Mutagenetix > Incidental Mutation

Incidental Mutation 'R3439:Gnb1l'

267329

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

040657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R3439 (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 18371117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

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: T172A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: T172A

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

SMART Domains

Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884

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
AA Change: T69A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884
AA Change: T69A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151253

Predicted Effect

probably benign
Transcript: ENSMUST00000167778
AA Change: T203A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: T203A

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: ENSMUST00000231621
AA Change: T172A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (30/30)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	C	A	15: 10,381,511 (GRCm39)	P255Q	probably benign	Het
Cdcp3	T	C	7: 130,790,508 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,873,322 (GRCm39)	Y2458H	possibly damaging	Het
Dnhd1	A	G	7: 105,343,992 (GRCm39)	T1779A	probably damaging	Het
Glb1l	A	T	1: 75,179,264 (GRCm39)	C222S	probably damaging	Het
Helq	T	C	5: 100,946,170 (GRCm39)	E57G	probably damaging	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lingo1	T	C	9: 56,528,017 (GRCm39)	T191A	probably benign	Het
Lrrc37a	G	A	11: 103,388,690 (GRCm39)	T2245I	unknown	Het
Med13	T	C	11: 86,176,123 (GRCm39)	D1624G	probably damaging	Het
Mthfsd	A	G	8: 121,825,860 (GRCm39)	V218A	possibly damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nom1	T	C	5: 29,640,615 (GRCm39)	S314P	probably benign	Het
Nwd2	G	A	5: 63,961,895 (GRCm39)	R493H	probably benign	Het
Or4f58	T	C	2: 111,851,792 (GRCm39)	M136V	possibly damaging	Het
Or5an11	A	T	19: 12,245,759 (GRCm39)	H55L	possibly damaging	Het
Palm	C	T	10: 79,652,618 (GRCm39)		probably benign	Het
Pitpnm1	A	G	19: 4,162,752 (GRCm39)	E1115G	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prrc2b	T	C	2: 32,096,359 (GRCm39)	F577L	probably benign	Het
Rnpepl1	A	T	1: 92,844,662 (GRCm39)	T385S	possibly damaging	Het
Serpinb7	A	T	1: 107,356,081 (GRCm39)	I35F	probably damaging	Het
Srbd1	C	T	17: 86,365,187 (GRCm39)	S623N	probably benign	Het
Tchh	A	G	3: 93,354,700 (GRCm39)	E1380G	unknown	Het
Tet2	G	T	3: 133,172,592 (GRCm39)	A1890D	possibly damaging	Het
Tfr2	G	T	5: 137,572,913 (GRCm39)	V215F	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwde	T	A	6: 13,208,374 (GRCm39)	L169F	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
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'- AGGTACTAAGCAGTGGCCCTAG -3'
(R):5'- TGATCGTCCAGACTCCAGACAG -3'

Sequencing Primer
(F):5'- CTAGGAGCCCCATGAGAGG -3'
(R):5'- GCCAGTACCTTCCCAGCAGAG -3'

Posted On

2015-02-18