Incidental Mutation 'R9439:Gnat1'
ID 713445
Institutional Source Beutler Lab
Gene Symbol Gnat1
Ensembl Gene ENSMUSG00000034837
Gene Name G protein subunit alpha transducin 1
Synonyms transducin, Gnat-1, Tralpha, irdr, Ird2, Ird1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R9439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107551636-107556833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107553511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 249 (I249N)
Ref Sequence ENSEMBL: ENSMUSP00000010205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010205] [ENSMUST00000192271]
AlphaFold P20612
Predicted Effect
SMART Domains Protein: ENSMUSP00000010205
Gene: ENSMUSG00000034837
AA Change: I249N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,048 (GRCm39) E412D probably benign Het
Aak1 T A 6: 86,933,274 (GRCm39) V415D probably damaging Het
Ache A C 5: 137,289,185 (GRCm39) D297A probably damaging Het
Armc9 T C 1: 86,084,687 (GRCm39) I4T possibly damaging Het
Atp8b2 T A 3: 89,851,492 (GRCm39) Y925F Het
Avpr1b T C 1: 131,528,029 (GRCm39) L184P probably damaging Het
Cabin1 G A 10: 75,581,069 (GRCm39) P419L probably damaging Het
Ccdc88c T C 12: 100,884,597 (GRCm39) S1578G probably benign Het
Ccnd2 A T 6: 127,127,617 (GRCm39) C40* probably null Het
Col6a3 A T 1: 90,744,155 (GRCm39) I471N probably damaging Het
Cp A G 3: 20,046,671 (GRCm39) probably null Het
Cyfip2 C T 11: 46,091,668 (GRCm39) R1084Q probably damaging Het
Diaph1 A G 18: 38,029,412 (GRCm39) probably null Het
Dnah6 T C 6: 73,012,330 (GRCm39) N3713S possibly damaging Het
Dot1l G T 10: 80,621,438 (GRCm39) R633L possibly damaging Het
Ehmt1 A T 2: 24,715,030 (GRCm39) M809K probably damaging Het
Fcgbp C A 7: 27,803,436 (GRCm39) A1680E possibly damaging Het
Flt1 A G 5: 147,515,207 (GRCm39) F1072L probably damaging Het
Gm19410 G T 8: 36,248,810 (GRCm39) A549S probably damaging Het
Gm57859 C T 11: 113,583,229 (GRCm39) Q519* probably null Het
Gp2 T C 7: 119,053,433 (GRCm39) Y176C probably damaging Het
Gpc2 G T 5: 138,277,248 (GRCm39) Q60K probably benign Het
Gpsm2 T A 3: 108,610,397 (GRCm39) E21V probably damaging Het
Igkv4-80 T A 6: 68,993,793 (GRCm39) M33L probably benign Het
Il20ra C A 10: 19,618,751 (GRCm39) H66Q probably benign Het
Kap C T 6: 133,828,950 (GRCm39) D61N probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mpp7 A T 18: 7,461,692 (GRCm39) Y60* probably null Het
Neil1 T A 9: 57,051,098 (GRCm39) R294* probably null Het
Nkx6-3 A G 8: 23,643,778 (GRCm39) S60G probably benign Het
Noc2l T A 4: 156,326,130 (GRCm39) S406T possibly damaging Het
Or11m3 T C 15: 98,396,247 (GRCm39) V298A possibly damaging Het
Or14j2 A G 17: 37,885,825 (GRCm39) I163T probably benign Het
Or2h2c A G 17: 37,422,205 (GRCm39) V223A probably damaging Het
Or2t46 T C 11: 58,472,104 (GRCm39) C145R probably benign Het
Or51ac3 T G 7: 103,214,049 (GRCm39) I146L probably benign Het
Or5p81 T C 7: 108,266,626 (GRCm39) M1T probably null Het
Paqr4 A G 17: 23,958,939 (GRCm39) F21L probably damaging Het
Pcdha9 A G 18: 37,131,527 (GRCm39) T199A probably benign Het
Pcdhgb7 T C 18: 37,884,917 (GRCm39) L29P probably benign Het
Pfkl G A 10: 77,831,172 (GRCm39) A323V probably damaging Het
Pik3r4 C A 9: 105,528,041 (GRCm39) P465T probably damaging Het
Pitpnm2 A G 5: 124,274,189 (GRCm39) S307P probably damaging Het
Pitpnm2 A G 5: 124,278,659 (GRCm39) Y191H probably damaging Het
Plod3 G A 5: 137,023,036 (GRCm39) V613I probably benign Het
Prr23a2 C T 9: 98,738,921 (GRCm39) T93I probably damaging Het
Ptk6 T A 2: 180,840,206 (GRCm39) M267L possibly damaging Het
Rabl6 C T 2: 25,492,432 (GRCm39) probably null Het
Ralgapa2 T C 2: 146,254,058 (GRCm39) H787R probably benign Het
Rfx8 T G 1: 39,724,669 (GRCm39) M231L probably benign Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Smpd4 A G 16: 17,459,451 (GRCm39) I625V probably benign Het
Tcf7l1 A G 6: 72,765,740 (GRCm39) S66P probably damaging Het
Tsc22d1 G A 14: 76,743,899 (GRCm39) V1007M probably damaging Het
Tspoap1 C T 11: 87,665,535 (GRCm39) R758C probably damaging Het
Vmn1r210 A C 13: 23,011,397 (GRCm39) H296Q possibly damaging Het
Zfp532 G A 18: 65,818,714 (GRCm39) V857I probably benign Het
Zfyve9 T C 4: 108,501,538 (GRCm39) T593A probably benign Het
Other mutations in Gnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Gnat1 APN 9 107,556,633 (GRCm39) splice site probably null
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
Predicted Primers PCR Primer
(F):5'- TAAGTGTTAGGTCCTGCGGC -3'
(R):5'- CCAAGTGGGACCTGAGTGTTTG -3'

Sequencing Primer
(F):5'- TTAGGTCCTGCGGCAGAAG -3'
(R):5'- ACCTGAGTGTTTGAGAAGGG -3'
Posted On 2022-05-16