Incidental Mutation 'IGL01514:Gnat1'
ID 89303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnat1
Ensembl Gene ENSMUSG00000034837
Gene Name G protein subunit alpha transducin 1
Synonyms transducin, Gnat-1, Tralpha, irdr, Ird2, Ird1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # IGL01514
Quality Score
Status
Chromosome 9
Chromosomal Location 107551636-107556833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107553500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 253 (R253C)
Ref Sequence ENSEMBL: ENSMUSP00000010205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010205] [ENSMUST00000192271]
AlphaFold P20612
Predicted Effect possibly damaging
Transcript: ENSMUST00000010205
AA Change: R253C

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000010205
Gene: ENSMUSG00000034837
AA Change: R253C

DomainStartEndE-ValueType
G_alpha 9 349 5.13e-223 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192271
SMART Domains Protein: ENSMUSP00000141571
Gene: ENSMUSG00000034837

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
transmembrane domain 32 49 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195849
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruption of this gene display retinal degeneration with age and abnormal electrophysiology of the rods. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,144,624 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gars1 T A 6: 55,042,505 (GRCm39) S413T probably benign Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lrp8 T C 4: 107,712,881 (GRCm39) Y377H probably damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pard6g G A 18: 80,160,661 (GRCm39) R258H probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Pycr3 T C 15: 75,788,853 (GRCm39) T240A probably damaging Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Gnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Gnat1 APN 9 107,556,633 (GRCm39) splice site probably null
R0730:Gnat1 UTSW 9 107,556,662 (GRCm39) missense probably damaging 1.00
R1054:Gnat1 UTSW 9 107,554,638 (GRCm39) missense probably damaging 1.00
R1268:Gnat1 UTSW 9 107,553,076 (GRCm39) unclassified probably benign
R1440:Gnat1 UTSW 9 107,554,164 (GRCm39) missense probably damaging 1.00
R1824:Gnat1 UTSW 9 107,553,774 (GRCm39) missense probably damaging 1.00
R4964:Gnat1 UTSW 9 107,554,433 (GRCm39) missense probably benign 0.05
R4966:Gnat1 UTSW 9 107,554,433 (GRCm39) missense probably benign 0.05
R6355:Gnat1 UTSW 9 107,554,623 (GRCm39) missense probably benign 0.03
R7035:Gnat1 UTSW 9 107,553,827 (GRCm39) unclassified probably benign
R7218:Gnat1 UTSW 9 107,553,184 (GRCm39) missense possibly damaging 0.85
R9439:Gnat1 UTSW 9 107,553,511 (GRCm39) missense
Posted On 2013-12-03