Mutagenetix > Incidental Mutation

Incidental Mutation 'R8321:Gnb1'

641948

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

067723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155575818-155643726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155639482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 237 (N237I)

Ref Sequence

ENSEMBL: ENSMUSP00000030940 (fasta)

Gene Model

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

AlphaFold

P62874

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030940
AA Change: N237I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: N237I

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

possibly damaging
Transcript: ENSMUST00000105616
AA Change: N237I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: N237I

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

possibly damaging
Transcript: ENSMUST00000165335
AA Change: N237I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: N237I

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

possibly damaging
Transcript: ENSMUST00000176637
AA Change: N237I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: N237I

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

possibly damaging
Transcript: ENSMUST00000177094
AA Change: N237I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: N237I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap44	A	G	11: 64,899,053 (GRCm39)	V708A	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Bank1	T	A	3: 135,940,395 (GRCm39)	E329V	possibly damaging	Het
Ccdc162	C	A	10: 41,510,029 (GRCm39)	A859S	probably damaging	Het
Cdh11	T	C	8: 103,361,416 (GRCm39)	R641G	probably damaging	Het
Cfap58	A	G	19: 47,946,586 (GRCm39)	E373G	probably damaging	Het
Chd8	T	C	14: 52,470,024 (GRCm39)	T529A	probably benign	Het
Chtf18	G	A	17: 25,939,865 (GRCm39)	T747I	probably benign	Het
Cyp2j6	A	G	4: 96,441,684 (GRCm39)	L2P	probably benign	Het
Cyp4f18	G	A	8: 72,742,427 (GRCm39)	P518S	possibly damaging	Het
Dmrtc1a	G	A	X: 101,952,221 (GRCm39)	R8W	probably benign	Het
Dpyd	T	C	3: 118,575,573 (GRCm39)	V137A	possibly damaging	Het
Epha6	A	G	16: 59,736,317 (GRCm39)	V739A	probably damaging	Het
Ern2	C	T	7: 121,772,431 (GRCm39)	A676T	probably damaging	Het
Fam20c	A	T	5: 138,743,686 (GRCm39)	I241F	possibly damaging	Het
Fastkd2	A	G	1: 63,787,138 (GRCm39)	H524R	probably benign	Het
Foxq1	T	C	13: 31,743,251 (GRCm39)	Y118H	probably damaging	Het
Gfm1	C	T	3: 67,337,594 (GRCm39)	A8V	probably benign	Het
Gfm2	C	T	13: 97,299,500 (GRCm39)	T407M	possibly damaging	Het
Gldc	G	A	19: 30,120,807 (GRCm39)	Q375*	probably null	Het
Gm5114	A	G	7: 39,060,273 (GRCm39)	I192T	possibly damaging	Het
Herc2	C	T	7: 55,879,096 (GRCm39)	P4662S	possibly damaging	Het
Herc3	C	T	6: 58,820,754 (GRCm39)	S46F	possibly damaging	Het
Hgsnat	C	T	8: 26,461,179 (GRCm39)	G153E	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv2-137	GA	GAA	6: 67,533,154 (GRCm39)		probably null	Het
Invs	T	A	4: 48,283,267 (GRCm39)	D6E	probably benign	Het
Jakmip3	T	C	7: 138,628,613 (GRCm39)	V463A	probably benign	Het
Jarid2	T	A	13: 45,001,862 (GRCm39)	S96R	probably damaging	Het
Krtap6-1	A	C	16: 88,828,624 (GRCm39)	N7H	unknown	Het
Matn4	A	T	2: 164,235,207 (GRCm39)	V455D	probably damaging	Het
Nbea	G	A	3: 56,090,518 (GRCm39)	P47S	possibly damaging	Het
Oit3	T	C	10: 59,263,982 (GRCm39)	H384R	probably benign	Het
Or1e27-ps1	G	A	11: 73,556,362 (GRCm39)	R309H	unknown	Het
Or8b42	A	T	9: 38,341,850 (GRCm39)	I91F	probably damaging	Het
Pabpc4l	T	A	3: 46,400,729 (GRCm39)	D305V	probably damaging	Het
Papln	G	A	12: 83,821,715 (GRCm39)	W314*	probably null	Het
Pask	G	A	1: 93,248,377 (GRCm39)	R975C	possibly damaging	Het
Pate13	G	T	9: 35,820,749 (GRCm39)	C111F	probably damaging	Het
Plce1	A	G	19: 38,640,380 (GRCm39)	N542S	probably benign	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Sez6l2	C	A	7: 126,557,588 (GRCm39)	T334N	probably damaging	Het
Sh3d19	A	G	3: 86,001,071 (GRCm39)	T256A	probably damaging	Het
Slit2	A	T	5: 48,387,609 (GRCm39)	N545Y	probably damaging	Het
Sprtn	A	T	8: 125,629,994 (GRCm39)	D429V	possibly damaging	Het
Srcap	T	C	7: 127,140,068 (GRCm39)	V1389A	probably damaging	Het
Tecta	C	A	9: 42,284,349 (GRCm39)	C912F	probably damaging	Het
Tns1	T	A	1: 74,024,939 (GRCm39)		probably null	Het
Tprg1l	A	G	4: 154,244,860 (GRCm39)	V76A	probably benign	Het
Trav12-2	G	T	14: 53,853,840 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,881,412 (GRCm39)	D612G	possibly damaging	Het
Usp6nl	A	T	2: 6,395,900 (GRCm39)	Q36H	possibly damaging	Het
Vps9d1	A	T	8: 123,975,544 (GRCm39)	M167K	possibly damaging	Het
Zfhx4	T	A	3: 5,466,187 (GRCm39)	L2140Q	probably damaging	Het
Zfp512b	A	G	2: 181,228,931 (GRCm39)	V678A	possibly damaging	Het
Zfp800	A	G	6: 28,242,992 (GRCm39)	S658P	probably damaging	Het
Zscan22	A	G	7: 12,637,625 (GRCm39)	S6G	probably benign	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
R9217:Gnb1	UTSW	4	155,625,033 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTTGAATTCACTATGTGCCTG -3'
(R):5'- CAGCTTTGAGTGCATCCCAGAC -3'

Sequencing Primer
(F):5'- CTGAAGGCTGTGTACTCTATTCCATG -3'
(R):5'- GAGTGCATCCCAGACATTACAGTTG -3'

Posted On

2020-07-28