Incidental Mutation 'R1824:Gnat1'
ID 206688
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 039852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R1824 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107551636-107556833 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107553774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 226 (Y226H)
Ref Sequence ENSEMBL: ENSMUSP00000010205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010205] [ENSMUST00000080560] [ENSMUST00000192271]
AlphaFold P20612
Predicted Effect probably damaging
Transcript: ENSMUST00000010205
AA Change: Y226H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010205
Gene: ENSMUSG00000034837
AA Change: Y226H

DomainStartEndE-ValueType
G_alpha 9 349 5.13e-223 SMART
Predicted Effect probably benign
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 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: ENSMUST00000195849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194802
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.2%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,708,086 (GRCm39) noncoding transcript Het
Aadacl2fm1 C A 3: 59,840,001 (GRCm39) Y24* probably null Het
Abl1 T A 2: 31,690,656 (GRCm39) M706K probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Acd A G 8: 106,427,122 (GRCm39) L96P probably damaging Het
Arsi T A 18: 61,045,369 (GRCm39) W20R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asic3 C T 5: 24,618,749 (GRCm39) Q14* probably null Het
Asxl3 T A 18: 22,655,125 (GRCm39) I1045N probably damaging Het
Atr T C 9: 95,818,474 (GRCm39) I2149T probably damaging Het
Begain A G 12: 108,999,025 (GRCm39) probably null Het
Brca2 C T 5: 150,460,387 (GRCm39) T554I possibly damaging Het
Brd10 T C 19: 29,693,814 (GRCm39) N1960S probably damaging Het
C1s2 C T 6: 124,612,641 (GRCm39) V11I probably benign Het
Cacna1i T C 15: 80,260,990 (GRCm39) F1333L possibly damaging Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cep164 C T 9: 45,690,226 (GRCm39) V1367M probably damaging Het
Cfap46 C A 7: 139,219,518 (GRCm39) A1316S probably benign Het
Cic T C 7: 24,987,691 (GRCm39) S553P probably damaging Het
Cilk1 T A 9: 78,065,144 (GRCm39) D351E probably benign Het
Clcn2 C T 16: 20,534,712 (GRCm39) A12T probably benign Het
Clip2 A G 5: 134,532,081 (GRCm39) Y540H probably benign Het
Coil A G 11: 88,872,923 (GRCm39) N428S possibly damaging Het
Cpxm1 A C 2: 130,237,617 (GRCm39) V196G probably damaging Het
Cr2 A G 1: 194,839,624 (GRCm39) V601A probably damaging Het
Cyp3a25 T A 5: 145,921,763 (GRCm39) K390N probably damaging Het
Dclre1a T C 19: 56,535,150 (GRCm39) probably null Het
Dennd4a G C 9: 64,766,640 (GRCm39) probably null Het
Dlg5 T C 14: 24,199,512 (GRCm39) H1464R probably benign Het
Dmac2 T G 7: 25,324,217 (GRCm39) M225R probably damaging Het
Dnah8 T C 17: 30,950,154 (GRCm39) V1991A possibly damaging Het
Dscam A C 16: 96,626,781 (GRCm39) V376G probably benign Het
Dync1li1 A G 9: 114,538,252 (GRCm39) D203G probably benign Het
Eva1c A G 16: 90,663,331 (GRCm39) T22A probably benign Het
Fam110b A G 4: 5,799,029 (GRCm39) D149G probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Fsip1 T C 2: 118,063,389 (GRCm39) D360G probably damaging Het
Galnt14 T C 17: 74,016,934 (GRCm39) T41A probably benign Het
Gdf3 T A 6: 122,586,921 (GRCm39) Q2L probably benign Het
Glrp1 A G 1: 88,437,511 (GRCm39) probably null Het
Gm3336 C G 8: 71,173,066 (GRCm39) probably null Het
Gm8674 C T 13: 50,054,844 (GRCm39) noncoding transcript Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
H1f8 A G 6: 115,925,719 (GRCm39) Y1C probably null Het
