Incidental Mutation 'R6656:Gngt1'
ID 526617
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 044777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6656 (G1)
Quality Score 219.009
Status Validated
Chromosome 6
Chromosomal Location 3993792-3997436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3994246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 8 (D8G)
Ref Sequence ENSEMBL: ENSMUSP00000031673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031673]
AlphaFold Q61012
Predicted Effect possibly damaging
Transcript: ENSMUST00000031673
AA Change: D8G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031673
Gene: ENSMUSG00000029663
AA Change: D8G

DomainStartEndE-ValueType
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: 99.7%
  • 10x: 98.4%
  • 20x: 95.8%
Validation Efficiency 97% (35/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T C 1: 179,581,078 (GRCm39) N1708S probably benign Het
Ahnak2 C T 12: 112,748,991 (GRCm39) M285I probably benign Het
Angptl1 A T 1: 156,684,806 (GRCm39) D325V probably damaging Het
Anln A T 9: 22,262,298 (GRCm39) V931E probably damaging Het
Ascc3 C T 10: 50,526,021 (GRCm39) R578* probably null Het
B3galnt2 C T 13: 14,150,161 (GRCm39) A168V probably benign Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cd22 T C 7: 30,577,182 (GRCm39) I42V probably benign Het
Cyp2b19 C T 7: 26,466,280 (GRCm39) T361I probably benign Het
D930048N14Rik C A 11: 51,544,576 (GRCm39) probably benign Het
Ehf T C 2: 103,113,928 (GRCm39) N23S probably damaging Het
Eif2ak3 T A 6: 70,860,699 (GRCm39) I425N probably damaging Het
Fbxo4 C T 15: 4,005,305 (GRCm39) V192M probably damaging Het
Gm21190 T C 5: 15,730,849 (GRCm39) Q169R possibly damaging Het
Ift140 T C 17: 25,251,147 (GRCm39) L31P probably damaging Het
Keg1 C T 19: 12,686,994 (GRCm39) Q8* probably null Het
Lama3 T A 18: 12,682,283 (GRCm39) M1083K possibly damaging Het
Lrp1b A T 2: 40,527,876 (GRCm39) Y68* probably null Het
Lyz3 A G 10: 117,071,534 (GRCm39) V115A probably benign Het
Mctp1 A T 13: 77,178,055 (GRCm39) K947N probably damaging Het
Muc5ac A G 7: 141,357,065 (GRCm39) Y1113C probably damaging Het
Myb C T 10: 21,028,844 (GRCm39) V85M probably damaging Het
Npas2 T G 1: 39,401,029 (GRCm39) S798A unknown Het
Or13a21 G T 7: 139,999,517 (GRCm39) H56Q probably damaging Het
Orc2 A G 1: 58,532,818 (GRCm39) probably null Het
Parpbp T C 10: 87,946,175 (GRCm39) T415A probably benign Het
Pcdha3 T C 18: 37,080,875 (GRCm39) V539A probably benign Het
Piwil4 T C 9: 14,621,230 (GRCm39) E601G probably damaging Het
Pramel51 A T 12: 88,142,763 (GRCm39) L285Q possibly damaging Het
Ptpn3 T A 4: 57,205,905 (GRCm39) I696F probably damaging Het
Sec63 C T 10: 42,692,379 (GRCm39) Q617* probably null Het
Sgip1 C A 4: 102,762,765 (GRCm39) probably benign Het
Sirpd T C 3: 15,385,558 (GRCm39) T115A probably damaging Het
Tktl2 T C 8: 66,965,381 (GRCm39) V313A probably benign Het
Tmem63b C A 17: 45,978,634 (GRCm39) R325L probably benign Het
Ttn C T 2: 76,539,700 (GRCm39) G34429R probably damaging 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
R6158:Gngt1 UTSW 6 3,994,311 (GRCm39) nonsense probably null
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
(F):5'- TCCCTGGTAAGTGCAAAGC -3'
(R):5'- CCAAAATGTCTCCATGCCTTG -3'

Sequencing Primer
(F):5'- CCTGGTAAGTGCAAAGCAGAGG -3'
(R):5'- CACTTGGATCGGGAAAACTAGCTTTC -3'
Posted On 2018-07-23