Incidental Mutation 'IGL02640:Gnb4'
ID301711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb4
Ensembl Gene ENSMUSG00000027669
Gene Nameguanine nucleotide binding protein (G protein), beta 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02640
Quality Score
Status
Chromosome3
Chromosomal Location32580332-32616585 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32591225 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 106 (A106T)
Ref Sequence ENSEMBL: ENSMUSP00000121127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108234] [ENSMUST00000155737] [ENSMUST00000184130] [ENSMUST00000193050]
Predicted Effect probably benign
Transcript: ENSMUST00000108234
AA Change: A106T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: A106T

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
WD40 44 83 2.26e-7 SMART
WD40 86 125 3.22e-3 SMART
WD40 132 170 1.11e-6 SMART
WD40 173 212 1.96e-7 SMART
WD40 215 254 9.16e-8 SMART
WD40 257 298 2.8e-3 SMART
WD40 301 340 1.44e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152901
Predicted Effect probably benign
Transcript: ENSMUST00000155737
AA Change: A106T

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: A106T

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
WD40 44 83 2.26e-7 SMART
WD40 86 125 3.22e-3 SMART
WD40 132 170 1.11e-6 SMART
WD40 173 212 1.96e-7 SMART
WD40 215 254 9.16e-8 SMART
WD40 257 298 2.8e-3 SMART
WD40 301 340 1.44e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184130
SMART Domains Protein: ENSMUSP00000138886
Gene: ENSMUSG00000027669

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192116
Predicted Effect probably benign
Transcript: ENSMUST00000193050
SMART Domains Protein: ENSMUSP00000141196
Gene: ENSMUSG00000027669

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
PDB:4KFM|B 18 68 8e-24 PDB
SCOP:d1g72a_ 36 68 4e-3 SMART
Blast:WD40 44 72 2e-11 BLAST
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. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik T C X: 89,752,604 V14A probably benign Het
Alkbh3 C A 2: 93,996,361 R165L possibly damaging Het
Arap3 A G 18: 37,987,802 V730A possibly damaging Het
Arcn1 A C 9: 44,751,317 I344S probably damaging Het
Ascc3 A C 10: 50,767,374 D1807A possibly damaging Het
Atp2b3 A G X: 73,542,205 S615G probably benign Het
Ccdc40 A G 11: 119,238,078 N450S probably benign Het
Cep41 T C 6: 30,658,868 E160G probably benign Het
Cxxc1 T C 18: 74,221,183 L654P probably damaging Het
Dupd1 T A 14: 21,703,055 T8S probably damaging Het
Gosr1 T C 11: 76,754,777 N59S probably benign Het
Itgav A G 2: 83,791,939 T622A probably benign Het
Lamc2 A G 1: 153,152,057 I207T probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Mcm3ap G T 10: 76,506,421 D1583Y probably damaging Het
Mphosph9 A T 5: 124,315,500 F220I possibly damaging Het
Olfr113 A G 17: 37,575,021 V134A possibly damaging Het
Olfr698 A T 7: 106,753,352 F12Y probably damaging Het
Plcb1 T G 2: 135,220,859 probably benign Het
Polr3c G A 3: 96,716,686 T312M probably damaging Het
Ptpn12 G T 5: 21,019,246 D116E probably damaging Het
Ptprb A G 10: 116,338,664 D747G probably damaging Het
Scn9a A G 2: 66,536,096 probably null Het
Slit3 T C 11: 35,700,345 V1328A probably benign Het
Sucla2 C A 14: 73,581,806 S264Y probably benign Het
Tagln3 T C 16: 45,724,233 D25G probably benign Het
Tbck A G 3: 132,774,486 T709A probably benign Het
Tead1 C T 7: 112,861,456 A189V probably benign Het
Tmem234 A G 4: 129,601,103 Q46R probably damaging Het
Trpm1 T A 7: 64,219,133 L395Q probably damaging Het
Tti2 T A 8: 31,155,914 W419R probably damaging Het
Vmn2r3 A T 3: 64,287,395 M34K probably benign Het
Vps13c G T 9: 67,886,248 probably benign Het
Zfp521 A T 18: 13,844,930 Y809N probably benign Het
Other mutations in Gnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Gnb4 APN 3 32593169 missense probably benign 0.01
IGL02527:Gnb4 APN 3 32589866 missense probably benign 0.01
IGL02589:Gnb4 APN 3 32589849 missense probably damaging 1.00
IGL02966:Gnb4 APN 3 32585223 missense probably benign 0.19
IGL03225:Gnb4 APN 3 32587732 missense probably damaging 0.98
IGL03248:Gnb4 APN 3 32585175 missense probably damaging 1.00
R0619:Gnb4 UTSW 3 32591207 missense probably benign 0.04
R0620:Gnb4 UTSW 3 32591207 missense probably benign 0.04
R0621:Gnb4 UTSW 3 32591207 missense probably benign 0.04
R1278:Gnb4 UTSW 3 32587737 missense probably damaging 1.00
R1661:Gnb4 UTSW 3 32590039 nonsense probably null
R1665:Gnb4 UTSW 3 32590039 nonsense probably null
R1970:Gnb4 UTSW 3 32598141 missense probably damaging 1.00
R4915:Gnb4 UTSW 3 32585087 utr 3 prime probably benign
R5452:Gnb4 UTSW 3 32589845 missense probably benign 0.06
R5618:Gnb4 UTSW 3 32591207 missense probably benign 0.04
R6603:Gnb4 UTSW 3 32585146 missense probably damaging 1.00
R7681:Gnb4 UTSW 3 32587753 missense possibly damaging 0.51
R7791:Gnb4 UTSW 3 32590043 missense possibly damaging 0.84
R7822:Gnb4 UTSW 3 32596331 missense probably damaging 1.00
Posted On2015-04-16