Incidental Mutation 'R7725:Gulo'
ID 595463
Institutional Source Beutler Lab
Gene Symbol Gulo
Ensembl Gene ENSMUSG00000034450
Gene Name gulonolactone (L-) oxidase
Synonyms sfx, L-gulono-gamma-lactone oxidase
MMRRC Submission 045781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7725 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 66224235-66246656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66245522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
Ref Sequence ENSEMBL: ENSMUSP00000060912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059970]
AlphaFold P58710
Predicted Effect probably damaging
Transcript: ENSMUST00000059970
AA Change: Y24C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:FAD_binding_4 21 156 7.6e-36 PFAM
Pfam:ALO 180 438 2.8e-92 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Homozygotes for spontaneous mutations exhibit impaired growth and mobility, decreased spleen and thymus weights, reduced serum calcium, phosphate, alkaline phosphatase, IGF1, and osteocalcin levels, and small, fragile and histologically abnormal bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 A T 9: 69,387,410 (GRCm39) K6N unknown Het
Arhgap20 T A 9: 51,743,050 (GRCm39) M296K possibly damaging Het
Bdh1 G A 16: 31,256,910 (GRCm39) V20I not run Het
Bop1 A G 15: 76,339,583 (GRCm39) I254T probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cct4 A G 11: 22,940,814 (GRCm39) K21E probably benign Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Clip2 A T 5: 134,546,853 (GRCm39) Y238* probably null Het
Col19a1 A T 1: 24,309,525 (GRCm39) S1043T possibly damaging Het
Ctcf A G 8: 106,390,468 (GRCm39) Y25C probably damaging Het
Dennd4c C T 4: 86,704,330 (GRCm39) R282C probably benign Het
Eef1g T A 19: 8,955,427 (GRCm39) H425Q probably benign Het
Fam131b C T 6: 42,295,476 (GRCm39) A234T probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam187b A G 7: 30,677,139 (GRCm39) D216G possibly damaging Het
Gabra1 A T 11: 42,026,270 (GRCm39) Y341N possibly damaging Het
Glb1l3 T A 9: 26,739,659 (GRCm39) probably null Het
Gm3667 T A 14: 18,271,599 (GRCm39) Q52L probably damaging Het
Gpr179 C T 11: 97,242,118 (GRCm39) R242H probably damaging Het
Hectd4 A T 5: 121,358,680 (GRCm39) E49V unknown Het
Htra4 A G 8: 25,527,169 (GRCm39) S209P possibly damaging Het
Lmntd1 A G 6: 145,489,196 (GRCm39) S22P probably benign Het
Lypd8l A T 11: 58,499,325 (GRCm39) N164K probably benign Het
Med12l A G 3: 59,163,413 (GRCm39) K1347E probably damaging Het
Mrc1 C A 2: 14,284,788 (GRCm39) D592E probably benign Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Ncor2 A G 5: 125,100,630 (GRCm39) V1316A Het
Odad1 T A 7: 45,597,835 (GRCm39) S582T probably damaging Het
Or2t43 A G 11: 58,457,593 (GRCm39) Y193H probably damaging Het
Or2y10 A T 11: 49,455,359 (GRCm39) I204L probably benign Het
Or5t16 T C 2: 86,819,323 (GRCm39) I66V probably benign Het
Serpina6 A T 12: 103,614,936 (GRCm39) Y303* probably null Het
Shld2 T G 14: 33,990,661 (GRCm39) T82P possibly damaging Het
Shroom3 T C 5: 93,089,512 (GRCm39) L754P probably benign Het
Skint5 C A 4: 113,685,099 (GRCm39) L539F unknown Het
St3gal4 C A 9: 34,964,375 (GRCm39) R209L possibly damaging Het
Tex14 A C 11: 87,385,868 (GRCm39) T243P probably damaging Het
Ttc12 T A 9: 49,351,602 (GRCm39) M632L probably benign Het
Ttn T C 2: 76,738,116 (GRCm39) E4187G unknown Het
Txk G A 5: 72,864,900 (GRCm39) A379V probably damaging Het
Wdr43 A G 17: 71,923,338 (GRCm39) Y28C probably benign Het
Zfp1005 A G 2: 150,110,468 (GRCm39) Y386C unknown Het
Zfp40 A G 17: 23,397,251 (GRCm39) V82A probably benign Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Other mutations in Gulo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Gulo APN 14 66,243,398 (GRCm39) missense probably damaging 1.00
IGL01736:Gulo APN 14 66,234,325 (GRCm39) missense probably benign 0.24
R0599:Gulo UTSW 14 66,227,890 (GRCm39) missense probably damaging 1.00
R2014:Gulo UTSW 14 66,246,496 (GRCm39) start codon destroyed probably benign
R2058:Gulo UTSW 14 66,228,608 (GRCm39) missense possibly damaging 0.51
R2079:Gulo UTSW 14 66,227,832 (GRCm39) missense probably damaging 1.00
R2405:Gulo UTSW 14 66,228,477 (GRCm39) critical splice donor site probably null
R4196:Gulo UTSW 14 66,225,702 (GRCm39) missense possibly damaging 0.49
R4807:Gulo UTSW 14 66,227,833 (GRCm39) missense probably benign 0.00
R5341:Gulo UTSW 14 66,225,707 (GRCm39) missense probably benign 0.12
R5913:Gulo UTSW 14 66,237,470 (GRCm39) critical splice acceptor site probably null
R5915:Gulo UTSW 14 66,245,570 (GRCm39) missense probably benign 0.29
R6328:Gulo UTSW 14 66,240,080 (GRCm39) missense probably damaging 1.00
R6628:Gulo UTSW 14 66,241,619 (GRCm39) missense probably benign 0.00
R7935:Gulo UTSW 14 66,237,288 (GRCm39) missense probably benign
R8720:Gulo UTSW 14 66,225,074 (GRCm39) missense probably benign 0.01
R8940:Gulo UTSW 14 66,235,040 (GRCm39) missense probably benign 0.04
R9458:Gulo UTSW 14 66,235,043 (GRCm39) missense probably benign 0.01
R9716:Gulo UTSW 14 66,234,348 (GRCm39) missense probably benign 0.00
R9746:Gulo UTSW 14 66,225,630 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACATTACAACAGGCTGCGG -3'
(R):5'- CCATAGTAGCCAAAGGGAGC -3'

Sequencing Primer
(F):5'- GAGCAGACCTGGAGCTGG -3'
(R):5'- GTGCTGTGGCCATGTCCTC -3'
Posted On 2019-11-12