Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Gnb1l'

35021

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

038493-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R0267 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

18317463-18385429 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 18366839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

SMART Domains

Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884

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

SMART Domains

Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167778

SMART Domains

Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884

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: 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

noncoding transcript
Transcript: ENSMUST00000232235

Predicted Effect

probably benign
Transcript: ENSMUST00000231621

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm39)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,401,238 (GRCm39)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,216,658 (GRCm39)	A342T	probably benign	Het
Adrb1	A	T	19: 56,711,923 (GRCm39)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,562,233 (GRCm39)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,358,551 (GRCm39)		probably benign	Het
Alox15	T	A	11: 70,236,979 (GRCm39)	H393L	probably damaging	Het
Aox1	A	G	1: 58,378,605 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,288 (GRCm39)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,092,379 (GRCm39)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,418,540 (GRCm39)	D737V	probably damaging	Het
C9	T	C	15: 6,496,939 (GRCm39)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,255,107 (GRCm39)		probably benign	Het
Chst1	C	A	2: 92,443,951 (GRCm39)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,475 (GRCm39)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,923,454 (GRCm39)	H113Q	probably benign	Het
Dcn	A	T	10: 97,342,345 (GRCm39)		probably benign	Het
Dmbx1	C	T	4: 115,775,309 (GRCm39)	A324T	probably benign	Het
Dock10	G	T	1: 80,490,171 (GRCm39)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,710,921 (GRCm39)	E443G	probably benign	Het
Espl1	T	C	15: 102,221,452 (GRCm39)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,647,213 (GRCm39)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,432,365 (GRCm39)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 30,770,159 (GRCm39)		probably benign	Het
Gbp2	T	C	3: 142,335,867 (GRCm39)	V189A	probably benign	Het
Gins4	T	C	8: 23,719,426 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,845,319 (GRCm39)	T3A	probably benign	Het
Gtpbp3	T	C	8: 71,944,141 (GRCm39)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,155,455 (GRCm39)	Y331*	probably null	Het
Hsd11b1	A	T	1: 192,923,705 (GRCm39)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,017,701 (GRCm39)	I29T	probably benign	Het
Kctd16	T	A	18: 40,663,930 (GRCm39)	I353N	probably benign	Het
Lama4	G	T	10: 38,904,635 (GRCm39)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,093,040 (GRCm39)	M137L	probably benign	Het
Morc2a	T	C	11: 3,628,567 (GRCm39)	I340T	probably benign	Het
Myo7a	A	C	7: 97,703,831 (GRCm39)	I1969S	probably benign	Het
Or14a258	T	C	7: 86,035,475 (GRCm39)	E131G	possibly damaging	Het
Or5b116	T	A	19: 13,422,792 (GRCm39)	C139S	probably damaging	Het
Or6n1	A	G	1: 173,916,732 (GRCm39)	N42S	probably damaging	Het
Pclo	T	C	5: 14,731,194 (GRCm39)	L3232P	unknown	Het
Polr1a	T	G	6: 71,951,123 (GRCm39)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,656,722 (GRCm39)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,386,066 (GRCm39)	T280A	probably benign	Het
Rfx3	T	C	19: 27,771,188 (GRCm39)	D521G	probably benign	Het
Scn5a	C	T	9: 119,372,201 (GRCm39)	V223I	probably damaging	Het
Sgsm3	T	G	15: 80,890,803 (GRCm39)	M119R	probably damaging	Het
Slc6a7	T	A	18: 61,129,783 (GRCm39)	M608L	probably benign	Het
Slit2	A	G	5: 48,339,673 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,723,561 (GRCm39)	I440F	probably benign	Het
Syn2	T	G	6: 115,231,111 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,361,203 (GRCm39)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,333,426 (GRCm39)		probably benign	Het
Trpm6	C	A	19: 18,800,742 (GRCm39)	P819T	probably benign	Het
Ttn	G	A	2: 76,574,033 (GRCm39)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,459,553 (GRCm39)		probably null	Het
Vars1	T	C	17: 35,230,572 (GRCm39)		probably benign	Het
Vip	A	T	10: 5,594,004 (GRCm39)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps33b	T	C	7: 79,935,802 (GRCm39)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,753,300 (GRCm39)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,297,362 (GRCm39)	S237T	probably benign	Het
Zfp142	G	A	1: 74,615,223 (GRCm39)	A427V	probably benign	Het
Zfp692	T	A	11: 58,205,140 (GRCm39)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,670,322 (GRCm39)	I384N	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
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
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'- TGTAAGGACCCCAGCAGCATCTAAG -3'
(R):5'- ACACGGGCATCTGTAAGGCAAC -3'

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

Posted On

2013-05-09