Incidental Mutation 'R4807:Gulo'
ID 370790
Institutional Source Beutler Lab
Gene Symbol Gulo
Ensembl Gene ENSMUSG00000034450
Gene Name gulonolactone (L-) oxidase
Synonyms sfx, L-gulono-gamma-lactone oxidase
MMRRC Submission 042426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R4807 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 66224235-66246656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66227833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 366 (M366I)
Ref Sequence ENSEMBL: ENSMUSP00000060912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059970]
AlphaFold P58710
Predicted Effect probably benign
Transcript: ENSMUST00000059970
AA Change: M366I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: M366I

DomainStartEndE-ValueType
Pfam:FAD_binding_4 21 156 7.6e-36 PFAM
Pfam:ALO 180 438 2.8e-92 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (86/88)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,139,832 (GRCm39) A1499V probably damaging Het
Agap3 T A 5: 24,682,114 (GRCm39) D386E probably damaging Het
Ahdc1 C A 4: 132,791,624 (GRCm39) T955K possibly damaging Het
Ankrd9 A G 12: 110,943,669 (GRCm39) Y122H probably benign Het
Apc2 G T 10: 80,150,196 (GRCm39) R1721L probably benign Het
Arfgef3 A G 10: 18,522,385 (GRCm39) V547A probably benign Het
Arhgap42 T C 9: 9,046,629 (GRCm39) N203D possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Aspm T A 1: 139,405,657 (GRCm39) F1515I probably damaging Het
Baz1a T C 12: 54,945,267 (GRCm39) T1363A probably benign Het
Cacng3 C T 7: 122,353,732 (GRCm39) A72V probably benign Het
Casp8ap2 T C 4: 32,644,505 (GRCm39) C1193R possibly damaging Het
Ccr3 A G 9: 123,829,334 (GRCm39) Y223C probably damaging Het
Clcn3 C A 8: 61,387,564 (GRCm39) L201F probably damaging Het
Cltc A C 11: 86,591,902 (GRCm39) probably benign Het
Cyp19a1 G T 9: 54,083,930 (GRCm39) T86K possibly damaging Het
Ddx24 A T 12: 103,385,720 (GRCm39) F248L probably damaging Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dync2h1 T C 9: 7,139,422 (GRCm39) I1404M probably benign Het
Emilin2 A T 17: 71,580,443 (GRCm39) V761E probably damaging Het
Endou C T 15: 97,629,113 (GRCm39) C13Y probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Fbxo33 C A 12: 59,265,998 (GRCm39) D90Y probably damaging Het
Fryl A G 5: 73,198,705 (GRCm39) F2641L probably benign Het
Gbp2b A G 3: 142,304,006 (GRCm39) I34V probably benign Het
Ghdc T C 11: 100,661,051 (GRCm39) H38R probably damaging Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr63 A C 4: 25,007,446 (GRCm39) M57L probably benign Het
Gprc5c A G 11: 114,755,324 (GRCm39) S3G probably damaging Het
Grk4 A T 5: 34,909,552 (GRCm39) M539L probably benign Het
Heatr5a T C 12: 51,924,303 (GRCm39) H1970R probably damaging Het
Hmbox1 T C 14: 65,062,998 (GRCm39) probably benign Het
Ighg2b T C 12: 113,267,965 (GRCm39) probably benign Het
Il1b A T 2: 129,212,226 (GRCm39) C9S probably benign Het
Itpkb A T 1: 180,162,440 (GRCm39) probably benign Het
Kcnn1 T A 8: 71,300,822 (GRCm39) H473L probably damaging Het
Kidins220 C T 12: 25,107,284 (GRCm39) S1579L probably damaging Het
Kif1b A T 4: 149,332,378 (GRCm39) probably benign Het
Lyg2 A T 1: 37,950,148 (GRCm39) M60K possibly damaging Het
Mak16 G T 8: 31,656,161 (GRCm39) H107Q probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mastl A G 2: 23,022,855 (GRCm39) S623P probably benign Het
Mccc1 T C 3: 36,039,195 (GRCm39) Y46C probably damaging Het
Mdn1 T G 4: 32,685,651 (GRCm39) probably null Het
Med25 T A 7: 44,534,043 (GRCm39) T31S probably benign Het
Mprip G A 11: 59,648,846 (GRCm39) G850D probably benign Het
Mrpl10 T C 11: 96,932,449 (GRCm39) I8T probably benign Het
Msr1 T C 8: 40,095,668 (GRCm39) probably benign Het
Myo3b T A 2: 69,936,056 (GRCm39) I99N probably damaging Het
Neurod6 A T 6: 55,655,640 (GRCm39) N332K probably damaging Het
Npc1l1 T C 11: 6,168,723 (GRCm39) Y886C probably damaging Het
Nsmaf T C 4: 6,398,542 (GRCm39) probably null Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or5d47 T A 2: 87,804,095 (GRCm39) I305L probably benign Het
Plppr2 A G 9: 21,855,810 (GRCm39) N261S probably damaging Het
Prkar2a T A 9: 108,617,584 (GRCm39) probably benign Het
Pxk G A 14: 8,144,133 (GRCm38) V294M probably damaging Het
Rars1 A G 11: 35,699,973 (GRCm39) F608L possibly damaging Het
Rasa3 A G 8: 13,664,633 (GRCm39) F60L probably damaging Het
Rbm47 C T 5: 66,176,647 (GRCm39) A490T possibly damaging Het
Sardh T C 2: 27,079,539 (GRCm39) I918V probably benign Het
Saxo5 A G 8: 3,529,004 (GRCm39) K193R possibly damaging Het
Sdhc T C 1: 170,963,626 (GRCm39) Y80C probably damaging Het
Selp T A 1: 163,971,505 (GRCm39) M653K probably damaging Het
Slc6a17 T C 3: 107,407,803 (GRCm39) D56G possibly damaging Het
Slco1b2 T C 6: 141,615,195 (GRCm39) S367P probably damaging Het
Spry4 TTGAGGTCC T 18: 38,723,328 (GRCm39) probably null Het
Strip2 T A 6: 29,925,092 (GRCm39) Y143* probably null Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tex30 C A 1: 44,126,118 (GRCm39) V204L possibly damaging Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tmeff2 A C 1: 51,018,546 (GRCm39) N176T probably benign Het
Togaram2 C G 17: 72,004,918 (GRCm39) T324R probably damaging Het
Trpc3 C T 3: 36,688,531 (GRCm39) R836Q probably benign Het
Trpm7 A C 2: 126,673,149 (GRCm39) L535V probably benign Het
Vmn1r213 G A 13: 23,195,775 (GRCm39) W119* probably null Het
Vps29 T G 5: 122,500,951 (GRCm39) V176G probably damaging Het
Vsig10l A G 7: 43,113,173 (GRCm39) T144A possibly damaging Het
Wdr11 T C 7: 129,229,746 (GRCm39) Y844H probably benign Het
Zbp1 A T 2: 173,053,999 (GRCm39) M174K probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp638 G A 6: 83,920,040 (GRCm39) R546H probably damaging Het
Zfp820 A T 17: 22,042,853 (GRCm39) M1K probably null 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
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
R7725:Gulo UTSW 14 66,245,522 (GRCm39) missense probably damaging 0.99
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'- GCCAATAGAGAAAGTGGCCTC -3'
(R):5'- ACTCTGAAGTCTCTCCTGGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCGGAGGGCAGGGAGAAG -3'
Posted On 2016-02-04