Incidental Mutation 'IGL03169:Gnb1l'
ID411744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb1l
Ensembl Gene ENSMUSG00000000884
Gene Nameguanine nucleotide binding protein (G protein), beta polypeptide 1-like
SynonymsESTM55, Wdvcf, Wdr14, Me49f07
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.919) question?
Stock #IGL03169
Quality Score
Status
Chromosome16
Chromosomal Location18498713-18566679 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 18540455 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 2 (A2V)
Ref Sequence ENSEMBL: ENSMUSP00000156162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000904] [ENSMUST00000090086] [ENSMUST00000115600] [ENSMUST00000115601] [ENSMUST00000139625] [ENSMUST00000147739] [ENSMUST00000149035] [ENSMUST00000167778] [ENSMUST00000231621]
Predicted Effect probably damaging
Transcript: ENSMUST00000000904
AA Change: A2V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000904
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
Blast:WD40 112 143 1e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000090086
AA Change: A2V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
WD40 146 193 9.17e1 SMART
WD40 196 235 4.79e-1 SMART
WD40 238 280 4.79e-1 SMART
WD40 283 321 6.04e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115600
AA Change: A2V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
Blast:WD40 136 188 3e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000115601
AA Change: A2V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
Blast:WD40 138 179 1e-16 BLAST
WD40 182 221 4.79e-1 SMART
WD40 224 266 4.79e-1 SMART
WD40 269 307 6.04e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129952
Predicted Effect probably benign
Transcript: ENSMUST00000139625
SMART Domains Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
Blast:WD40 35 75 2e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000147739
AA Change: A2V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123200
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149035
SMART Domains Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
Blast:WD40 35 76 8e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000167778
AA Change: A2V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: A2V

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
WD40 146 193 9.17e1 SMART
WD40 196 235 4.79e-1 SMART
WD40 238 280 4.79e-1 SMART
WD40 283 321 6.04e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000231621
AA Change: A2V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232235
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit significantly reduced prepulse inhibition. Homozygotes die during early gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 83,931,995 I548F probably damaging Het
Adgrv1 T A 13: 81,503,900 Q2995L probably damaging Het
Capn9 T C 8: 124,605,877 I485T probably damaging Het
Ccdc17 T A 4: 116,597,760 I197N probably damaging Het
Chl1 T A 6: 103,665,967 L222Q probably damaging Het
Ctla4 T C 1: 60,914,605 probably benign Het
Cyp2d12 T C 15: 82,559,291 S485P probably benign Het
Ddx50 A T 10: 62,621,387 probably null Het
Dlgap4 C A 2: 156,711,018 probably null Het
Dpysl4 G A 7: 139,099,910 probably null Het
Erbin T C 13: 103,841,232 M606V possibly damaging Het
Fat4 T G 3: 38,957,398 S2216A probably benign Het
Frem2 T C 3: 53,522,292 N2779S probably benign Het
Fut1 T C 7: 45,619,033 V82A probably benign Het
Hdac1 C T 4: 129,518,831 E327K probably null Het
Hdlbp A G 1: 93,416,587 V819A possibly damaging Het
Ift122 T C 6: 115,905,961 probably benign Het
Iqgap2 T C 13: 95,731,277 probably null Het
Kntc1 T C 5: 123,775,821 V613A possibly damaging Het
Lamb1 T C 12: 31,323,646 V1458A probably damaging Het
Lef1 A G 3: 131,194,663 K265R probably damaging Het
Lrp2 T C 2: 69,523,194 D574G probably damaging Het
Mterf2 C T 10: 85,120,460 R100H probably benign Het
Nr1d2 C T 14: 18,216,703 R155Q probably damaging Het
Obscn T C 11: 59,073,296 T3304A probably damaging Het
Olfr1251 A G 2: 89,667,487 I133T possibly damaging Het
Olfr137 G T 17: 38,305,101 S120Y probably damaging Het
Os9 G A 10: 127,098,594 T391M probably benign Het
Parp6 C A 9: 59,650,017 Y131* probably null Het
Plxdc1 T C 11: 97,932,320 E358G possibly damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Ptprc A T 1: 138,113,619 S167R probably benign Het
Rad54l2 T C 9: 106,719,064 D225G probably benign Het
Rgs7 T C 1: 175,270,835 I53V possibly damaging Het
Rpa1 T C 11: 75,301,357 D607G probably damaging Het
Shisa5 T A 9: 109,056,492 H213Q probably damaging Het
Syncrip A G 9: 88,456,443 probably benign Het
Taf4b T G 18: 14,821,535 V556G probably damaging Het
Tgif1 A C 17: 70,844,841 S258R possibly damaging Het
Tmem106a T C 11: 101,590,458 probably benign Het
Vmn1r113 A T 7: 20,788,087 H268L probably benign Het
Vmn1r40 A T 6: 89,715,023 Q274L probably damaging Het
Wdr70 A C 15: 7,884,340 I609M possibly damaging Het
Wdr91 G A 6: 34,905,491 S241L possibly damaging Het
Zfyve9 T C 4: 108,695,825 Y713C probably damaging Het
Other mutations in Gnb1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Gnb1l APN 16 18544200 missense probably damaging 1.00
IGL02860:Gnb1l APN 16 18552535 missense probably damaging 0.99
IGL03155:Gnb1l APN 16 18540532 splice site probably null
R0017:Gnb1l UTSW 16 18541060 missense probably damaging 1.00
R0267:Gnb1l UTSW 16 18548089 splice site probably benign
R0365:Gnb1l UTSW 16 18552461 missense possibly damaging 0.95
R0845:Gnb1l UTSW 16 18552473 missense probably benign 0.01
R2975:Gnb1l UTSW 16 18564266 missense probably damaging 1.00
R3438:Gnb1l UTSW 16 18552367 missense probably benign 0.01
R3439:Gnb1l UTSW 16 18552367 missense probably benign 0.01
R4650:Gnb1l UTSW 16 18544275 critical splice donor site probably null
R4776:Gnb1l UTSW 16 18548096 nonsense probably null
R7135:Gnb1l UTSW 16 18545168 missense probably benign 0.05
R7290:Gnb1l UTSW 16 18564056 missense probably benign 0.37
R7488:Gnb1l UTSW 16 18540470 missense possibly damaging 0.90
R8195:Gnb1l UTSW 16 18544215 missense probably benign 0.44
Posted On2016-08-02