Incidental Mutation 'R0621:Gnb4'
ID 58658
Institutional Source Beutler Lab
Gene Symbol Gnb4
Ensembl Gene ENSMUSG00000027669
Gene Name guanine nucleotide binding protein (G protein), beta 4
Synonyms 6720453A21Rik
MMRRC Submission 038810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0621 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 32634481-32670734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32645356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 112 (V112I)
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: V112I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: V112I

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: V112I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: V112I

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
Meta Mutation Damage Score 0.0992 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,399,898 (GRCm39) D33G probably damaging Het
Adgre1 T A 17: 57,748,359 (GRCm39) S520T probably damaging Het
Afg2a C T 3: 37,486,178 (GRCm39) T300I probably benign Het
Ankrd40 A G 11: 94,230,433 (GRCm39) probably null Het
Aph1b A T 9: 66,686,616 (GRCm39) I177K possibly damaging Het
Armc3 A T 2: 19,300,204 (GRCm39) N579I probably damaging Het
Atxn7l1 T C 12: 33,376,099 (GRCm39) V131A probably benign Het
C130073F10Rik A G 4: 101,747,992 (GRCm39) Y61H probably damaging Het
C1s2 A T 6: 124,608,071 (GRCm39) L214Q probably damaging Het
Caprin2 A T 6: 148,760,176 (GRCm39) S425T possibly damaging Het
Cdc42ep4 G A 11: 113,619,522 (GRCm39) R290C probably damaging Het
Cenpf T C 1: 189,404,825 (GRCm39) T352A probably benign Het
Col6a4 A T 9: 105,943,990 (GRCm39) F1161L probably damaging Het
Dctn2 T C 10: 127,113,809 (GRCm39) probably null Het
Ddx24 T C 12: 103,391,817 (GRCm39) probably benign Het
Dsg1c C A 18: 20,412,752 (GRCm39) A591D possibly damaging Het
Efnb3 T C 11: 69,446,798 (GRCm39) D304G probably damaging Het
Erbb3 T C 10: 128,422,094 (GRCm39) Y50C probably benign Het
Eya3 T G 4: 132,422,113 (GRCm39) D275E probably benign Het
Fam81a G T 9: 70,000,929 (GRCm39) Q272K probably benign Het
Foxf1 T C 8: 121,811,919 (GRCm39) V261A probably damaging Het
Gm9637 G A 14: 19,402,011 (GRCm38) noncoding transcript Het
Gtf2h2 A T 13: 100,625,433 (GRCm39) L61Q probably damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Hoxb3 A T 11: 96,236,789 (GRCm39) Y289F probably damaging Het
Kctd3 C T 1: 188,713,538 (GRCm39) R399Q probably damaging Het
Kif26b C G 1: 178,743,218 (GRCm39) P1105A probably benign Het
Klhl30 C T 1: 91,285,585 (GRCm39) T369M probably damaging Het
Lipo2 C T 19: 33,708,339 (GRCm39) G225D probably damaging Het
Macf1 T C 4: 123,274,327 (GRCm39) K6350E probably damaging Het
Myh13 A C 11: 67,232,058 (GRCm39) N446T probably damaging Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Or10j2 C T 1: 173,098,242 (GRCm39) P167S possibly damaging Het
Or11h7 G A 14: 50,891,419 (GRCm39) G242R possibly damaging Het
Or4a77 C A 2: 89,487,459 (GRCm39) E109* probably null Het
Pde3a T C 6: 141,195,725 (GRCm39) L137P probably damaging Het
Ppm1f G A 16: 16,733,172 (GRCm39) R233Q probably benign Het
Rtf2 C A 2: 172,308,216 (GRCm39) A205E possibly damaging Het
Sh2d5 T C 4: 137,985,629 (GRCm39) F359S probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc39a11 G A 11: 113,354,905 (GRCm39) P108L probably benign Het
Slc6a5 G A 7: 49,567,113 (GRCm39) probably null Het
Snph C T 2: 151,435,642 (GRCm39) V360M probably damaging Het
Snx29 A G 16: 11,223,651 (GRCm39) probably null Het
Sos1 A G 17: 80,759,408 (GRCm39) probably null Het
St8sia6 T A 2: 13,662,093 (GRCm39) N246I probably damaging Het
Thy1 T A 9: 43,958,030 (GRCm39) F53I probably damaging Het
Tle3 T A 9: 61,317,387 (GRCm39) Y421* probably null Het
Ttc21b C T 2: 66,056,355 (GRCm39) R677Q probably benign Het
Vmn2r107 A T 17: 20,595,252 (GRCm39) I602F probably benign Het
Wdr17 C A 8: 55,096,226 (GRCm39) G1016C probably benign Het
Wdr62 T C 7: 29,953,486 (GRCm39) E182G possibly damaging Het
Zfp597 A G 16: 3,684,228 (GRCm39) I176T probably benign Het
Other mutations in Gnb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Gnb4 APN 3 32,647,318 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GGACACAATCTGCCCGTATCCTTG -3'
(R):5'- TCCATGTGACCTGCCAGCATTGAC -3'

Sequencing Primer
(F):5'- TGATCAGGAAGGAAGAAGGCTG -3'
(R):5'- CATTGACAGGGACATCCTGTG -3'
Posted On 2013-07-11