Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Gnai1'

372212

Institutional Source

Beutler Lab

Gene Symbol

Gnai1

Ensembl Gene

ENSMUSG00000057614

Gene Name

G protein subunit alpha i1

Synonyms

Gialpha1

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4858 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

18470133-18565353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18496596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 109 (V109E)

Ref Sequence

ENSEMBL: ENSMUSP00000074259 (fasta)

Gene Model

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

AlphaFold

B2RSH2

Predicted Effect

probably benign
Transcript: ENSMUST00000074694
AA Change: V109E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074259
Gene: ENSMUSG00000057614
AA Change: V109E

Domain	Start	End	E-Value	Type
G_alpha	13	353	5.13e-223	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,225,321 (GRCm39)	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,614,563 (GRCm39)	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,338,428 (GRCm39)	D197G	probably damaging	Het
Aoc3	C	A	11: 101,222,488 (GRCm39)	H198Q	probably damaging	Het
Aox1	C	A	1: 58,143,640 (GRCm39)	H1253N	probably benign	Het
Arg1	T	A	10: 24,798,536 (GRCm39)	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,738,087 (GRCm39)	M1741L	probably benign	Het
Bend4	T	C	5: 67,574,915 (GRCm39)	E322G	probably damaging	Het
Brpf1	T	C	6: 113,294,639 (GRCm39)	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,104,160 (GRCm39)	T2058S	probably damaging	Het
Camk4	T	C	18: 33,309,266 (GRCm39)	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742 (GRCm39)	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244 (GRCm39)	I1066S	probably damaging	Het
Ccne1	A	G	7: 37,798,744 (GRCm39)	F292L	probably damaging	Het
Ccz1	A	T	5: 143,949,628 (GRCm39)	M100K	probably damaging	Het
Cep128	T	C	12: 91,226,936 (GRCm39)	T678A	probably benign	Het
Cep290	G	A	10: 100,330,773 (GRCm39)	R151Q	probably benign	Het
Crip3	A	G	17: 46,741,673 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,474,348 (GRCm39)	M1479V	possibly damaging	Het
Defb40	T	A	8: 19,025,093 (GRCm39)	I38F	probably benign	Het
Dnajb2	C	T	1: 75,220,198 (GRCm39)	T221I	possibly damaging	Het
Dpysl3	T	C	18: 43,467,079 (GRCm39)	I279V	probably damaging	Het
Echs1	G	A	7: 139,692,499 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,835 (GRCm39)	N89K	probably damaging	Het
Extl3	T	C	14: 65,313,443 (GRCm39)	T580A	probably benign	Het
Fam171a2	C	T	11: 102,330,982 (GRCm39)	G193E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxw20	A	T	9: 109,063,763 (GRCm39)	V3D	possibly damaging	Het
Fig4	G	A	10: 41,109,586 (GRCm39)	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,339,964 (GRCm39)	T496I	probably benign	Het
Fry	T	C	5: 150,325,108 (GRCm39)	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,406,968 (GRCm39)	A34V	possibly damaging	Het
H2-K2	A	T	17: 34,216,298 (GRCm39)	Y283N	probably benign	Het
Hectd2	A	T	19: 36,582,682 (GRCm39)	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812 (GRCm39)		probably null	Het
Igkv3-1	T	C	6: 70,681,028 (GRCm39)	S76P	probably damaging	Het
Krt15	A	T	11: 100,022,897 (GRCm39)	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lima1	G	A	15: 99,717,457 (GRCm39)	T23I	probably benign	Het
Map4k1	C	A	7: 28,688,195 (GRCm39)	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,063,972 (GRCm39)	T1004K	probably damaging	Het
Meak7	T	G	8: 120,499,262 (GRCm39)	T77P	probably benign	Het
Micall1	T	A	15: 79,007,146 (GRCm39)		probably benign	Het
Ms4a14	A	G	19: 11,278,976 (GRCm39)	I1194T	probably benign	Het
Mtor	T	C	4: 148,539,273 (GRCm39)	*257Q	probably null	Het
Mucl3	G	A	17: 35,948,468 (GRCm39)	T377I	possibly damaging	Het
Ncan	T	A	8: 70,556,705 (GRCm39)	T961S	probably benign	Het
Odad4	A	G	11: 100,441,147 (GRCm39)	N126S	probably damaging	Het
Or10z1	A	T	1: 174,078,262 (GRCm39)	I77N	probably damaging	Het
Or1e29	T	A	11: 73,667,372 (GRCm39)	L260F	probably benign	Het
Or1f19	T	C	16: 3,410,706 (GRCm39)	S149P	probably damaging	Het
Or2t49	T	A	11: 58,392,735 (GRCm39)	I216F	probably damaging	Het
Or8h10	T	G	2: 86,808,693 (GRCm39)	Y149S	probably damaging	Het
Or9e1	T	A	11: 58,732,033 (GRCm39)	L31H	possibly damaging	Het
Pcdhgb2	A	G	18: 37,825,153 (GRCm39)	R715G	probably benign	Het
Pik3c3	T	C	18: 30,477,131 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,354,497 (GRCm39)	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,908,125 (GRCm39)	I1189V	probably damaging	Het
Psg18	A	T	7: 18,087,409 (GRCm39)	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,532,515 (GRCm39)	W496R	probably damaging	Het
Setd5	C	T	6: 113,126,527 (GRCm39)	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,531,729 (GRCm39)	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Speg	G	T	1: 75,398,379 (GRCm39)	R1942L	probably damaging	Het
Sulf2	C	A	2: 165,923,524 (GRCm39)	R565L	probably benign	Het
Tcerg1	T	C	18: 42,657,046 (GRCm39)	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,597,239 (GRCm39)	I440T	possibly damaging	Het
Tgm7	A	T	2: 120,929,445 (GRCm39)		probably null	Het
Tjp2	C	A	19: 24,099,484 (GRCm39)	G433V	probably damaging	Het
Tmc7	C	T	7: 118,142,565 (GRCm39)	G608R	probably damaging	Het
Tmed4	A	G	11: 6,224,456 (GRCm39)	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,592,686 (GRCm39)	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,235,217 (GRCm39)	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,492,445 (GRCm39)		probably null	Het
Trav12-2	G	T	14: 53,854,150 (GRCm39)	M41I	probably benign	Het
Trim6	T	A	7: 103,881,692 (GRCm39)	Y314*	probably null	Het
Utp25	A	G	1: 192,796,072 (GRCm39)	Y686H	probably damaging	Het
Vmn2r118	A	G	17: 55,899,894 (GRCm39)	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154 (GRCm39)	D601E	probably benign	Het
Zfp606	T	A	7: 12,226,983 (GRCm39)	I310N	possibly 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
IGL01717:Gnai1	APN	5	18,496,459 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCTTCATGATAGCTGACTTC -3'
(R):5'- ATCAAAGCCGTGCTGTTCTC -3'

Sequencing Primer
(F):5'- ATAGCTGACTTCTAAAGCTGTGGC -3'
(R):5'- TGGTTAGCAAACACTTCCTCAG -3'

Posted On

2016-03-01