Incidental Mutation 'IGL00962:Gnb4'
ID 27145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb4
Ensembl Gene ENSMUSG00000027669
Gene Name guanine nucleotide binding protein (G protein), beta 4
Synonyms 6720453A21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00962
Quality Score
Status
Chromosome 3
Chromosomal Location 32634481-32670734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32647318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 86 (T86A)
Ref Sequence ENSEMBL: ENSMUSP00000121127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108234] [ENSMUST00000155737] [ENSMUST00000184130] [ENSMUST00000193050]
AlphaFold P29387
Predicted Effect probably benign
Transcript: ENSMUST00000108234
AA Change: T86A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: T86A

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: T86A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: T86A

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,564,723 (GRCm39) probably null Het
Atp8b1 C T 18: 64,664,515 (GRCm39) A1218T probably damaging Het
AY761185 T C 8: 21,434,611 (GRCm39) D39G possibly damaging Het
Fam167a G A 14: 63,699,904 (GRCm39) E155K probably damaging Het
Fat3 C T 9: 15,826,815 (GRCm39) G4379D probably benign Het
Fkbp10 A G 11: 100,312,643 (GRCm39) T300A probably benign Het
Gm6665 T C 18: 31,953,204 (GRCm39) K57R probably benign Het
H2-Q2 A G 17: 35,561,825 (GRCm39) Y105C probably damaging Het
Ighv1-75 A G 12: 115,797,883 (GRCm39) probably benign Het
Ilvbl A G 10: 78,419,172 (GRCm39) T474A possibly damaging Het
Shld2 A T 14: 33,971,208 (GRCm39) V559E probably damaging Het
Slc45a3 T A 1: 131,905,265 (GRCm39) V96D probably damaging Het
Tmtc3 C T 10: 100,307,815 (GRCm39) G201R probably damaging Het
Tnfsf14 G A 17: 57,499,906 (GRCm39) Q83* probably null Het
Trpm2 A G 10: 77,779,750 (GRCm39) probably benign Het
Ubr5 A T 15: 37,986,178 (GRCm39) F2219I probably damaging Het
Utrn C T 10: 12,357,078 (GRCm39) V2747I possibly damaging Het
Vcan T C 13: 89,810,171 (GRCm39) N3207D probably damaging Het
Vmn1r35 A G 6: 66,656,361 (GRCm39) V103A possibly damaging Het
Vmn2r97 A G 17: 19,149,490 (GRCm39) T293A probably damaging Het
Wdr35 A G 12: 9,071,726 (GRCm39) probably benign Het
Other mutations in Gnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02527:Gnb4 APN 3 32,644,015 (GRCm39) missense probably benign 0.01
IGL02589:Gnb4 APN 3 32,643,998 (GRCm39) missense probably damaging 1.00
IGL02640:Gnb4 APN 3 32,645,374 (GRCm39) missense probably benign 0.09
IGL02966:Gnb4 APN 3 32,639,372 (GRCm39) missense probably benign 0.19
IGL03225:Gnb4 APN 3 32,641,881 (GRCm39) missense probably damaging 0.98
IGL03248:Gnb4 APN 3 32,639,324 (GRCm39) missense probably damaging 1.00
R0619:Gnb4 UTSW 3 32,645,356 (GRCm39) missense probably benign 0.04
R0620:Gnb4 UTSW 3 32,645,356 (GRCm39) missense probably benign 0.04
R0621:Gnb4 UTSW 3 32,645,356 (GRCm39) missense probably benign 0.04
R1278:Gnb4 UTSW 3 32,641,886 (GRCm39) missense probably damaging 1.00
R1661:Gnb4 UTSW 3 32,644,188 (GRCm39) nonsense probably null
R1665:Gnb4 UTSW 3 32,644,188 (GRCm39) nonsense probably null
R1970:Gnb4 UTSW 3 32,652,290 (GRCm39) missense probably damaging 1.00
R4915:Gnb4 UTSW 3 32,639,236 (GRCm39) utr 3 prime probably benign
R5452:Gnb4 UTSW 3 32,643,994 (GRCm39) missense probably benign 0.06
R5618:Gnb4 UTSW 3 32,645,356 (GRCm39) missense probably benign 0.04
R6603:Gnb4 UTSW 3 32,639,295 (GRCm39) missense probably damaging 1.00
R7681:Gnb4 UTSW 3 32,641,902 (GRCm39) missense possibly damaging 0.51
R7791:Gnb4 UTSW 3 32,644,192 (GRCm39) missense possibly damaging 0.84
R7822:Gnb4 UTSW 3 32,650,480 (GRCm39) missense probably damaging 1.00
R8221:Gnb4 UTSW 3 32,644,184 (GRCm39) missense possibly damaging 0.48
Posted On 2013-04-17