Incidental Mutation 'R7135:Gnb1l'
ID 553035
Institutional Source Beutler Lab
Gene Symbol Gnb1l
Ensembl Gene ENSMUSG00000000884
Gene Name guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Synonyms ESTM55, Wdr14, Wdvcf, Me49f07
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18317463-18385429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18363918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 154 (D154E)
Ref Sequence ENSEMBL: ENSMUSP00000130371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000904] [ENSMUST00000090086] [ENSMUST00000115600] [ENSMUST00000115601] [ENSMUST00000139625] [ENSMUST00000147739] [ENSMUST00000167778] [ENSMUST00000149035] [ENSMUST00000231621]
AlphaFold Q9EQ15
Predicted Effect probably benign
Transcript: ENSMUST00000000904
SMART Domains Protein: ENSMUSP00000000904
Gene: ENSMUSG00000000884

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 benign
Transcript: ENSMUST00000090086
SMART Domains Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884

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 benign
Transcript: ENSMUST00000115600
SMART Domains Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884

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 benign
Transcript: ENSMUST00000115601
SMART Domains Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884

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 probably benign
Transcript: ENSMUST00000139625
SMART Domains Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
Blast:WD40 35 75 2e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000147739
SMART Domains Protein: ENSMUSP00000123200
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
WD40 8 52 1.12e-2 SMART
WD40 55 95 1.36e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167778
AA Change: D154E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: D154E

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 benign
Transcript: ENSMUST00000149035
SMART Domains Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
Blast:WD40 35 76 8e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000231621
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Mlycd C T 8: 120,129,216 (GRCm39) R228W probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Ninl T C 2: 150,797,524 (GRCm39) H592R probably benign Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Pum2 A T 12: 8,778,952 (GRCm39) Q508L possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slc5a12 T A 2: 110,447,059 (GRCm39) M189K possibly damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Teddm1b A T 1: 153,750,912 (GRCm39) L240F probably damaging Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown Het
Other mutations in Gnb1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Gnb1l APN 16 18,362,950 (GRCm39) missense probably damaging 1.00
IGL02860:Gnb1l APN 16 18,371,285 (GRCm39) missense probably damaging 0.99
IGL03155:Gnb1l APN 16 18,359,282 (GRCm39) splice site probably null
IGL03169:Gnb1l APN 16 18,359,205 (GRCm39) missense probably damaging 1.00
R0017:Gnb1l UTSW 16 18,359,810 (GRCm39) missense probably damaging 1.00
R0267:Gnb1l UTSW 16 18,366,839 (GRCm39) splice site probably benign
R0365:Gnb1l UTSW 16 18,371,211 (GRCm39) missense possibly damaging 0.95
R0845:Gnb1l UTSW 16 18,371,223 (GRCm39) missense probably benign 0.01
R2975:Gnb1l UTSW 16 18,383,016 (GRCm39) missense probably damaging 1.00
R3438:Gnb1l UTSW 16 18,371,117 (GRCm39) missense probably benign 0.01
R3439:Gnb1l UTSW 16 18,371,117 (GRCm39) missense probably benign 0.01
R4650:Gnb1l UTSW 16 18,363,025 (GRCm39) critical splice donor site probably null
R4776:Gnb1l UTSW 16 18,366,846 (GRCm39) nonsense probably null
R7290:Gnb1l UTSW 16 18,382,806 (GRCm39) missense probably benign 0.37
R7488:Gnb1l UTSW 16 18,359,220 (GRCm39) missense possibly damaging 0.90
R8195:Gnb1l UTSW 16 18,362,965 (GRCm39) missense probably benign 0.44
R9074:Gnb1l UTSW 16 18,359,745 (GRCm39) missense probably damaging 1.00
R9457:Gnb1l UTSW 16 18,359,745 (GRCm39) missense probably damaging 1.00
R9593:Gnb1l UTSW 16 18,362,914 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- CCTAGCAGCAATGAGGACAG -3'
(R):5'- CTGAACAGCTCCTACCTAAGGC -3'

Sequencing Primer
(F):5'- TGAGGACAGAGTAATATGGAGTCC -3'
(R):5'- GCTACCACAGTGGGGTCTTTC -3'
Posted On 2019-05-15