Incidental Mutation 'IGL01587:Gnaz'
ID 93359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnaz
Ensembl Gene ENSMUSG00000040009
Gene Name guanine nucleotide binding protein, alpha z subunit
Synonyms Gz
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01587
Quality Score
Status
Chromosome 10
Chromosomal Location 74803009-74852739 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74827776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 176 (L176Q)
Ref Sequence ENSEMBL: ENSMUSP00000124639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000037813] [ENSMUST00000159991] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
AlphaFold O70443
Predicted Effect probably benign
Transcript: ENSMUST00000009214
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 9.9e-8 PFAM
ARM 138 178 3.18e1 SMART
ARM 218 258 1.88e0 SMART
ARM 259 300 3.32e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000037813
AA Change: L176Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036087
Gene: ENSMUSG00000040009
AA Change: L176Q

DomainStartEndE-ValueType
G_alpha 13 354 1.05e-210 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159991
AA Change: L176Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124639
Gene: ENSMUSG00000040009
AA Change: L176Q

DomainStartEndE-ValueType
G_alpha 13 354 1.05e-210 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160072
SMART Domains Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 1.6e-8 PFAM
Blast:ARM 138 161 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160421
Predicted Effect probably benign
Transcript: ENSMUST00000160450
SMART Domains Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 4.1e-8 PFAM
Blast:ARM 138 178 3e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166088
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Blast:ARM 48 88 1e-7 BLAST
Blast:ARM 89 129 3e-16 BLAST
ARM 171 211 3.18e1 SMART
ARM 251 291 1.88e0 SMART
ARM 292 333 3.32e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179546
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 9.9e-8 PFAM
ARM 138 178 3.18e1 SMART
ARM 218 258 1.88e0 SMART
ARM 259 300 3.32e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypertolerance to morphine. Mice homozygous for a reporter allele exhibit impaired platelet aggregation, increased resistance to fatal thromboembolism, reduced morphine-elicited antinociception, and altered behavioral responses to addictive substances. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 G A 11: 30,456,362 (GRCm39) S95F probably benign Het
Casr A T 16: 36,330,127 (GRCm39) N402K probably benign Het
Col24a1 A G 3: 145,139,110 (GRCm39) probably null Het
Eps8 A G 6: 137,491,711 (GRCm39) F339S probably damaging Het
Pik3c2g T A 6: 139,700,467 (GRCm39) Y134* probably null Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sh3rf1 A G 8: 61,679,092 (GRCm39) N45D probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Tas1r3 C T 4: 155,945,816 (GRCm39) V527M probably damaging Het
Tbx18 A G 9: 87,606,461 (GRCm39) V228A probably damaging Het
Tenm4 G A 7: 96,512,709 (GRCm39) V1319I probably benign Het
Utp20 C T 10: 88,623,397 (GRCm39) R1044Q probably damaging Het
Other mutations in Gnaz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Gnaz APN 10 74,850,706 (GRCm39) missense probably damaging 1.00
IGL02695:Gnaz APN 10 74,827,974 (GRCm39) critical splice donor site probably null
R0039:Gnaz UTSW 10 74,850,866 (GRCm39) missense probably damaging 1.00
R1768:Gnaz UTSW 10 74,827,702 (GRCm39) missense possibly damaging 0.77
R4924:Gnaz UTSW 10 74,827,545 (GRCm39) missense probably benign 0.00
R5209:Gnaz UTSW 10 74,827,823 (GRCm39) missense probably benign 0.00
R5747:Gnaz UTSW 10 74,827,235 (GRCm39) intron probably benign
R5798:Gnaz UTSW 10 74,850,703 (GRCm39) missense probably damaging 1.00
R6976:Gnaz UTSW 10 74,827,268 (GRCm39) missense possibly damaging 0.63
R9278:Gnaz UTSW 10 74,827,437 (GRCm39) missense probably benign 0.00
Z1177:Gnaz UTSW 10 74,850,792 (GRCm39) missense
Posted On 2013-12-09