Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Gnb1l'

367969

Institutional Source

Beutler Lab

Gene Symbol

Gnb1l

Ensembl Gene

ENSMUSG00000000884

Gene Name

guanine nucleotide binding protein (G protein), beta polypeptide 1-like

Synonyms

ESTM55, Wdvcf, Wdr14, Me49f07

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R4776 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

18498713-18566679 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 18548096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 140 (Q140*)

Ref Sequence

ENSEMBL: ENSMUSP00000156162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000904] [ENSMUST00000090086] [ENSMUST00000115600] [ENSMUST00000115601] [ENSMUST00000139625] [ENSMUST00000147739] [ENSMUST00000149035] [ENSMUST00000167778] [ENSMUST00000231621]

AlphaFold

Q9EQ15

Predicted Effect

silent
Transcript: ENSMUST00000000904

SMART Domains

Protein: ENSMUSP00000000904
Gene: ENSMUSG00000000884

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART
Blast:WD40	112	143	1e-9	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000090086
AA Change: Q140*

SMART Domains

Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: Q140*

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART
WD40	146	193	9.17e1	SMART
WD40	196	235	4.79e-1	SMART
WD40	238	280	4.79e-1	SMART
WD40	283	321	6.04e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115600
AA Change: Q140*

SMART Domains

Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884
AA Change: Q140*

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART
Blast:WD40	136	188	3e-16	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000115601
AA Change: Q140*

SMART Domains

Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: Q140*

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART
Blast:WD40	138	179	1e-16	BLAST
WD40	182	221	4.79e-1	SMART
WD40	224	266	4.79e-1	SMART
WD40	269	307	6.04e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129952

Predicted Effect

probably null
Transcript: ENSMUST00000139625
AA Change: Q37*

SMART Domains

Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884
AA Change: Q37*

Domain	Start	End	E-Value	Type
Blast:WD40	35	75	2e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000147739

SMART Domains

Protein: ENSMUSP00000123200
Gene: ENSMUSG00000000884

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000149035
AA Change: Q37*

SMART Domains

Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884
AA Change: Q37*

Domain	Start	End	E-Value	Type
Blast:WD40	35	76	8e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151253

Predicted Effect

probably null
Transcript: ENSMUST00000167778
AA Change: Q171*

SMART Domains

Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: Q171*

Domain	Start	End	E-Value	Type
WD40	8	52	1.12e-2	SMART
WD40	55	95	1.36e-1	SMART
WD40	146	193	9.17e1	SMART
WD40	196	235	4.79e-1	SMART
WD40	238	280	4.79e-1	SMART
WD40	283	321	6.04e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232235

Predicted Effect

probably null
Transcript: ENSMUST00000231621
AA Change: Q140*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit significantly reduced prepulse inhibition. Homozygotes die during early gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,535	Y683*	probably null	Het
2610028H24Rik	A	T	10: 76,457,512	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546		probably benign	Het
Arfgef3	A	T	10: 18,654,247	S245T	probably benign	Het
Arntl	A	T	7: 113,285,037	K94I	probably damaging	Het
Atp1b2	A	T	11: 69,601,561	D224E	probably damaging	Het
Boc	G	A	16: 44,487,721	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183		probably benign	Het
Ces1b	A	T	8: 93,063,030	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541		probably benign	Het
Cic	T	G	7: 25,282,883	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946		probably benign	Het
Fam208b	A	G	13: 3,570,391	F2170S	probably damaging	Het
Fbxw7	T	G	3: 84,925,689	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068		probably null	Het
Gm2663	A	T	6: 40,995,953	I240N	probably damaging	Het
Gnptab	G	A	10: 88,436,528	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734	E232V	probably benign	Het
Ifi207	T	A	1: 173,730,056	D372V	unknown	Het
Igkv8-28	A	T	6: 70,144,118	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532	Q337L	probably benign	Het
March10	T	A	11: 105,390,037	D474V	probably benign	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193		probably null	Het
Med12l	T	C	3: 59,233,212	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126	L342P	probably benign	Het
Nrxn3	T	A	12: 90,331,956	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,934,713	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998	Q117R	probably benign	Het
Olfr1311	A	G	2: 112,020,931	Y308H	probably benign	Het
Olfr444	A	G	6: 42,955,521	I8V	probably benign	Het
Olfr589	A	G	7: 103,155,414	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871		probably benign	Het
Pard6b	A	G	2: 168,098,788	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932		probably benign	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824	D731V	probably null	Het
Sox6	T	G	7: 115,541,670	K483N	probably damaging	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,792,351	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833		probably benign	Het
Tec	T	C	5: 72,768,776	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640	M1K	probably null	Het
Trdn	T	A	10: 33,399,082		probably null	Het
Trp53	A	T	11: 69,586,921	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838		probably null	Het
Ulk1	C	T	5: 110,788,947		probably null	Het
Upp1	T	C	11: 9,135,976	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,388,661	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518	H287R	probably damaging	Het

Other mutations in Gnb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Gnb1l	APN	16	18544200	missense	probably damaging	1.00
IGL02860:Gnb1l	APN	16	18552535	missense	probably damaging	0.99
IGL03155:Gnb1l	APN	16	18540532	splice site	probably null
IGL03169:Gnb1l	APN	16	18540455	missense	probably damaging	1.00
R0017:Gnb1l	UTSW	16	18541060	missense	probably damaging	1.00
R0267:Gnb1l	UTSW	16	18548089	splice site	probably benign
R0365:Gnb1l	UTSW	16	18552461	missense	possibly damaging	0.95
R0845:Gnb1l	UTSW	16	18552473	missense	probably benign	0.01
R2975:Gnb1l	UTSW	16	18564266	missense	probably damaging	1.00
R3438:Gnb1l	UTSW	16	18552367	missense	probably benign	0.01
R3439:Gnb1l	UTSW	16	18552367	missense	probably benign	0.01
R4650:Gnb1l	UTSW	16	18544275	critical splice donor site	probably null
R7135:Gnb1l	UTSW	16	18545168	missense	probably benign	0.05
R7290:Gnb1l	UTSW	16	18564056	missense	probably benign	0.37
R7488:Gnb1l	UTSW	16	18540470	missense	possibly damaging	0.90
R8195:Gnb1l	UTSW	16	18544215	missense	probably benign	0.44
R9074:Gnb1l	UTSW	16	18540995	missense	probably damaging	1.00
R9457:Gnb1l	UTSW	16	18540995	missense	probably damaging	1.00
R9593:Gnb1l	UTSW	16	18544164	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- TTGTTTTGTAAGGACCCCAGCAG -3'
(R):5'- TGGTCTCTAAGGGACAGTGC -3'

Sequencing Primer
(F):5'- CAGCAGCATCTAAGCTCTCTAG -3'
(R):5'- TCTCTAAGGGACAGTGCCCATAG -3'

Posted On

2015-12-29