Incidental Mutation 'IGL02470:Gnb1'
ID294707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb1
Ensembl Gene ENSMUSG00000029064
Gene Nameguanine nucleotide binding protein (G protein), beta 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02470
Quality Score
Status
Chromosome4
Chromosomal Location155491361-155559269 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 155527513 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030940] [ENSMUST00000105616] [ENSMUST00000165335] [ENSMUST00000176411] [ENSMUST00000176637] [ENSMUST00000177094]
Predicted Effect probably benign
Transcript: ENSMUST00000030940
SMART Domains Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
WD40 86 125 1.06e-3 SMART
WD40 132 170 1.93e-6 SMART
WD40 173 212 1.23e-8 SMART
WD40 215 254 5.06e-10 SMART
WD40 257 298 1.88e-4 SMART
WD40 301 340 3.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105616
SMART Domains Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
WD40 86 125 1.06e-3 SMART
WD40 132 170 1.93e-6 SMART
WD40 173 212 1.23e-8 SMART
WD40 215 254 5.06e-10 SMART
WD40 257 298 1.88e-4 SMART
WD40 301 340 3.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165335
SMART Domains Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
WD40 86 125 1.06e-3 SMART
WD40 132 170 1.93e-6 SMART
WD40 173 212 1.23e-8 SMART
WD40 215 254 5.06e-10 SMART
WD40 257 298 1.88e-4 SMART
WD40 301 340 3.55e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175688
Predicted Effect probably benign
Transcript: ENSMUST00000176411
SMART Domains Protein: ENSMUSP00000135769
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
Blast:WD40 86 108 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176637
SMART Domains Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
WD40 86 125 1.06e-3 SMART
WD40 132 170 1.93e-6 SMART
WD40 173 212 1.23e-8 SMART
WD40 215 254 5.06e-10 SMART
WD40 257 298 1.88e-4 SMART
WD40 301 340 3.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177094
SMART Domains Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064

DomainStartEndE-ValueType
WD40 44 83 1.05e-7 SMART
WD40 86 125 1.06e-3 SMART
WD40 132 170 1.93e-6 SMART
WD40 173 212 1.23e-8 SMART
WD40 215 254 5.06e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Ccdc148 A T 2: 59,001,899 S235T probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Gnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Gnb1 APN 4 155543188 missense probably damaging 1.00
IGL02052:Gnb1 APN 4 155533691 splice site probably benign
IGL02164:Gnb1 APN 4 155557174 unclassified probably null
IGL02928:Gnb1 APN 4 155553406 missense probably benign
IGL03293:Gnb1 APN 4 155540547 splice site probably benign
R0034:Gnb1 UTSW 4 155551689 missense probably benign 0.03
R0325:Gnb1 UTSW 4 155551683 missense probably benign 0.21
R1538:Gnb1 UTSW 4 155551714 missense probably benign 0.00
R3498:Gnb1 UTSW 4 155555026 missense possibly damaging 0.49
R4177:Gnb1 UTSW 4 155540656 intron probably benign
R4746:Gnb1 UTSW 4 155543074 missense probably damaging 1.00
R4833:Gnb1 UTSW 4 155543067 missense possibly damaging 0.57
R5727:Gnb1 UTSW 4 155555102 missense probably benign 0.00
R6958:Gnb1 UTSW 4 155543194 critical splice donor site probably null
R7022:Gnb1 UTSW 4 155553456 missense probably damaging 1.00
Posted On2015-04-16