Incidental Mutation 'IGL01419:Gnat1'
ID 80358
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 # IGL01419
Quality Score
Status
Chromosome 9
Chromosomal Location 107551636-107556833 bp(-) (GRCm39)
Type of Mutation splice site (2984 bp from exon)
DNA Base Change (assembly) C to T at 107556633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010205] [ENSMUST00000080560] [ENSMUST00000192271] [ENSMUST00000192727] [ENSMUST00000194039]
AlphaFold P20612
Predicted Effect probably benign
Transcript: ENSMUST00000010205
SMART Domains Protein: ENSMUSP00000010205
Gene: ENSMUSG00000034837

DomainStartEndE-ValueType
G_alpha 9 349 5.13e-223 SMART
Predicted Effect probably null
Transcript: ENSMUST00000080560
SMART Domains Protein: ENSMUSP00000079400
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 57 498 5.46e-206 SMART
PSI 516 568 1.87e-12 SMART
IGc2 586 654 3.79e-4 SMART
low complexity region 673 695 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192157
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 probably null
Transcript: ENSMUST00000192727
SMART Domains Protein: ENSMUSP00000141865
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 57 529 3.31e-205 SMART
PSI 547 599 1.87e-12 SMART
IGc2 617 685 3.79e-4 SMART
low complexity region 704 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193188
Predicted Effect probably benign
Transcript: ENSMUST00000194039
SMART Domains Protein: ENSMUSP00000142221
Gene: ENSMUSG00000034684

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sema 57 185 2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195849
Predicted Effect probably benign
Transcript: ENSMUST00000194424
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,327,526 (GRCm39) T672S probably damaging Het
Adamts14 A T 10: 61,041,321 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,705,277 (GRCm39) E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 (GRCm39) R584G probably damaging Het
Apob A T 12: 8,052,251 (GRCm39) I1218F probably damaging Het
Atp5f1a T C 18: 77,865,233 (GRCm39) S52P probably damaging Het
B4galnt3 A G 6: 120,192,351 (GRCm39) S462P possibly damaging Het
Bdkrb1 A G 12: 105,571,040 (GRCm39) H202R possibly damaging Het
Bltp1 T C 3: 37,102,270 (GRCm39) S1323P probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfhr4 T C 1: 139,667,382 (GRCm39) probably null Het
Chuk A T 19: 44,085,420 (GRCm39) I242K probably damaging Het
Csde1 A G 3: 102,946,086 (GRCm39) T27A probably damaging Het
D930048N14Rik C T 11: 51,545,603 (GRCm39) probably benign Het
Depdc7 A T 2: 104,552,455 (GRCm39) Y451N possibly damaging Het
Diaph3 C A 14: 87,202,989 (GRCm39) G623* probably null Het
Dlc1 T C 8: 37,317,371 (GRCm39) T435A probably benign Het
Dock8 A G 19: 25,096,816 (GRCm39) S575G probably benign Het
Fbxw22 T A 9: 109,210,790 (GRCm39) Y407F probably benign Het
Fzd4 C A 7: 89,056,943 (GRCm39) A330E probably damaging Het
Gm17415 A G 1: 93,349,672 (GRCm39) probably benign Het
Gtf3c4 T C 2: 28,725,081 (GRCm39) Y76C probably damaging Het
Heatr5b G A 17: 79,103,939 (GRCm39) H1079Y probably benign Het
Helz T G 11: 107,577,340 (GRCm39) I1897S unknown Het
Hspa12a T C 19: 58,816,681 (GRCm39) probably null Het
Kcne1 G T 16: 92,145,534 (GRCm39) F103L probably benign Het
Lrrc20 A T 10: 61,383,874 (GRCm39) S94C probably damaging Het
Lrrc8a A G 2: 30,147,111 (GRCm39) T642A probably benign Het
Ly6g5b A G 17: 35,333,494 (GRCm39) L106P probably benign Het
Lyst A G 13: 13,810,423 (GRCm39) S698G probably benign Het
Ndrg1 A G 15: 66,802,900 (GRCm39) V334A probably benign Het
Neb A T 2: 52,116,545 (GRCm39) Y964* probably null Het
Or4c123 T C 2: 89,126,689 (GRCm39) probably benign Het
Or8k3 A T 2: 86,058,973 (GRCm39) I114N possibly damaging Het
Parp10 A G 15: 76,125,588 (GRCm39) F497L probably damaging Het
Pdss1 A G 2: 22,825,589 (GRCm39) M343V possibly damaging Het
Phactr3 C T 2: 177,920,855 (GRCm39) T231I probably benign Het
Plekhh2 A T 17: 84,890,980 (GRCm39) probably benign Het
Ppp1r12c A C 7: 4,489,351 (GRCm39) probably null Het
Prdm2 G T 4: 142,860,218 (GRCm39) P1024H probably damaging Het
Prkacb A T 3: 146,461,448 (GRCm39) M1K probably null Het
Prkdc C A 16: 15,653,030 (GRCm39) P3835Q probably damaging Het
Rps27a T C 11: 29,496,353 (GRCm39) T87A probably benign Het
Ryr2 T A 13: 11,814,723 (GRCm39) E683V possibly damaging Het
Sbk2 A G 7: 4,960,528 (GRCm39) L214P probably damaging Het
Sema4g A G 19: 44,985,835 (GRCm39) S250G probably benign Het
Slc27a6 T A 18: 58,742,281 (GRCm39) D498E probably benign Het
Tarbp1 T C 8: 127,154,894 (GRCm39) D1410G probably benign Het
Tas2r134 T A 2: 51,517,759 (GRCm39) Y79* probably null Het
Tie1 T C 4: 118,333,295 (GRCm39) D857G probably damaging Het
Tnk2 A G 16: 32,499,498 (GRCm39) N432S probably damaging Het
Tubg2 C A 11: 101,049,883 (GRCm39) D176E probably benign Het
Ugt2b34 A T 5: 87,039,264 (GRCm39) W466R probably damaging Het
Usp47 T A 7: 111,687,118 (GRCm39) M692K possibly damaging Het
Vmn2r106 T C 17: 20,499,807 (GRCm39) K143E probably benign Het
Vmn2r118 G A 17: 55,900,000 (GRCm39) L635F probably benign Het
Vmn2r16 C T 5: 109,510,267 (GRCm39) probably benign Het
Vmn2r76 A T 7: 85,874,910 (GRCm39) M689K probably benign Het
Xkr6 T C 14: 64,056,325 (GRCm39) Y79H probably benign Het
Zdhhc6 A G 19: 55,298,186 (GRCm39) F224L probably benign Het
Zfp493 T G 13: 67,934,921 (GRCm39) I291M probably benign Het
Other mutations in Gnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Gnat1 APN 9 107,553,500 (GRCm39) missense possibly damaging 0.56
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 2013-11-05