Mutagenetix > Incidental Mutation

Incidental Mutation 'R0845:Gnb1l'

77344

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

039024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R0845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18317463-18385429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18371223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 238 (E238G)

Ref Sequence

ENSEMBL: ENSMUSP00000130371 (fasta)

Gene Model

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

AlphaFold

Q9EQ15

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000090086
AA Change: E207G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: E207G

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 benign
Transcript: ENSMUST00000115600

SMART Domains

Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884

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 benign
Transcript: ENSMUST00000115601
AA Change: E193G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: E193G

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 benign
Transcript: ENSMUST00000139625

SMART Domains

Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167778
AA Change: E238G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: E238G

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

probably benign
Transcript: ENSMUST00000231621
AA Change: E207G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232235

Predicted Effect

probably benign
Transcript: ENSMUST00000149035

SMART Domains

Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884

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

Meta Mutation Damage Score

0.2171

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 93.2%

Validation Efficiency

96% (45/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	G	T	7: 28,612,855 (GRCm39)	A116E	probably damaging	Het
Adamtsl3	A	G	7: 82,225,204 (GRCm39)	I338V	probably damaging	Het
Akap13	T	G	7: 75,375,128 (GRCm39)	V1920G	probably damaging	Het
Atp6v0d2	C	T	4: 19,880,055 (GRCm39)	V281I	probably benign	Het
AW209491	T	G	13: 14,811,607 (GRCm39)	S153R	probably damaging	Het
Brd7	A	T	8: 89,069,395 (GRCm39)	Y433*	probably null	Het
Bub1b	A	G	2: 118,440,457 (GRCm39)	H187R	probably damaging	Het
Clstn2	T	A	9: 97,452,681 (GRCm39)	Q242L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Comt	T	C	16: 18,226,711 (GRCm39)	Y225C	probably damaging	Het
Ctbs	T	A	3: 146,160,862 (GRCm39)	L143Q	probably damaging	Het
Ctsw	T	C	19: 5,515,489 (GRCm39)		probably benign	Het
Dhx16	T	C	17: 36,194,194 (GRCm39)	I435T	probably damaging	Het
Dmxl1	T	C	18: 50,026,469 (GRCm39)	F1859S	probably damaging	Het
Glud1	A	G	14: 34,051,351 (GRCm39)		probably benign	Het
Gm8220	A	G	14: 44,524,248 (GRCm39)	H71R	probably damaging	Het
H2-T23	T	C	17: 36,341,475 (GRCm39)	H332R	probably benign	Het
Itga5	T	A	15: 103,259,196 (GRCm39)	T744S	probably benign	Het
Larp1	A	G	11: 57,938,576 (GRCm39)	E453G	probably benign	Het
Lrrk2	C	A	15: 91,640,165 (GRCm39)	P1570Q	probably benign	Het
Lrsam1	C	T	2: 32,843,455 (GRCm39)	R150Q	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Msln	T	C	17: 25,969,770 (GRCm39)	Y320C	probably damaging	Het
Mtbp	T	C	15: 55,426,486 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,404,183 (GRCm39)		probably null	Het
Mup21	A	G	4: 62,068,547 (GRCm39)	S40P	probably damaging	Het
Myh8	T	C	11: 67,177,090 (GRCm39)	V414A	probably damaging	Het
P2rx5	T	C	11: 73,056,400 (GRCm39)	I108T	probably damaging	Het
Paqr9	T	C	9: 95,442,793 (GRCm39)	L261P	probably damaging	Het
Pde5a	A	G	3: 122,522,980 (GRCm39)	D29G	probably benign	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Pih1d1	A	G	7: 44,809,106 (GRCm39)	D230G	probably benign	Het
Pik3r1	G	T	13: 101,822,772 (GRCm39)	D643E	probably benign	Het
Rnf207	A	G	4: 152,396,521 (GRCm39)		probably benign	Het
Septin9	T	C	11: 117,247,151 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,401,479 (GRCm39)	S105T	probably benign	Het
Slc8a1	A	G	17: 81,745,177 (GRCm39)	S676P	probably benign	Het
Srrm4	C	T	5: 116,582,944 (GRCm39)		probably null	Het
Tcn2	T	A	11: 3,869,349 (GRCm39)	D391V	probably benign	Het
Tmem131	T	C	1: 36,855,303 (GRCm39)	T808A	probably damaging	Het
Ubqln3	G	T	7: 103,791,275 (GRCm39)	Q272K	probably damaging	Het
Unc79	T	C	12: 103,139,703 (GRCm39)		probably benign	Het
Xpo6	G	A	7: 125,728,715 (GRCm39)		probably benign	Het
Zfp667	A	T	7: 6,309,091 (GRCm39)	K586N	possibly 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
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
R4776:Gnb1l	UTSW	16	18,366,846 (GRCm39)	nonsense	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'- AGACAAGACCCTTTGGGAGCCAAC -3'
(R):5'- ACCATGTGAATGGCAAGCCCAC -3'

Sequencing Primer
(F):5'- TTTGGGAGCCAACCACTGTG -3'
(R):5'- GCCTAAATATTGTTTCAGCCTATCAG -3'

Posted On

2013-10-16