Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Gnb1'

699240

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9217 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

155575818-155643726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155625033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 75 (Q75L)

Ref Sequence

ENSEMBL: ENSMUSP00000030940 (fasta)

Gene Model

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

AlphaFold

P62874

Predicted Effect

probably damaging
Transcript: ENSMUST00000030940
AA Change: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: Q75L

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: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: Q75L

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: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: Q75L

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: ENSMUST00000176411
AA Change: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135769
Gene: ENSMUSG00000029064
AA Change: Q75L

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: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: Q75L

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: Q75L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: Q75L

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

Meta Mutation Damage Score

0.6277

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abca15	A	T	7: 119,987,439 (GRCm39)	M1242L	probably benign	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Aga	G	A	8: 53,966,627 (GRCm39)	G60S	probably damaging	Het
Amigo1	T	A	3: 108,095,944 (GRCm39)	V481D	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Tnnt1	T	C	7: 4,513,381 (GRCm39)	S42G	probably benign	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Wdr47	T	A	3: 108,525,890 (GRCm39)	C138S	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	Het

Other mutations in Gnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Gnb1	APN	4	155,627,645 (GRCm39)	missense	probably damaging	1.00
IGL02052:Gnb1	APN	4	155,618,148 (GRCm39)	splice site	probably benign
IGL02164:Gnb1	APN	4	155,641,631 (GRCm39)	splice site	probably null
IGL02470:Gnb1	APN	4	155,611,970 (GRCm39)	splice site	probably benign
IGL02928:Gnb1	APN	4	155,637,863 (GRCm39)	missense	probably benign
IGL03293:Gnb1	APN	4	155,625,004 (GRCm39)	splice site	probably benign
R0034:Gnb1	UTSW	4	155,636,146 (GRCm39)	missense	probably benign	0.03
R0325:Gnb1	UTSW	4	155,636,140 (GRCm39)	missense	probably benign	0.21
R1538:Gnb1	UTSW	4	155,636,171 (GRCm39)	missense	probably benign	0.00
R3498:Gnb1	UTSW	4	155,639,483 (GRCm39)	missense	possibly damaging	0.49
R4177:Gnb1	UTSW	4	155,625,113 (GRCm39)	intron	probably benign
R4746:Gnb1	UTSW	4	155,627,531 (GRCm39)	missense	probably damaging	1.00
R4833:Gnb1	UTSW	4	155,627,524 (GRCm39)	missense	possibly damaging	0.57
R5727:Gnb1	UTSW	4	155,639,559 (GRCm39)	missense	probably benign	0.00
R6958:Gnb1	UTSW	4	155,627,651 (GRCm39)	critical splice donor site	probably null
R7022:Gnb1	UTSW	4	155,637,913 (GRCm39)	missense	probably damaging	1.00
R8321:Gnb1	UTSW	4	155,639,482 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGGGCTGAGTTGTTATCTGACAC -3'
(R):5'- GCTCTTGTGCAAGGACAAGG -3'

Sequencing Primer
(F):5'- CTGAGTTGTTATCTGACACTCATG -3'
(R):5'- GCTCCTATCTACATGCCAAGACAGG -3'

Posted On

2022-02-07