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, Wdr14, Wdvcf, Me49f07

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R4776 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

18317463-18385429 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 18366846 bp (GRCm39)

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] [ENSMUST00000149035] [ENSMUST00000167778] [ENSMUST00000147739] [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 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

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: ENSMUST00000151253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232235

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: 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
2610028H24Rik	A	T	10: 76,293,346 (GRCm39)	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,421,644 (GRCm39)	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,884,739 (GRCm39)	I373T	probably benign	Het
Amotl1	G	A	9: 14,504,669 (GRCm39)	Q217*	probably null	Het
Ankrd28	A	T	14: 31,454,011 (GRCm39)	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,550,970 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,529,995 (GRCm39)	S245T	probably benign	Het
Atp1b2	A	T	11: 69,492,387 (GRCm39)	D224E	probably damaging	Het
Bmal1	A	T	7: 112,884,244 (GRCm39)	K94I	probably damaging	Het
Boc	G	A	16: 44,308,084 (GRCm39)	R924W	probably damaging	Het
Btbd8	C	A	5: 107,658,317 (GRCm39)	A1117E	probably damaging	Het
Car14	C	T	3: 95,806,185 (GRCm39)	G292D	probably benign	Het
Cenpb	T	C	2: 131,020,103 (GRCm39)		probably benign	Het
Ces1b	A	T	8: 93,789,658 (GRCm39)	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,808,556 (GRCm39)	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 99,655,748 (GRCm39)		probably benign	Het
Cic	T	G	7: 24,982,308 (GRCm39)	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,336,685 (GRCm39)	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452 (GRCm39)	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,658,705 (GRCm39)	D1779V	probably damaging	Het
Dock9	G	T	14: 121,847,509 (GRCm39)	H1016N	possibly damaging	Het
Dxo	T	C	17: 35,057,974 (GRCm39)	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,318,983 (GRCm39)	F78I	probably damaging	Het
Eri2	A	G	7: 119,384,169 (GRCm39)		probably benign	Het
Fbxw7	T	G	3: 84,832,996 (GRCm39)	L13V	possibly damaging	Het
Fgf7	T	A	2: 125,877,703 (GRCm39)	C23*	probably null	Het
Fubp1	T	A	3: 151,927,705 (GRCm39)		probably null	Het
Gm2663	A	T	6: 40,972,887 (GRCm39)	I240N	probably damaging	Het
Gnptab	G	A	10: 88,272,390 (GRCm39)	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,472,302 (GRCm39)	W544*	probably null	Het
Gucy2c	C	T	6: 136,699,512 (GRCm39)	E586K	probably damaging	Het
Hc	T	A	2: 34,929,746 (GRCm39)	E232V	probably benign	Het
Ifi207	T	A	1: 173,557,622 (GRCm39)	D372V	unknown	Het
Igkv8-28	A	T	6: 70,121,102 (GRCm39)	V15E	probably benign	Het
Il1rap	A	G	16: 26,511,549 (GRCm39)	S198G	possibly damaging	Het
Lct	A	G	1: 128,228,124 (GRCm39)	I1123T	probably damaging	Het
Lhcgr	T	C	17: 89,050,125 (GRCm39)	E467G	probably damaging	Het
Macf1	C	T	4: 123,369,808 (GRCm39)	R86K	probably benign	Het
Maml3	T	A	3: 51,763,953 (GRCm39)	Q337L	probably benign	Het
Marchf10	T	A	11: 105,280,863 (GRCm39)	D474V	probably benign	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mast1	A	G	8: 85,663,822 (GRCm39)		probably null	Het
Med12l	T	C	3: 59,140,633 (GRCm39)	I868T	probably damaging	Het
Msrb1	T	C	17: 24,959,147 (GRCm39)	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,069,125 (GRCm39)	L342P	probably benign	Het
Nrxn3	T	A	12: 90,298,730 (GRCm39)	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,842,029 (GRCm39)	D248V	probably damaging	Het
Oaz3	T	C	3: 94,342,305 (GRCm39)	Q117R	probably benign	Het
Or2a56	A	G	6: 42,932,455 (GRCm39)	I8V	probably benign	Het
Or4f58	A	G	2: 111,851,276 (GRCm39)	Y308H	probably benign	Het
Or52e2	A	G	7: 102,804,621 (GRCm39)	L111P	probably benign	Het
Osbpl3	A	C	6: 50,277,953 (GRCm39)	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,576,697 (GRCm39)		probably benign	Het
Pard6b	A	G	2: 167,940,708 (GRCm39)	T232A	probably damaging	Het
Paxip1	A	T	5: 27,970,204 (GRCm39)	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,573,818 (GRCm39)	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932 (GRCm38)		probably benign	Het
Relch	T	A	1: 105,647,260 (GRCm39)	Y683*	probably null	Het
Rock2	T	A	12: 17,027,741 (GRCm39)	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sel1l	T	A	12: 91,780,667 (GRCm39)	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,990,313 (GRCm39)	L105Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,171,501 (GRCm39)	K227E	probably benign	Het
Slc25a34	A	T	4: 141,350,899 (GRCm39)	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,232,918 (GRCm39)	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,075,808 (GRCm39)	D731V	probably null	Het
Sox6	T	G	7: 115,140,905 (GRCm39)	K483N	probably damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,628,256 (GRCm39)	D882E	probably benign	Het
Syne4	T	C	7: 30,016,258 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,620,391 (GRCm39)	F2170S	probably damaging	Het
Tec	T	C	5: 72,926,119 (GRCm39)	Y289C	probably benign	Het
Tmem102	A	T	11: 69,695,628 (GRCm39)	Y115N	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trav17	T	A	14: 54,044,097 (GRCm39)	M1K	probably null	Het
Trdn	T	A	10: 33,275,078 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,477,747 (GRCm39)	I8F	probably benign	Het
Ttn	T	A	2: 76,585,006 (GRCm39)	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,837,836 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,936,813 (GRCm39)		probably null	Het
Upp1	T	C	11: 9,085,976 (GRCm39)	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,296,082 (GRCm39)	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,817,770 (GRCm39)	G449D	probably damaging	Het
Vps37b	T	C	5: 124,144,675 (GRCm39)	K165E	probably damaging	Het
Vwf	A	T	6: 125,543,268 (GRCm39)	I185F	possibly damaging	Het
Wasf2	A	G	4: 132,912,315 (GRCm39)	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,793,952 (GRCm39)	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,981,623 (GRCm39)	S57P	probably benign	Het
Zxdc	A	G	6: 90,347,500 (GRCm39)	H287R	probably damaging	Het

