Mutagenetix > Incidental Mutation

Incidental Mutation 'R3438:Gnb1l'

267295

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

040656-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R3438 (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: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,575,673 (GRCm39)		noncoding transcript	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ampd3	T	C	7: 110,402,433 (GRCm39)	I479T	probably damaging	Het
Aoah	G	A	13: 21,101,242 (GRCm39)	R254K	probably benign	Het
Appbp2	T	C	11: 85,088,966 (GRCm39)	E358G	probably damaging	Het
Col6a5	A	G	9: 105,752,991 (GRCm39)	S2294P	possibly damaging	Het
Cux1	T	C	5: 136,340,414 (GRCm39)	E632G	probably damaging	Het
Cyp7a1	T	C	4: 6,272,769 (GRCm39)	N148S	probably damaging	Het
Dgkz	A	T	2: 91,764,395 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 70,823,356 (GRCm39)	S114C	probably damaging	Het
Dmtn	T	A	14: 70,850,156 (GRCm39)	I263F	probably damaging	Het
Gigyf2	C	A	1: 87,368,302 (GRCm39)	H1029N	probably damaging	Het
Gm10770	T	A	2: 150,021,469 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Lamc1	T	C	1: 153,102,161 (GRCm39)	D1479G	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lhx4	T	A	1: 155,578,230 (GRCm39)	D304V	probably benign	Het
Mybl1	G	T	1: 9,757,870 (GRCm39)	T143K	probably damaging	Het
Notch3	C	T	17: 32,372,564 (GRCm39)	C630Y	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c114	T	C	2: 88,904,707 (GRCm39)	I243V	probably benign	Het
Or8b55	T	G	9: 38,727,512 (GRCm39)	F238V	probably damaging	Het
Or9e1	G	T	11: 58,732,698 (GRCm39)	G253*	probably null	Het
Otoa	A	G	7: 120,759,566 (GRCm39)	E1056G	possibly damaging	Het
Plin4	A	G	17: 56,414,193 (GRCm39)	V144A	probably benign	Het
Sec16b	T	C	1: 157,384,328 (GRCm39)		probably benign	Het
Stk31	A	G	6: 49,414,455 (GRCm39)	S485G	probably benign	Het
Tanc2	C	T	11: 105,748,401 (GRCm39)	P511L	probably damaging	Het
Utrn	T	C	10: 12,357,062 (GRCm39)	D309G	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vsx2	A	T	12: 84,616,985 (GRCm39)	Q90L	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
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'- AGCTCCTCAGGTACTAAGCAGTG -3'
(R):5'- TCCAGACAGCCAGTACCTTC -3'

Sequencing Primer
(F):5'- TACTAAGCAGTGGCCCTAGG -3'
(R):5'- TTCCCAGCAGAGCCAGAGATG -3'

Posted On

2015-02-18