Incidental Mutation 'R6173:Ch25h'
ID 489162
Institutional Source Beutler Lab
Gene Symbol Ch25h
Ensembl Gene ENSMUSG00000050370
Gene Name cholesterol 25-hydroxylase
Synonyms m25OH
MMRRC Submission 044316-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R6173 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34451183-34452548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34451896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 211 (S211P)
Ref Sequence ENSEMBL: ENSMUSP00000049683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050562]
AlphaFold Q9Z0F5
Predicted Effect probably damaging
Transcript: ENSMUST00000050562
AA Change: S211P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049683
Gene: ENSMUSG00000050370
AA Change: S211P

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
Pfam:FA_hydroxylase 128 263 3.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181777
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased IgG2a and IgA in the sera, lungs, and intestinal mucosa and increased IgG2b and IgG3 in the intestinal mucosa. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T C 3: 126,846,395 (GRCm39) D219G probably damaging Het
Arap2 A T 5: 62,906,965 (GRCm39) I18N probably damaging Het
Baz1b T C 5: 135,271,361 (GRCm39) S1315P probably benign Het
Bbs7 A T 3: 36,646,523 (GRCm39) C432* probably null Het
Bend3 A G 10: 43,385,864 (GRCm39) T86A probably benign Het
Cadm2 C T 16: 66,679,729 (GRCm39) V35I probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Chia1 T C 3: 106,036,338 (GRCm39) probably null Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Dazl A T 17: 50,594,599 (GRCm39) M152K probably benign Het
Dnah17 A G 11: 117,930,772 (GRCm39) S3748P probably damaging Het
Dock2 T C 11: 34,212,388 (GRCm39) K1251R probably null Het
Esr1 T C 10: 4,696,760 (GRCm39) V203A probably damaging Het
F830045P16Rik A G 2: 129,305,588 (GRCm39) I262T probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Fshb T C 2: 106,887,638 (GRCm39) E127G possibly damaging Het
Galk2 A G 2: 125,701,137 (GRCm39) probably benign Het
Gid4 A G 11: 60,323,241 (GRCm39) D111G probably damaging Het
Gm14412 G A 2: 177,006,330 (GRCm39) P522S probably damaging Het
Iqank1 A G 15: 75,917,237 (GRCm39) E290G probably damaging Het
Mfap4 A G 11: 61,376,245 (GRCm39) probably null Het
Mfsd2a A G 4: 122,845,039 (GRCm39) V224A probably benign Het
Mocos A T 18: 24,809,639 (GRCm39) Y414F probably benign Het
Mrto4 T C 4: 139,077,755 (GRCm39) I27V probably benign Het
Muc4 A G 16: 32,554,958 (GRCm39) probably benign Het
Mug1 T A 6: 121,840,752 (GRCm39) I534N probably damaging Het
Mup20 A T 4: 61,972,267 (GRCm39) L7Q unknown Het
Nlrp2 T C 7: 5,340,808 (GRCm39) E2G probably damaging Het
Or11g1 A G 14: 50,651,654 (GRCm39) I218V possibly damaging Het
Or12k7 A G 2: 36,959,091 (GRCm39) Y258C possibly damaging Het
Or2y16 T C 11: 49,335,299 (GRCm39) V207A probably benign Het
Or6z5 C T 7: 6,477,835 (GRCm39) A242V probably damaging Het
Parn T C 16: 13,469,675 (GRCm39) T209A possibly damaging Het
Psip1 T A 4: 83,391,286 (GRCm39) probably null Het
Ptprc A C 1: 137,995,628 (GRCm39) C1157G probably damaging Het
Rad17 A C 13: 100,759,389 (GRCm39) V546G probably benign Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Safb A G 17: 56,904,798 (GRCm39) E124G probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Skint5 T C 4: 113,392,907 (GRCm39) T1242A unknown Het
Slc13a5 C T 11: 72,144,023 (GRCm39) E352K probably benign Het
Sohlh2 G T 3: 55,104,419 (GRCm39) V263F probably benign Het
Strn A G 17: 79,008,298 (GRCm39) Y107H probably damaging Het
Tbx15 G T 3: 99,161,203 (GRCm39) E3* probably null Het
Tespa1 A G 10: 130,183,172 (GRCm39) D39G probably benign Het
Trp73 A T 4: 154,188,798 (GRCm39) D54E probably damaging Het
Ttll5 A T 12: 85,980,151 (GRCm39) S912C probably damaging Het
Utp14b A T 1: 78,643,554 (GRCm39) D484V probably benign Het
Utp14b A C 1: 78,643,557 (GRCm39) N485T probably benign Het
Vmn2r29 T C 7: 7,234,369 (GRCm39) E839G probably benign Het
Vmn2r6 G C 3: 64,467,176 (GRCm39) P108A probably damaging Het
Vps8 T G 16: 21,314,682 (GRCm39) probably null Het
Zfp36l1 A T 12: 80,156,320 (GRCm39) probably null Het
Zfp998 T A 13: 66,579,608 (GRCm39) T292S probably benign Het
Zp3r A T 1: 130,519,305 (GRCm39) probably null Het
Other mutations in Ch25h
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0738:Ch25h UTSW 19 34,451,787 (GRCm39) missense possibly damaging 0.90
R1711:Ch25h UTSW 19 34,451,686 (GRCm39) missense probably benign
R2177:Ch25h UTSW 19 34,452,097 (GRCm39) missense probably damaging 1.00
R2869:Ch25h UTSW 19 34,452,210 (GRCm39) missense probably benign 0.03
R2873:Ch25h UTSW 19 34,452,210 (GRCm39) missense probably benign 0.03
R5558:Ch25h UTSW 19 34,451,863 (GRCm39) missense probably damaging 1.00
R8313:Ch25h UTSW 19 34,452,138 (GRCm39) missense probably benign 0.03
R8897:Ch25h UTSW 19 34,452,441 (GRCm39) missense possibly damaging 0.46
R8958:Ch25h UTSW 19 34,452,414 (GRCm39) missense probably benign 0.14
R9168:Ch25h UTSW 19 34,451,905 (GRCm39) missense probably benign 0.30
R9251:Ch25h UTSW 19 34,451,769 (GRCm39) missense probably damaging 1.00
R9696:Ch25h UTSW 19 34,451,947 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTCTTCTGGATCAAGTGTACAGCG -3'
(R):5'- CCTTCCACAAGGTGCATCAC -3'

Sequencing Primer
(F):5'- TCAAGTGTACAGCGCATCG -3'
(R):5'- GTGCATCACCAGAACTCGTC -3'
Posted On 2017-10-10