Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01382:Gnb1l'

78916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnb1l

Ensembl Gene

ENSMUSG00000000884

Gene Name

guanine nucleotide binding protein (G protein), beta polypeptide 1-like

Synonyms

ESTM55, Wdr14, Wdvcf, Me49f07

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

IGL01382

Quality Score

Status

Chromosome

Chromosomal Location

18317463-18385429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18362950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 11 (F11S)

Ref Sequence

ENSEMBL: ENSMUSP00000114875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000904] [ENSMUST00000090086] [ENSMUST00000115600] [ENSMUST00000115601] [ENSMUST00000139625] [ENSMUST00000167778] [ENSMUST00000149035] [ENSMUST00000147739] [ENSMUST00000231621]

AlphaFold

Q9EQ15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000904
AA Change: S113P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000904
Gene: ENSMUSG00000000884
AA Change: S113P

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

possibly damaging
Transcript: ENSMUST00000090086
AA Change: F114S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: F114S

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

possibly damaging
Transcript: ENSMUST00000115600
AA Change: F114S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884
AA Change: F114S

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 damaging
Transcript: ENSMUST00000115601
AA Change: F114S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: F114S

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 damaging
Transcript: ENSMUST00000139625
AA Change: F11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884
AA Change: F11S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167778
AA Change: S113P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: S113P

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 damaging
Transcript: ENSMUST00000149035
AA Change: F11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884
AA Change: F11S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147739
AA Change: F114S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123200
Gene: ENSMUSG00000000884
AA Change: F114S

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: ENSMUST00000151253

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231621
AA Change: F114S

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232235

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	G	T	5: 142,458,006 (GRCm39)	R393L	probably benign	Het
Arhgap21	G	T	2: 20,860,511 (GRCm39)	P1128T	probably damaging	Het
Atp12a	T	G	14: 56,617,412 (GRCm39)	C567W	probably damaging	Het
Bcat2	C	A	7: 45,237,684 (GRCm39)	R312S	probably damaging	Het
Cacna1g	T	A	11: 94,356,684 (GRCm39)	T151S	probably damaging	Het
Chid1	G	A	7: 141,110,166 (GRCm39)	T53M	probably damaging	Het
Dis3l2	A	G	1: 86,784,925 (GRCm39)	D272G	probably benign	Het
Entrep3	T	C	3: 89,095,733 (GRCm39)	S596P	probably damaging	Het
Ephx4	A	G	5: 107,577,585 (GRCm39)	E303G	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Gm9843	A	T	16: 76,200,460 (GRCm39)		noncoding transcript	Het
Ipmk	C	T	10: 71,212,596 (GRCm39)	T186M	probably damaging	Het
Jph1	T	C	1: 17,086,380 (GRCm39)	T381A	probably damaging	Het
Kbtbd8	T	A	6: 95,099,211 (GRCm39)	I163K	probably damaging	Het
Kif18a	T	A	2: 109,127,111 (GRCm39)	Y348*	probably null	Het
Lrrc37a	T	A	11: 103,389,581 (GRCm39)	D1948V	probably damaging	Het
Mc4r	A	G	18: 66,992,864 (GRCm39)	I83T	probably damaging	Het
Myh8	A	T	11: 67,192,799 (GRCm39)	E1530V	probably damaging	Het
Naip6	C	T	13: 100,436,364 (GRCm39)	E720K	possibly damaging	Het
Ncor2	T	A	5: 125,132,837 (GRCm39)	Q50L	probably damaging	Het
Or5p70	G	A	7: 107,994,452 (GRCm39)	V42M	probably benign	Het
Or9s15	A	G	1: 92,524,922 (GRCm39)	Y227C	possibly damaging	Het
Plxnd1	A	T	6: 115,937,488 (GRCm39)	M1575K	probably damaging	Het
Ptprg	T	G	14: 12,237,797 (GRCm38)	M643R	probably benign	Het
Reck	T	A	4: 43,940,662 (GRCm39)	C824S	probably damaging	Het
Rpgrip1	C	T	14: 52,382,934 (GRCm39)	T689I	possibly damaging	Het
Ruvbl2	A	T	7: 45,072,161 (GRCm39)	S358T	probably benign	Het
Sec14l3	G	T	11: 4,018,104 (GRCm39)	C128F	probably damaging	Het
Serpinf2	C	T	11: 75,328,863 (GRCm39)		probably benign	Het
Sez6l	C	T	5: 112,573,487 (GRCm39)	V842I	probably benign	Het
Tm6sf2	A	G	8: 70,531,018 (GRCm39)	Y257C	probably damaging	Het
Tmpo	T	C	10: 91,001,912 (GRCm39)	D99G	probably damaging	Het
Tulp3	A	C	6: 128,302,033 (GRCm39)	N329K	probably damaging	Het
Vmn1r7	T	A	6: 57,001,708 (GRCm39)	D184V	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vmn2r93	T	A	17: 18,533,578 (GRCm39)	L494*	probably null	Het
Wdr18	T	C	10: 79,801,106 (GRCm39)	L173P	probably damaging	Het
Zfp663	T	A	2: 165,200,935 (GRCm39)	Y33F	probably damaging	Het
Zmiz2	T	A	11: 6,353,781 (GRCm39)		probably null	Het

Other mutations in Gnb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05