Other mutations in Gnb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Gnb1l	APN	16	18,362,950 (GRCm39)	missense	probably damaging	1.00
IGL02860:Gnb1l	APN	16	18,371,285 (GRCm39)	missense	probably damaging	0.99
IGL03155:Gnb1l	APN	16	18,359,282 (GRCm39)	splice site	probably null
IGL03169:Gnb1l	APN	16	18,359,205 (GRCm39)	missense	probably damaging	1.00
R0017:Gnb1l	UTSW	16	18,359,810 (GRCm39)	missense	probably damaging	1.00
R0267:Gnb1l	UTSW	16	18,366,839 (GRCm39)	splice site	probably benign
R0365:Gnb1l	UTSW	16	18,371,211 (GRCm39)	missense	possibly damaging	0.95
R0845:Gnb1l	UTSW	16	18,371,223 (GRCm39)	missense	probably benign	0.01
R2975:Gnb1l	UTSW	16	18,383,016 (GRCm39)	missense	probably damaging	1.00
R3438:Gnb1l	UTSW	16	18,371,117 (GRCm39)	missense	probably benign	0.01
R3439:Gnb1l	UTSW	16	18,371,117 (GRCm39)	missense	probably benign	0.01
R4650:Gnb1l	UTSW	16	18,363,025 (GRCm39)	critical splice donor site	probably null
R7135:Gnb1l	UTSW	16	18,363,918 (GRCm39)	missense	probably benign	0.05
R7290:Gnb1l	UTSW	16	18,382,806 (GRCm39)	missense	probably benign	0.37
R7488:Gnb1l	UTSW	16	18,359,220 (GRCm39)	missense	possibly damaging	0.90
R8195:Gnb1l	UTSW	16	18,362,965 (GRCm39)	missense	probably benign	0.44
R9074:Gnb1l	UTSW	16	18,359,745 (GRCm39)	missense	probably damaging	1.00
R9457:Gnb1l	UTSW	16	18,359,745 (GRCm39)	missense	probably damaging	1.00
R9593:Gnb1l	UTSW	16	18,362,914 (GRCm39)	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