Incidental Mutation 'IGL02589:Gnb4'
ID299648
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? Probably non essential (E-score: 0.098) question?
Stock #IGL02589
Quality Score
Status
Chromosome3
Chromosomal Location32580332-32616585 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32589849 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 187 (V187M)
Ref Sequence ENSEMBL: ENSMUSP00000121127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108234] [ENSMUST00000155737] [ENSMUST00000184130] [ENSMUST00000193050]
Predicted Effect probably damaging
Transcript: ENSMUST00000108234
AA Change: V187M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: V187M

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 damaging
Transcript: ENSMUST00000155737
AA Change: V187M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: V187M

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410015M20Rik T C 17: 56,608,856 E66G probably benign Het
5430403G16Rik T A 5: 109,678,520 H62L possibly damaging Het
A2ml1 T G 6: 128,581,500 I5L probably benign Het
Ang6 A G 14: 44,001,962 I103T possibly damaging Het
Arhgdib A G 6: 136,933,578 probably benign Het
Atp13a2 C T 4: 141,006,411 T1037M probably damaging Het
Bptf T C 11: 107,111,531 N252D possibly damaging Het
Capn2 T C 1: 182,484,348 Y387C probably damaging Het
Cdc27 T G 11: 104,505,644 D817A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap3 T G 13: 64,792,430 I318L probably benign Het
Cog6 A T 3: 53,007,270 L255Q probably damaging Het
Ect2l T A 10: 18,140,594 probably benign Het
Ercc5 T C 1: 44,164,049 V282A probably damaging Het
Fras1 A G 5: 96,769,513 D3464G probably damaging Het
Gabrg1 A T 5: 70,842,152 L18* probably null Het
Ggcx T C 6: 72,429,148 Y586H probably damaging Het
Gm5796 A T 14: 4,033,828 K24* probably null Het
Gpt2 C T 8: 85,516,166 Q276* probably null Het
Idnk G T 13: 58,163,425 probably benign Het
Igkv3-9 A G 6: 70,588,699 D94G possibly damaging Het
Ipo8 C A 6: 148,809,907 L294F probably damaging Het
Itgad A T 7: 128,181,711 D157V probably damaging Het
Kcnab3 A T 11: 69,332,102 I392L probably benign Het
Kdm3b A G 18: 34,812,418 S761G possibly damaging Het
Kif21a G A 15: 90,985,286 T454M probably damaging Het
Lta4h A G 10: 93,474,931 N441S probably benign Het
Man2a1 A G 17: 64,679,778 E595G probably benign Het
Mvd T C 8: 122,438,034 probably benign Het
Notch2 A G 3: 98,104,347 probably null Het
Phf20l1 G T 15: 66,615,632 probably benign Het
Rdm1 A G 11: 101,628,005 S13G possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scn4a G T 11: 106,328,132 D953E probably benign Het
Sh2b1 A G 7: 126,469,268 I457T probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tagap C A 17: 7,933,672 T563K possibly damaging Het
Ugt1a7c T C 1: 88,095,638 I173T probably benign Het
Unc79 C T 12: 103,173,496 A2370V probably damaging Het
Vmn2r102 T A 17: 19,681,218 C536S probably damaging Het
Vmn2r53 G A 7: 12,581,945 T649I possibly damaging Het
Whrn G A 4: 63,418,097 Q301* probably null Het
Zfp518a G A 19: 40,914,617 G997R probably damaging 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
IGL02640:Gnb4 APN 3 32591225 missense probably benign 0.09
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
Posted On2015-04-16