Incidental Mutation 'R2251:Gch1'
ID 241694
Institutional Source Beutler Lab
Gene Symbol Gch1
Ensembl Gene ENSMUSG00000037580
Gene Name GTP cyclohydrolase 1
Synonyms GTPCH, GTP-CH
MMRRC Submission 040251-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.913) question?
Stock # R2251 (G1)
Quality Score 142
Status Not validated
Chromosome 14
Chromosomal Location 47391352-47426870 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 47426798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089959]
AlphaFold Q05915
Predicted Effect probably benign
Transcript: ENSMUST00000089959
SMART Domains Protein: ENSMUSP00000087405
Gene: ENSMUSG00000037580

DomainStartEndE-ValueType
Pfam:GTP_cyclohydroI 62 240 4e-78 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display bradycardia, reduced L-DOPA levels and embryonic lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Abl1 T A 2: 31,669,131 (GRCm39) V170E probably damaging Het
Akap13 C T 7: 75,389,225 (GRCm39) T2381M possibly damaging Het
Armc8 T A 9: 99,384,653 (GRCm39) probably null Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Fam186a T C 15: 99,842,978 (GRCm39) T1089A probably benign Het
Fgb T G 3: 82,950,591 (GRCm39) T388P probably damaging Het
Fndc1 G A 17: 7,972,439 (GRCm39) R1498W probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
H2-M10.1 A C 17: 36,636,498 (GRCm39) L102R probably damaging Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
Mbtps2 A T X: 156,342,029 (GRCm39) F270L probably benign Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
N4bp2 G A 5: 65,964,071 (GRCm39) V707I probably damaging Het
Nav2 A G 7: 49,103,025 (GRCm39) K608E probably damaging Het
Nfix T C 8: 85,442,799 (GRCm39) D458G probably benign Het
Ngdn T C 14: 55,260,852 (GRCm39) probably null Het
Nr3c1 G T 18: 39,619,804 (GRCm39) T161K probably benign Het
Or2n1e C T 17: 38,585,794 (GRCm39) A44V probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or52e15 A T 7: 104,645,802 (GRCm39) M103K probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Pbld2 G T 10: 62,860,384 (GRCm39) probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Pwp2 T A 10: 78,016,922 (GRCm39) Q266L probably benign Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Scn8a A G 15: 100,914,987 (GRCm39) I1184V probably benign Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Smim11 T C 16: 92,107,716 (GRCm39) Y14H probably benign Het
Spata17 A T 1: 186,780,670 (GRCm39) L359Q possibly damaging Het
Spn T C 7: 126,736,331 (GRCm39) K59E probably benign Het
Tap2 A G 17: 34,430,928 (GRCm39) S343G probably damaging Het
Tcp11l2 T C 10: 84,440,933 (GRCm39) probably null Het
Tlr11 T A 14: 50,598,249 (GRCm39) N78K probably benign Het
Tm9sf2 T A 14: 122,377,143 (GRCm39) S224T probably benign Het
Trpm1 G A 7: 63,859,724 (GRCm39) G261D probably damaging Het
Tut4 T A 4: 108,377,405 (GRCm39) D938E probably damaging Het
Usp3 T C 9: 66,469,860 (GRCm39) D87G probably damaging Het
Vmn1r189 T C 13: 22,286,718 (GRCm39) K40E probably damaging Het
Vps45 A T 3: 95,964,352 (GRCm39) D56E probably benign Het
Vstm2a C A 11: 16,318,273 (GRCm39) Q231K probably benign Het
Zfp575 A T 7: 24,285,015 (GRCm39) C209S probably damaging Het
Zfp768 T C 7: 126,943,550 (GRCm39) T193A probably benign Het
Zfp867 T A 11: 59,356,319 (GRCm39) R38* probably null Het
Other mutations in Gch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB004:Gch1 UTSW 14 47,393,380 (GRCm39) missense probably damaging 1.00
BB014:Gch1 UTSW 14 47,393,380 (GRCm39) missense probably damaging 1.00
R2253:Gch1 UTSW 14 47,426,798 (GRCm39) start gained probably benign
R4201:Gch1 UTSW 14 47,393,260 (GRCm39) missense probably benign 0.00
R5422:Gch1 UTSW 14 47,394,906 (GRCm39) missense probably damaging 1.00
R6950:Gch1 UTSW 14 47,426,723 (GRCm39) start codon destroyed probably null
R7803:Gch1 UTSW 14 47,426,418 (GRCm39) missense probably benign 0.00
R7927:Gch1 UTSW 14 47,393,380 (GRCm39) missense probably damaging 1.00
R9211:Gch1 UTSW 14 47,426,519 (GRCm39) missense probably damaging 1.00
R9568:Gch1 UTSW 14 47,426,637 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGTGAAGTACTGCATGGCG -3'
(R):5'- AGATCCATGACGCAAGAGGC -3'

Sequencing Primer
(F):5'- CCAGTTTGGGGAGGTTCACC -3'
(R):5'- GCTCCGGCCAATGAAAATATCTCG -3'
Posted On 2014-10-16