Igfbpl1 C A 4: 45,826,406 (GRCm39) A130S probably benign Het
Impdh1 T A 6: 29,205,087 (GRCm39) D261V probably benign Het
Itgal T A 7: 126,913,232 (GRCm39) S610T probably damaging Het
Jcad A G 18: 4,649,293 (GRCm39) T55A probably benign Het
Jup G A 11: 100,264,963 (GRCm39) R663* probably null Het
Kalrn C T 16: 34,114,585 (GRCm39) G556D probably damaging Het
Krt81 T C 15: 101,358,020 (GRCm39) E411G probably damaging Het
Lcat T C 8: 106,666,520 (GRCm39) E334G probably damaging Het
Lhcgr T C 17: 89,057,585 (GRCm39) E302G probably benign Het
Magi1 A G 6: 93,676,620 (GRCm39) V913A possibly damaging Het
Mrpl19 A T 6: 81,941,060 (GRCm39) probably null Het
Muc4 G T 16: 32,576,307 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a G A 2: 22,401,054 (GRCm39) V600I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Ngef A G 1: 87,430,986 (GRCm39) probably null Het
Nisch A T 14: 30,898,389 (GRCm39) probably benign Het
Nlrp4c G A 7: 6,069,955 (GRCm39) probably null Het
Nup153 A T 13: 46,867,223 (GRCm39) S154T probably damaging Het
Obscn A G 11: 58,885,658 (GRCm39) probably benign Het
Or2t1 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Or4a74 G T 2: 89,439,693 (GRCm39) P251H probably damaging Het
Or6c219 T C 10: 129,781,206 (GRCm39) M242V possibly damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Phf24 G T 4: 42,934,661 (GRCm39) C136F probably damaging Het
Phldb2 A T 16: 45,646,374 (GRCm39) V65E probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Prl8a8 A T 13: 27,692,433 (GRCm39) M186K probably damaging Het
Qars1 T C 9: 108,391,809 (GRCm39) V70A probably damaging Het
Rac1 C T 5: 143,502,980 (GRCm39) V14I probably benign Het
Rapgef5 T A 12: 117,652,419 (GRCm39) probably null Het
Slc16a12 G A 19: 34,648,278 (GRCm39) T405M possibly damaging Het
Slc17a6 A G 7: 51,311,294 (GRCm39) Y336C probably damaging Het
Slc30a9 T C 5: 67,505,395 (GRCm39) L441P probably damaging Het
Slc45a2 T C 15: 11,022,172 (GRCm39) S305P probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Sp1 T G 15: 102,339,438 (GRCm39) S773A possibly damaging Het
Spen C A 4: 141,200,096 (GRCm39) G2821C probably damaging Het
Tagap1 A G 17: 7,223,425 (GRCm39) S424P probably benign Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tfec C T 6: 16,840,467 (GRCm39) probably null Het
Thsd7a A T 6: 12,409,041 (GRCm39) probably null Het
Tnfsf15 C A 4: 63,651,588 (GRCm39) G112V probably benign Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tnxb C T 17: 34,911,307 (GRCm39) R1537* probably null Het
Tpra1 A G 6: 88,888,805 (GRCm39) N329S probably benign Het
Ttc12 A G 9: 49,368,184 (GRCm39) F281S probably damaging Het
Unc79 A G 12: 103,025,579 (GRCm39) N322S probably damaging Het
Unk G T 11: 115,921,268 (GRCm39) probably benign Het
Usp4 G T 9: 108,225,207 (GRCm39) G31W probably damaging Het
Vcan G T 13: 89,853,331 (GRCm39) A543D possibly damaging Het
Vil1 A C 1: 74,457,606 (GRCm39) I80L probably benign Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Vpreb1a A G 16: 16,686,935 (GRCm39) probably null Het
Zbtb6 C T 2: 37,319,829 (GRCm39) C33Y probably damaging Het
Zfp330 A T 8: 83,492,644 (GRCm39) C189* probably null Het
Zfp942 T A 17: 22,147,522 (GRCm39) H369L probably damaging Het
Zfp943 T A 17: 22,211,361 (GRCm39) I149K probably benign Het
Zfyve19 G A 2: 119,042,016 (GRCm39) V162M 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
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
Predicted Primers PCR Primer
(F):5'- AGATGCTGTTGAACAGGTGC -3'
(R):5'- TCCAGCTAGCTTAGGAGGAC -3'

Sequencing Primer
(F):5'- TTGAACAGGTGCAGGCTCTC -3'
(R):5'- CTAGCTTAGGAGGACGGGGG -3'
Posted On 2014-06-23