Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Gnb1'

372976

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

042449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155575818-155643726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155627524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 102 (T102A)

Ref Sequence

ENSEMBL: ENSMUSP00000135492 (fasta)

Gene Model

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

AlphaFold

P62874

Predicted Effect

probably benign
Transcript: ENSMUST00000030940
AA Change: T102A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: T102A

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 benign
Transcript: ENSMUST00000105616
AA Change: T102A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: T102A

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 benign
Transcript: ENSMUST00000165335
AA Change: T102A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: T102A

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 benign
Transcript: ENSMUST00000176411
AA Change: T102A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135769
Gene: ENSMUSG00000029064
AA Change: T102A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176637
AA Change: T102A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: T102A

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: T102A

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: T102A

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

0.1726

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,872 (GRCm39)	T153K	possibly damaging	Het
Abca5	A	C	11: 110,170,142 (GRCm39)	Y1318D	probably benign	Het
Adam18	A	G	8: 25,164,117 (GRCm39)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,708,963 (GRCm39)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,032,296 (GRCm39)		probably null	Het
Bdkrb2	T	C	12: 105,557,917 (GRCm39)	W53R	probably benign	Het
Blm	T	A	7: 80,116,574 (GRCm39)	I1111L	probably benign	Het
Bltp1	A	G	3: 37,019,117 (GRCm39)	I2007V	probably damaging	Het
Bmp3	T	G	5: 99,003,066 (GRCm39)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,220,817 (GRCm39)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,486,183 (GRCm39)	T560M	probably benign	Het
Cimap1a	T	C	7: 140,428,191 (GRCm39)	M1T	probably null	Het
Cmtm8	C	A	9: 114,625,233 (GRCm39)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm39)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,507,323 (GRCm39)	V252E	unknown	Het
Col6a4	A	T	9: 105,949,178 (GRCm39)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm39)	S372P	probably benign	Het
Daam2	A	T	17: 49,797,173 (GRCm39)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,755,576 (GRCm39)	D216G	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,364,636 (GRCm39)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 33,380,505 (GRCm39)		noncoding transcript	Het
Hcfc2	C	T	10: 82,544,980 (GRCm39)	A204V	probably null	Het
Hnrnpu	T	C	1: 178,161,459 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,009,569 (GRCm39)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,775,889 (GRCm39)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,551,572 (GRCm39)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Lipt1	T	G	1: 37,914,610 (GRCm39)	L222R	probably damaging	Het
Lrrc41	A	G	4: 115,950,374 (GRCm39)		probably benign	Het
Lrrc59	T	C	11: 94,525,498 (GRCm39)	V98A	probably benign	Het
Mast4	A	G	13: 102,910,692 (GRCm39)		probably null	Het
Mdc1	C	T	17: 36,161,286 (GRCm39)	S733F	probably benign	Het
Mknk1	C	T	4: 115,735,383 (GRCm39)		probably benign	Het
Mtmr7	A	G	8: 41,043,505 (GRCm39)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,778,428 (GRCm39)	D1G	possibly damaging	Het
Or7c70	T	G	10: 78,683,409 (GRCm39)	L113F	probably damaging	Het
Phkb	T	A	8: 86,628,540 (GRCm39)	V183E	probably damaging	Het
Pola2	T	C	19: 6,003,892 (GRCm39)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,778,552 (GRCm39)	V412I	probably benign	Het
Psmc4	C	A	7: 27,746,937 (GRCm39)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,578,586 (GRCm39)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,355,311 (GRCm39)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,781,859 (GRCm39)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,253,399 (GRCm39)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,399,310 (GRCm39)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Slfn14	A	G	11: 83,169,982 (GRCm39)	L554P	probably damaging	Het
Spink2	G	T	5: 77,353,239 (GRCm39)	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Taar8b	A	T	10: 23,968,030 (GRCm39)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,968,918 (GRCm39)	E35G	probably benign	Het
Tmc5	C	A	7: 118,228,052 (GRCm39)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem72	T	C	6: 116,675,319 (GRCm39)	T58A	probably benign	Het
Ttc7	C	T	17: 87,641,749 (GRCm39)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,868,722 (GRCm39)	E449G	probably benign	Het
Ubr4	C	A	4: 139,129,857 (GRCm39)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,704,372 (GRCm39)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,129,878 (GRCm39)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,007,811 (GRCm39)	H247L	probably damaging	Het
Zfp526	C	T	7: 24,925,295 (GRCm39)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,296,992 (GRCm39)	H47Q	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
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
R9217:Gnb1	UTSW	4	155,625,033 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATCACACCTATCTACTCATTAGGG -3'
(R):5'- CCCAGTTAGCAGCTTACACC -3'

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

Posted On

2016-03-01