Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Gnb1'

64577

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0034 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

155575818-155643726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155636146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 155 (N155K)

Ref Sequence

ENSEMBL: ENSMUSP00000135091 (fasta)

Gene Model

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

AlphaFold

P62874

Predicted Effect

probably benign
Transcript: ENSMUST00000030940
AA Change: N155K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: N155K

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: N155K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: N155K

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: N155K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: N155K

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: ENSMUST00000175705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176308

Predicted Effect

probably benign
Transcript: ENSMUST00000176637
AA Change: N155K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: N155K

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: ENSMUST00000177094
AA Change: N155K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: N155K

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

0.0733

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

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
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Angpt4	C	T	2: 151,771,311 (GRCm39)	T209I	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cep152	C	T	2: 125,425,813 (GRCm39)	A851T	probably benign	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,438,933 (GRCm39)	M381I	probably benign	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Haspin	G	A	11: 73,029,044 (GRCm39)	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Kifc2	G	T	15: 76,551,300 (GRCm39)	C613F	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	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
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
R9217:Gnb1	UTSW	4	155,625,033 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGTTCCCAAGGCATAGCTCACTG -3'
(R):5'- CTGACAGAGCTGCTGTTTGAAAGC -3'

Sequencing Primer
(F):5'- GTCCGTGTGAATCATGAACC -3'
(R):5'- CCACAGATGATGCAATGAGTTAC -3'

Posted On

2013-08-06