Incidental Mutation 'R5915:Gulo'
ID 461283
Institutional Source Beutler Lab
Gene Symbol Gulo
Ensembl Gene ENSMUSG00000034450
Gene Name gulonolactone (L-) oxidase
Synonyms L-gulono-gamma-lactone oxidase, sfx
MMRRC Submission 044112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R5915 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 65986786-66009207 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66008121 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 8 (V8D)
Ref Sequence ENSEMBL: ENSMUSP00000060912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059970]
AlphaFold P58710
Predicted Effect probably benign
Transcript: ENSMUST00000059970
AA Change: V8D

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: V8D

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (60/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,667,163 V940E probably damaging Het
Adgrg7 A T 16: 56,730,385 probably null Het
Alox12e T C 11: 70,318,224 I399V possibly damaging Het
Apoa5 C A 9: 46,269,309 Q42K probably damaging Het
Arfgap1 A G 2: 180,978,422 Y243C possibly damaging Het
Arhgap12 A G 18: 6,037,016 probably null Het
Arl16 G A 11: 120,466,605 probably benign Het
Atp8b5 A G 4: 43,370,577 D951G probably damaging Het
Babam2 T A 5: 31,785,611 L80Q probably damaging Het
Celsr1 C T 15: 85,937,975 V1714I probably benign Het
Celsr1 C T 15: 86,030,349 R1141H probably damaging Het
Cep295 A G 9: 15,341,479 L351P probably damaging Het
Dlc1 T A 8: 36,938,675 probably benign Het
Dpy30 G T 17: 74,315,911 D25E probably benign Het
Drosha T C 15: 12,935,066 W998R probably damaging Het
Fibp A G 19: 5,463,616 D220G possibly damaging Het
Grm3 C T 5: 9,511,927 C641Y probably damaging Het
Ifrd1 A T 12: 40,213,096 C164S possibly damaging Het
Jam2 G A 16: 84,809,407 S103N probably benign Het
Krtap17-1 T C 11: 99,993,618 T108A unknown Het
Man2a2 A G 7: 80,360,921 F774S probably benign Het
Map1b G A 13: 99,430,331 R1961W unknown Het
Mib2 A G 4: 155,656,051 probably benign Het
Mr1 A T 1: 155,136,788 F127I probably damaging Het
Mrgprb2 A G 7: 48,552,806 I57T probably benign Het
Ncan G T 8: 70,098,081 Y1154* probably null Het
Nfx1 T A 4: 40,977,285 S320T probably benign Het
Nlrp4f A G 13: 65,187,555 L740P probably damaging Het
Nprl2 T C 9: 107,545,078 probably benign Het
Olfr1350 A T 7: 6,570,173 I61F probably benign Het
Opn1sw A G 6: 29,379,755 probably null Het
Palld A G 8: 61,533,352 probably null Het
Phf14 T A 6: 11,933,727 M196K possibly damaging Het
Rnf145 T C 11: 44,542,722 probably null Het
Sbf2 A T 7: 110,378,096 C610* probably null Het
Sec24a C T 11: 51,756,137 A13T probably benign Het
Smim8 TCTCCTC TCTC 4: 34,769,010 probably benign Het
Sox8 A C 17: 25,567,469 L420R probably damaging Het
Sry C G Y: 2,662,612 Q349H unknown Het
Sspo A G 6: 48,464,596 D1889G probably benign Het
Sspo A T 6: 48,491,484 H4382L possibly damaging Het
Tmem65 T C 15: 58,790,188 I141V probably damaging Het
Tpr A T 1: 150,425,649 T1329S probably benign Het
Trim17 C T 11: 58,968,562 R201W probably damaging Het
Trim3 A G 7: 105,617,975 L399P possibly damaging Het
Trim7 A G 11: 48,845,650 D277G possibly damaging Het
Vstm2b A G 7: 40,902,683 N153S possibly damaging Het
Wnk2 G T 13: 49,078,085 Q786K probably damaging Het
Wnk4 A G 11: 101,263,894 *286W probably null Het
Xpot A T 10: 121,615,093 L134Q probably damaging Het
Ylpm1 C T 12: 85,040,886 P1148L probably damaging Het
Zc3h7a G A 16: 11,164,602 Q20* probably null Het
Zfp599 C T 9: 22,249,834 C345Y probably damaging Het
Other mutations in Gulo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Gulo APN 14 66005949 missense probably damaging 1.00
IGL01736:Gulo APN 14 65996876 missense probably benign 0.24
R0599:Gulo UTSW 14 65990441 missense probably damaging 1.00
R2014:Gulo UTSW 14 66009047 start codon destroyed probably benign
R2058:Gulo UTSW 14 65991159 missense possibly damaging 0.51
R2079:Gulo UTSW 14 65990383 missense probably damaging 1.00
R2405:Gulo UTSW 14 65991028 critical splice donor site probably null
R4196:Gulo UTSW 14 65988253 missense possibly damaging 0.49
R4807:Gulo UTSW 14 65990384 missense probably benign 0.00
R5341:Gulo UTSW 14 65988258 missense probably benign 0.12
R5913:Gulo UTSW 14 66000021 critical splice acceptor site probably null
R6328:Gulo UTSW 14 66002631 missense probably damaging 1.00
R6628:Gulo UTSW 14 66004170 missense probably benign 0.00
R7725:Gulo UTSW 14 66008073 missense probably damaging 0.99
R7935:Gulo UTSW 14 65999839 missense probably benign
R8720:Gulo UTSW 14 65987625 missense probably benign 0.01
R8940:Gulo UTSW 14 65997591 missense probably benign 0.04
R9458:Gulo UTSW 14 65997594 missense probably benign 0.01
R9716:Gulo UTSW 14 65996899 missense probably benign 0.00
R9746:Gulo UTSW 14 65988181 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACATTACAACAGGCTGCGGAG -3'
(R):5'- TGGCCCTTGACCTAAGAACC -3'

Sequencing Primer
(F):5'- GGAAGAAGAGCCTTGCCTTTACC -3'
(R):5'- GGCCCTTGACCTAAGAACCATAGTAG -3'
Posted On 2017-02-28