Mutagenetix > Incidental Mutations

Incidental Mutation 'R4746:Gnb1'

356718

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

041968-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4746 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155491361-155559269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 155543074 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 104 (A104E)

Ref Sequence

ENSEMBL: ENSMUSP00000135492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030940] [ENSMUST00000105616] [ENSMUST00000165335] [ENSMUST00000176411] [ENSMUST00000176637] [ENSMUST00000177094]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030940
AA Change: A104E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105616
AA Change: A104E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165335
AA Change: A104E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175705

Predicted Effect

probably damaging
Transcript: ENSMUST00000176411
AA Change: A104E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135769
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
Blast:WD40	86	108	5e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000176637
AA Change: A104E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177094
AA Change: A104E

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

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: A104E

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,440,765	S180N	probably benign	Het
Atp5a1	G	T	18: 77,778,742	G165V	probably benign	Het
Cbfa2t2	A	C	2: 154,523,925	M352L	possibly damaging	Het
Ccser2	A	T	14: 36,909,125	D98E	probably damaging	Het
Cfap20	A	G	8: 95,422,056		probably null	Het
Chuk	A	T	19: 44,088,771	C379S	possibly damaging	Het
Cic	G	A	7: 25,288,480	G1531E	probably damaging	Het
Ckap4	A	G	10: 84,533,520	V116A	possibly damaging	Het
Cxcl13	A	G	5: 95,959,897	K71E	probably damaging	Het
Dmxl2	A	T	9: 54,451,796	I210N	probably benign	Het
Donson	A	C	16: 91,682,237	V397G	probably damaging	Het
Dpy19l1	C	A	9: 24,450,670	V332L	probably benign	Het
Dsp	T	C	13: 38,195,104	S1343P	possibly damaging	Het
Egflam	A	G	15: 7,224,639		probably null	Het
Eif2b4	A	G	5: 31,187,653	I550T	probably damaging	Het
Fbxo47	A	T	11: 97,879,428	V46D	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gnptg	ATTGTTGATGATTT	AT	17: 25,235,597		probably benign	Het
Htra4	A	T	8: 25,033,697	V284E	probably damaging	Het
Igkv3-3	A	T	6: 70,687,324	D50V	probably benign	Het
Irs3	A	G	5: 137,643,947	S410P	probably benign	Het
Kif26b	C	T	1: 178,873,981	Q642*	probably null	Het
Klhl11	A	T	11: 100,464,350	M215K	probably benign	Het
Lamc3	A	G	2: 31,905,614	N337S	possibly damaging	Het
Lrrc55	G	A	2: 85,196,170	A170V	probably damaging	Het
March3	A	T	18: 56,776,072	W214R	probably damaging	Het
Megf11	A	C	9: 64,508,745	T79P	probably damaging	Het
Mia3	A	G	1: 183,345,220	V26A	possibly damaging	Het
Myrf	A	G	19: 10,218,591	F353S	probably damaging	Het
Obscn	A	G	11: 59,079,808		probably null	Het
Ocstamp	T	C	2: 165,396,288	K352R	probably benign	Het
Olfr721-ps1	A	T	14: 14,407,359	I46F	probably benign	Het
Olfr874	G	T	9: 37,746,157	V8L	probably benign	Het
Osbpl3	T	C	6: 50,328,674	N434S	probably damaging	Het
Pign	A	C	1: 105,585,024	L645V	probably benign	Het
Polr2a	A	G	11: 69,735,674	S1540P	probably benign	Het
Ppp2r3c	A	T	12: 55,302,635		probably null	Het
Ptprf	A	G	4: 118,225,039	V414A	possibly damaging	Het
Pyroxd2	G	A	19: 42,752,400	R22*	probably null	Het
Rab11fip2	G	A	19: 59,937,110	A225V	probably damaging	Het
Ranbp2	C	T	10: 58,492,670	A2836V	probably damaging	Het
Rimklb	G	A	6: 122,472,632	R28*	probably null	Het
Scyl3	G	A	1: 163,949,251	R404Q	probably damaging	Het
Slc9a8	A	T	2: 167,441,170	K79*	probably null	Het
Sowaha	A	T	11: 53,479,336		probably null	Het
Tnk1	A	G	11: 69,855,166	V311A	probably damaging	Het
Tnrc6a	T	A	7: 123,189,997	S1680T	probably damaging	Het
Tpp1	T	C	7: 105,748,951	Y335C	probably damaging	Het
Ttc39b	A	G	4: 83,244,103	V308A	probably benign	Het
Ttll3	A	C	6: 113,407,392	Q557P	probably damaging	Het
Ulk3	G	A	9: 57,592,918	A266T	probably benign	Het
Wfdc6b	C	A	2: 164,617,433	C138*	probably null	Het
Znrd1as	A	T	17: 36,964,873	I116L	probably benign	Het

Other mutations in Gnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Gnb1	APN	4	155543188	missense	probably damaging	1.00
IGL02052:Gnb1	APN	4	155533691	splice site	probably benign
IGL02164:Gnb1	APN	4	155557174	splice site	probably null
IGL02470:Gnb1	APN	4	155527513	splice site	probably benign
IGL02928:Gnb1	APN	4	155553406	missense	probably benign
IGL03293:Gnb1	APN	4	155540547	splice site	probably benign
R0034:Gnb1	UTSW	4	155551689	missense	probably benign	0.03
R0325:Gnb1	UTSW	4	155551683	missense	probably benign	0.21
R1538:Gnb1	UTSW	4	155551714	missense	probably benign	0.00
R3498:Gnb1	UTSW	4	155555026	missense	possibly damaging	0.49
R4177:Gnb1	UTSW	4	155540656	intron	probably benign
R4833:Gnb1	UTSW	4	155543067	missense	possibly damaging	0.57
R5727:Gnb1	UTSW	4	155555102	missense	probably benign	0.00
R6958:Gnb1	UTSW	4	155543194	critical splice donor site	probably null
R7022:Gnb1	UTSW	4	155553456	missense	probably damaging	1.00
R8321:Gnb1	UTSW	4	155555025	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GACGTATGCCATCACACCTATC -3'
(R):5'- AGCAGTATACATCCCAGTTAGCAG -3'

Sequencing Primer
(F):5'- GAGACAGTTTTACTATGGAGCCC -3'
(R):5'- GTTAGCAGCTTACACCACTGG -3'

Posted On

2015-11-11