Incidental Mutation 'R6158:Gngt1'
ID 489699
Institutional Source Beutler Lab
Gene Symbol Gngt1
Ensembl Gene ENSMUSG00000029663
Gene Name guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
Synonyms G(y)1, Gng1
MMRRC Submission 044305-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6158 (G1)
Quality Score 123.008
Status Validated
Chromosome 6
Chromosomal Location 3993792-3997436 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 3994311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 30 (R30*)
Ref Sequence ENSEMBL: ENSMUSP00000031673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031673]
AlphaFold Q61012
Predicted Effect probably null
Transcript: ENSMUST00000031673
AA Change: R30*
SMART Domains Protein: ENSMUSP00000031673
Gene: ENSMUSG00000029663
AA Change: R30*

G_gamma 9 74 6.3e-23 SMART
GGL 12 74 3.34e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159369
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.5%
  • 20x: 92.6%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice display markedly reduced flash sensitivity of individual retinal rods and gradual retinal photoreceptor degeneration with loss of most rods by 6 months of age. Homozygous knock-in mice expressing geranylgeranylated rod transducin exhibit impaired properties in light adaptation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,217,410 (GRCm39) V793A possibly damaging Het
2900092C05Rik A G 7: 12,246,599 (GRCm39) T32A probably benign Het
Adprhl1 C T 8: 13,274,977 (GRCm39) V594M possibly damaging Het
Ano3 A T 2: 110,496,220 (GRCm39) Y845N probably damaging Het
Arhgap24 A T 5: 103,040,778 (GRCm39) I575L probably benign Het
Aurka A C 2: 172,205,516 (GRCm39) probably null Het
C1qtnf5 A T 9: 44,020,267 (GRCm39) probably benign Het
Cacnb2 A G 2: 14,990,412 (GRCm39) D454G possibly damaging Het
Chchd5 T C 2: 128,972,437 (GRCm39) L87P probably damaging Het
Col7a1 G T 9: 108,793,671 (GRCm39) R1377L unknown Het
Cpne8 A C 15: 90,456,191 (GRCm39) S191A probably damaging Het
Dhx30 A T 9: 109,916,098 (GRCm39) I671N probably damaging Het
Dnah12 A T 14: 26,495,642 (GRCm39) K1423N possibly damaging Het
Dnm3 T C 1: 162,148,556 (GRCm39) M272V probably damaging Het
Fat4 A T 3: 39,037,411 (GRCm39) S3688C possibly damaging Het
Frmpd1 A T 4: 45,285,401 (GRCm39) L1407F probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Gm11565 T A 11: 99,805,744 (GRCm39) C45* probably null Het
Htt T C 5: 35,064,430 (GRCm39) I2943T possibly damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lmo7 T A 14: 102,137,573 (GRCm39) D247E probably benign Het
Mastl G T 2: 23,022,784 (GRCm39) N646K possibly damaging Het
Mei4 G T 9: 81,809,629 (GRCm39) L237F probably damaging Het
Mettl27 C T 5: 134,969,430 (GRCm39) P170S possibly damaging Het
Mgam T A 6: 40,734,648 (GRCm39) I896K probably damaging Het
Mix23 T A 16: 35,910,299 (GRCm39) V118D probably damaging Het
Moxd1 T A 10: 24,160,675 (GRCm39) C443S probably damaging Het
Myo18b A T 5: 113,022,038 (GRCm39) N451K probably benign Het
Myo7b T C 18: 32,121,602 (GRCm39) I768V probably benign Het
Nos1 A C 5: 118,005,639 (GRCm39) I120L probably benign Het
Nsd1 T C 13: 55,393,434 (GRCm39) V345A probably benign Het
Or1j15 A T 2: 36,459,128 (GRCm39) T173S probably benign Het
Or2aj5 C A 16: 19,424,675 (GRCm39) V248F probably damaging Het
Or4c11c T C 2: 88,661,490 (GRCm39) F10L probably damaging Het
Or5t15 A G 2: 86,681,859 (GRCm39) L61P possibly damaging Het
Or8g50 C T 9: 39,648,372 (GRCm39) T87I probably benign Het
Pdzph1 T G 17: 59,280,622 (GRCm39) Q553H probably damaging Het
Piwil1 T A 5: 128,824,940 (GRCm39) L546* probably null Het
Pla2g4f T C 2: 120,131,552 (GRCm39) T724A probably benign Het
Ralgapa2 A T 2: 146,266,596 (GRCm39) M660K possibly damaging Het
Rgsl1 T C 1: 153,679,767 (GRCm39) D103G possibly damaging Het
Rnf186 A G 4: 138,694,565 (GRCm39) D35G probably damaging Het
Rock2 A G 12: 17,004,919 (GRCm39) D424G probably benign Het
Scg2 A T 1: 79,413,117 (GRCm39) D495E probably damaging Het
Slc39a2 G A 14: 52,131,681 (GRCm39) probably null Het
Snrnp48 T A 13: 38,394,212 (GRCm39) Y100* probably null Het
Spaca1 A G 4: 34,029,176 (GRCm39) M99T probably damaging Het
Specc1 T G 11: 62,008,950 (GRCm39) F235L probably damaging Het
St13 A T 15: 81,283,802 (GRCm39) probably null Het
Swap70 T A 7: 109,869,230 (GRCm39) M341K probably damaging Het
Synj2 A G 17: 6,036,487 (GRCm39) D67G probably benign Het
Tmem135 T A 7: 88,805,652 (GRCm39) I251F probably benign Het
Tmem87a A T 2: 120,190,584 (GRCm39) probably null Het
Tom1l2 C T 11: 60,123,753 (GRCm39) D128N probably damaging Het
Tpx2 C A 2: 152,715,024 (GRCm39) H82N probably benign Het
Trip12 A T 1: 84,738,733 (GRCm39) C738S possibly damaging Het
Ttyh1 A G 7: 4,128,561 (GRCm39) T153A probably benign Het
Utrn C T 10: 12,566,566 (GRCm39) G1199S probably benign Het
Vmn1r8 T A 6: 57,013,274 (GRCm39) N108K probably benign Het
Vmn2r63 T A 7: 42,583,104 (GRCm39) D37V probably damaging Het
Vwce C T 19: 10,621,585 (GRCm39) R206C possibly damaging Het
Wrn G T 8: 33,809,200 (GRCm39) F265L probably damaging Het
Zfp472 T A 17: 33,197,363 (GRCm39) C479* probably null Het
Zfp831 A T 2: 174,485,651 (GRCm39) T109S possibly damaging Het
Znfx1 G T 2: 166,898,646 (GRCm39) Q93K probably benign Het
Other mutations in Gngt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1898:Gngt1 UTSW 6 3,996,724 (GRCm39) missense possibly damaging 0.96
R4434:Gngt1 UTSW 6 3,994,282 (GRCm39) missense probably benign 0.01
R6656:Gngt1 UTSW 6 3,994,246 (GRCm39) missense possibly damaging 0.90
R6917:Gngt1 UTSW 6 3,996,680 (GRCm39) missense probably benign 0.25
R7019:Gngt1 UTSW 6 3,994,088 (GRCm39) critical splice donor site probably null
R8475:Gngt1 UTSW 6 3,994,262 (GRCm39) missense probably benign 0.06
R9179:Gngt1 UTSW 6 3,994,246 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-10-10