Incidental Mutation 'IGL02860:Gnb1l'
ID 362122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb1l
Ensembl Gene ENSMUSG00000000884
Gene Name guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Synonyms ESTM55, Wdr14, Wdvcf, Me49f07
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # IGL02860
Quality Score
Status
Chromosome 16
Chromosomal Location 18317463-18385429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18371285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 259 (G259R)
Ref Sequence ENSEMBL: ENSMUSP00000130371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000904] [ENSMUST00000090086] [ENSMUST00000115600] [ENSMUST00000115601] [ENSMUST00000167778] [ENSMUST00000231621] [ENSMUST00000139625] [ENSMUST00000149035]
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
AA Change: G228R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: G228R

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 possibly damaging
Transcript: ENSMUST00000115601
AA Change: G214R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: G214R

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 damaging
Transcript: ENSMUST00000167778
AA Change: G259R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: G259R

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 noncoding transcript
Transcript: ENSMUST00000151253
Predicted Effect probably benign
Transcript: ENSMUST00000231621
AA Change: G228R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232235
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: ENSMUST00000149035
SMART Domains Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884

DomainStartEndE-ValueType
Blast:WD40 35 76 8e-19 BLAST
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,073,915 (GRCm39) M832L probably benign Het
Cars1 A T 7: 143,140,158 (GRCm39) D99E probably damaging Het
Ccdc112 A G 18: 46,420,509 (GRCm39) F414L probably benign Het
Chst15 C T 7: 131,870,831 (GRCm39) V235I probably benign Het
Dysf G T 6: 84,167,880 (GRCm39) probably null Het
Elavl2 T C 4: 91,149,190 (GRCm39) D174G probably damaging Het
Gapdhs T A 7: 30,429,308 (GRCm39) probably null Het
Ighv9-2 T G 12: 114,072,857 (GRCm39) I39L possibly damaging Het
Kntc1 T A 5: 123,907,936 (GRCm39) N474K possibly damaging Het
Lrrc8c T C 5: 105,727,481 (GRCm39) probably benign Het
Lyn C T 4: 3,745,594 (GRCm39) A131V possibly damaging Het
Mindy2 T C 9: 70,563,826 (GRCm39) E168G probably damaging Het
Morc2a T C 11: 3,611,821 (GRCm39) probably benign Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nell1 A T 7: 50,498,233 (GRCm39) I597F probably damaging Het
Nudt12 T A 17: 59,317,430 (GRCm39) R72S probably benign Het
Pan2 C T 10: 128,146,604 (GRCm39) R414* probably null Het
Rb1 T C 14: 73,443,452 (GRCm39) R768G probably damaging Het
Rps6ka2 A G 17: 7,550,255 (GRCm39) E440G possibly damaging Het
Serpinb3a C T 1: 106,977,183 (GRCm39) probably benign Het
Stx8 C A 11: 67,875,391 (GRCm39) T72K probably damaging Het
Tecrl A G 5: 83,502,844 (GRCm39) F2L probably benign Het
Tmem263 C T 10: 84,950,416 (GRCm39) T69I probably damaging Het
Ttc39b T C 4: 83,181,983 (GRCm39) N49D probably benign Het
Ttn A G 2: 76,547,359 (GRCm39) L32229P probably damaging Het
Zfp358 T C 8: 3,546,074 (GRCm39) F219L probably damaging Het
Other mutations in Gnb1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Gnb1l APN 16 18,362,950 (GRCm39) missense probably damaging 1.00
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
R7135:Gnb1l UTSW 16 18,363,918 (GRCm39) missense probably benign 0.05
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
Posted On 2015-12-18