Incidental Mutation 'R6603:Gnb4'
ID 525419
Institutional Source Beutler Lab
Gene Symbol Gnb4
Ensembl Gene ENSMUSG00000027669
Gene Name guanine nucleotide binding protein (G protein), beta 4
Synonyms 6720453A21Rik
MMRRC Submission 044726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6603 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32634481-32670734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32639295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 333 (D333N)
Ref Sequence ENSEMBL: ENSMUSP00000121127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108234] [ENSMUST00000155737] [ENSMUST00000184130]
AlphaFold P29387
Predicted Effect probably damaging
Transcript: ENSMUST00000108234
AA Change: D333N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: D333N

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: ENSMUST00000152901
Predicted Effect probably damaging
Transcript: ENSMUST00000155737
AA Change: D333N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: D333N

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 25,155,518 (GRCm39) F167Y possibly damaging Het
Ap3d1 A G 10: 80,549,881 (GRCm39) S755P probably benign Het
Aph1a A T 3: 95,802,808 (GRCm39) N136I probably damaging Het
AU040320 T A 4: 126,686,046 (GRCm39) N207K probably benign Het
Caprin1 A T 2: 103,605,856 (GRCm39) D377E probably benign Het
Col18a1 A G 10: 76,899,811 (GRCm39) probably null Het
Ddi2 T C 4: 141,411,181 (GRCm39) N577S probably damaging Het
Dip2c T A 13: 9,704,624 (GRCm39) probably null Het
Dmbt1 A T 7: 130,648,240 (GRCm39) probably null Het
Fam13a T C 6: 58,964,174 (GRCm39) K86R probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxl8 A T 8: 105,994,842 (GRCm39) D118V probably damaging Het
Garin5b G A 7: 4,761,431 (GRCm39) P427L possibly damaging Het
Git2 C A 5: 114,869,052 (GRCm39) probably null Het
Gm17190 T G 13: 96,218,770 (GRCm39) D35E possibly damaging Het
Has2 T A 15: 56,531,968 (GRCm39) D249V probably damaging Het
Ighv1-23 A G 12: 114,728,141 (GRCm39) S94P probably damaging Het
Itpr2 A G 6: 146,248,669 (GRCm39) I1029T probably damaging Het
Kctd16 T C 18: 40,391,544 (GRCm39) I44T probably benign Het
Kpna1 A G 16: 35,849,890 (GRCm39) probably null Het
Lonrf1 T A 8: 36,690,095 (GRCm39) R654S probably damaging Het
Lrrc49 A C 9: 60,501,052 (GRCm39) probably null Het
Miip T G 4: 147,950,380 (GRCm39) K72T possibly damaging Het
Mink1 C T 11: 70,500,419 (GRCm39) P782S probably damaging Het
Mpped2 A G 2: 106,697,322 (GRCm39) T266A probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Naip1 C T 13: 100,559,666 (GRCm39) G1113S probably benign Het
Nbr1 A G 11: 101,446,931 (GRCm39) probably benign Het
Necab3 A T 2: 154,396,842 (GRCm39) N46K probably damaging Het
Or51a8 A T 7: 102,549,621 (GRCm39) I16F probably benign Het
Phtf1 C T 3: 103,901,189 (GRCm39) R360C probably damaging Het
Plcl2 A G 17: 50,914,145 (GRCm39) I385V probably benign Het
Prmt8 A T 6: 127,706,376 (GRCm39) F138L probably benign Het
Prpf40a T G 2: 53,042,975 (GRCm39) R436S probably damaging Het
Rab27b T A 18: 70,118,375 (GRCm39) I181F probably damaging Het
Rasgrf1 A G 9: 89,792,310 (GRCm39) E87G probably damaging Het
Scrib T A 15: 75,934,572 (GRCm39) T674S probably benign Het
Slc9a4 A G 1: 40,662,664 (GRCm39) S644G probably benign Het
Slc9a9 G A 9: 94,821,599 (GRCm39) A329T probably damaging Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Sox7 T A 14: 64,185,637 (GRCm39) H224Q probably benign Het
Spata31 T C 13: 65,070,479 (GRCm39) S876P probably damaging Het
Syndig1 G A 2: 149,845,208 (GRCm39) V244M probably damaging Het
Tas2r113 A T 6: 132,870,421 (GRCm39) I150L probably benign Het
Tasor A G 14: 27,168,343 (GRCm39) Y295C probably damaging Het
Tmem59l G A 8: 70,939,006 (GRCm39) P56L probably benign Het
Tnfrsf8 A T 4: 145,019,168 (GRCm39) D222E possibly damaging Het
Trim52 T C 14: 106,344,483 (GRCm39) L47P probably damaging Het
Ttc34 T A 4: 154,923,762 (GRCm39) I157K probably benign Het
Txndc16 A G 14: 45,389,224 (GRCm39) F492S probably damaging Het
Ubr4 A G 4: 139,182,897 (GRCm39) I428V probably benign Het
Vmn2r41 T A 7: 8,141,359 (GRCm39) I702F probably damaging Het
Wdr12 T A 1: 60,121,783 (GRCm39) H256L probably damaging Het
Xirp2 A G 2: 67,346,888 (GRCm39) H3043R probably benign Het
Xrcc1 C T 7: 24,270,459 (GRCm39) Q500* probably null Het
Zfp583 T C 7: 6,328,475 (GRCm39) N38S probably damaging 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
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
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'- TAAACTACAGCTTATTGAACGCTGC -3'
(R):5'- TATGCTGGACTTGGCTCTAGC -3'

Sequencing Primer
(F):5'- ACGCTGCTTTTTATATATAGTCACC -3'
(R):5'- TAGCACTAGTCTTCCCAGAATGACTG -3'
Posted On 2018-06-22