Incidental Mutation 'IGL02527:Gnb4'
ID 297123
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 # IGL02527
Quality Score
Status
Chromosome 3
Chromosomal Location 32634481-32670734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32644015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 181 (T181K)
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: T181K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: T181K

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: T181K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: T181K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,392 (GRCm39) V868A probably damaging Het
Adam25 T A 8: 41,206,785 (GRCm39) I17K possibly damaging Het
Arap2 A T 5: 62,906,650 (GRCm39) M123K probably benign Het
Asic3 A G 5: 24,621,275 (GRCm39) M332V probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cand1 A T 10: 119,042,712 (GRCm39) M1126K probably damaging Het
Capn3 A G 2: 120,334,966 (GRCm39) T818A probably damaging Het
Cda G A 4: 138,070,832 (GRCm39) Q104* probably null Het
Cfhr4 T C 1: 139,680,783 (GRCm39) N245S probably damaging Het
Cpeb1 T C 7: 81,009,635 (GRCm39) D234G probably damaging Het
Cpq A G 15: 33,302,509 (GRCm39) Y220C probably damaging Het
Diaph3 T C 14: 87,047,795 (GRCm39) K1026R possibly damaging Het
Dpep1 T C 8: 123,925,487 (GRCm39) F47L probably damaging Het
Dppa4 G T 16: 48,109,456 (GRCm39) R66L possibly damaging Het
Elac1 C A 18: 73,880,304 (GRCm39) E31* probably null Het
Fggy A G 4: 95,585,306 (GRCm39) K62E probably damaging Het
Ficd T A 5: 113,875,027 (GRCm39) M32K probably benign Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Grin2b T A 6: 135,900,389 (GRCm39) Y164F probably damaging Het
Hmmr A G 11: 40,598,932 (GRCm39) L564P probably damaging Het
Hsd17b4 G A 18: 50,293,231 (GRCm39) V257I probably benign Het
Itga10 C A 3: 96,562,940 (GRCm39) probably benign Het
Kcnk18 T C 19: 59,223,707 (GRCm39) V284A probably damaging Het
Klf11 T A 12: 24,705,322 (GRCm39) S259T probably benign Het
Kmt2d C T 15: 98,739,628 (GRCm39) probably benign Het
Manea A G 4: 26,336,619 (GRCm39) probably null Het
Mybl1 T C 1: 9,760,373 (GRCm39) H75R probably damaging Het
Neb G A 2: 52,153,959 (GRCm39) T2384M probably damaging Het
Neb A G 2: 52,039,225 (GRCm39) I6938T probably benign Het
Ntrk3 T C 7: 78,101,697 (GRCm39) D412G probably benign Het
Olah T C 2: 3,343,979 (GRCm39) E211G probably damaging Het
Or10ag2 T C 2: 87,249,181 (GRCm39) L261S probably damaging Het
Paxbp1 A T 16: 90,834,161 (GRCm39) N208K possibly damaging Het
Prrc1 T A 18: 57,522,419 (GRCm39) M417K probably benign Het
Ptprq G A 10: 107,522,424 (GRCm39) T543M probably benign Het
Rasal1 T C 5: 120,804,469 (GRCm39) V447A probably damaging Het
Rbl1 T C 2: 157,035,968 (GRCm39) E287G probably benign Het
Rusf1 T A 7: 127,875,403 (GRCm39) T317S possibly damaging Het
Tec A G 5: 72,936,758 (GRCm39) probably null Het
Tex26 A G 5: 149,380,407 (GRCm39) D61G probably damaging Het
Tgfb1i1 G A 7: 127,851,734 (GRCm39) probably benign Het
Tmem132c T C 5: 127,436,675 (GRCm39) Y55H possibly damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Umod C T 7: 119,068,690 (GRCm39) G452D probably damaging Het
Vcan G A 13: 89,838,776 (GRCm39) T2256I possibly damaging Het
Vmn1r31 A T 6: 58,449,778 (GRCm39) I29K probably benign Het
Vmn2r117 A G 17: 23,696,199 (GRCm39) Y403H possibly damaging Het
Vmn2r124 A T 17: 18,286,764 (GRCm39) probably null Het
Vmn2r65 T A 7: 84,595,724 (GRCm39) K320M possibly damaging Het
Other mutations in Gnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Gnb4 APN 3 32,647,318 (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 2015-04-16