm39)	I732T	probably damaging	Het
Pacs1	T	A	19: 5,218,000 (GRCm39)	K130N	probably damaging	Het
Pappa2	A	G	1: 158,684,702 (GRCm39)		probably null	Het
Pole2	T	C	12: 69,260,623 (GRCm39)	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,997,140 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,357,510 (GRCm39)	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,640,526 (GRCm39)	Q446*	probably null	Het
Slc26a3	T	C	12: 31,513,476 (GRCm39)	I466T	probably benign	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,247,335 (GRCm39)		probably benign	Het
Tlr5	A	T	1: 182,802,963 (GRCm39)	I756F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het

Other mutations in Gnai1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Gnai1	APN	5	18,496,617 (GRCm39)	missense	probably benign	0.00
IGL00981:Gnai1	APN	5	18,472,045 (GRCm39)	missense	probably benign	0.05
IGL01958:Gnai1	APN	5	18,478,568 (GRCm39)	missense	probably damaging	1.00
R0238:Gnai1	UTSW	5	18,478,548 (GRCm39)	missense	probably damaging	1.00
R0238:Gnai1	UTSW	5	18,478,548 (GRCm39)	missense	probably damaging	1.00
R4828:Gnai1	UTSW	5	18,496,470 (GRCm39)	missense	probably damaging	1.00
R4858:Gnai1	UTSW	5	18,496,596 (GRCm39)	missense	probably benign
R5190:Gnai1	UTSW	5	18,496,596 (GRCm39)	missense	probably benign
R5591:Gnai1	UTSW	5	18,476,844 (GRCm39)	missense	probably benign	0.03
R6636:Gnai1	UTSW	5	18,478,472 (GRCm39)	missense	probably damaging	1.00
R7326:Gnai1	UTSW	5	18,494,549 (GRCm39)	missense
R8184:Gnai1	UTSW	5	18,496,504 (GRCm39)	missense
R9393:Gnai1	UTSW	5	18,565,055 (GRCm39)	missense
Z1177:Gnai1	UTSW	5	18,513,550 (GRCm39)	critical splice donor site	probably null

Posted On

2014-01-21