Incidental Mutation 'IGL03293:Gnb1'
ID415992
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 #IGL03293
Quality Score
Status
Chromosome4
Chromosomal Location155491361-155559269 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 155540547 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 noncoding transcript
Transcript: ENSMUST00000175705
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,699 noncoding transcript Het
A830018L16Rik T A 1: 11,545,151 probably null Het
Akr1c14 C T 13: 4,079,130 R45* probably null Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ccdc66 T A 14: 27,490,671 N565I probably damaging Het
Cerkl G T 2: 79,342,375 A318E probably damaging Het
Clec4n A T 6: 123,232,146 T57S probably benign Het
Cluh A G 11: 74,665,752 E921G probably benign Het
Cnbd1 C T 4: 18,860,565 E394K possibly damaging Het
Dmgdh G T 13: 93,706,701 M348I probably benign Het
Dnajc13 G A 9: 104,174,426 S1744L possibly damaging Het
Dspp A T 5: 104,177,561 S597C unknown Het
Dync1h1 A T 12: 110,628,734 N1360I probably benign Het
Eepd1 A G 9: 25,603,412 H505R possibly damaging Het
Gcnt7 T C 2: 172,454,383 T174A possibly damaging Het
Gpam A G 19: 55,071,016 S800P probably benign Het
Gsr T C 8: 33,694,996 probably benign Het
Herc2 A G 7: 56,155,130 K2302R probably benign Het
Hipk1 C A 3: 103,777,259 A347S possibly damaging Het
Iqgap2 T C 13: 95,731,434 N222S probably damaging Het
Marco T A 1: 120,494,795 M46L probably benign Het
Morc2b A T 17: 33,138,363 V145D probably damaging Het
Mprip C A 11: 59,696,163 P54Q probably damaging Het
Ndufv2 A T 17: 66,083,449 C175* probably null Het
Olfr1181 T C 2: 88,423,227 D266G probably damaging Het
Olfr272 A G 4: 52,910,835 *320Q probably null Het
Orc3 A C 4: 34,595,210 I195S probably damaging Het
Otos C A 1: 92,644,413 E64* probably null Het
Plxna2 T C 1: 194,804,945 S1603P probably damaging Het
Rlf A T 4: 121,148,330 I1151N probably benign Het
Scaper A G 9: 55,874,823 V283A probably benign Het
Sdccag3 A T 2: 26,387,676 probably benign Het
Slc25a43 A G X: 36,775,599 T270A probably benign Het
Slc35a5 A G 16: 45,143,781 V78A probably damaging Het
Smurf1 A T 5: 144,881,799 D636E probably benign Het
Tchhl1 A T 3: 93,470,275 E95D probably damaging Het
Tcp10a A G 17: 7,326,492 E72G possibly damaging Het
Tmem232 A G 17: 65,450,374 S275P probably damaging Het
Ugt1a5 T C 1: 88,166,818 F256S probably damaging Het
Vmn2r5 A G 3: 64,491,326 V744A probably benign Het
Vmn2r53 A T 7: 12,598,422 S433R probably benign Het
Vmn2r9 A T 5: 108,848,131 I217N probably damaging Het
Wdr83 G T 8: 85,080,587 A10E probably benign 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
IGL02470:Gnb1 APN 4 155527513 splice site probably benign
IGL02928:Gnb1 APN 4 155553406 missense 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 On2016-08-02