Incidental Mutation 'R2869:Ch25h'
ID 253493
Institutional Source Beutler Lab
Gene Symbol Ch25h
Ensembl Gene ENSMUSG00000050370
Gene Name cholesterol 25-hydroxylase
Synonyms m25OH
MMRRC Submission 040457-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R2869 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 34451183-34452548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34452210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 106 (H106L)
Ref Sequence ENSEMBL: ENSMUSP00000049683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050562]
AlphaFold Q9Z0F5
Predicted Effect probably benign
Transcript: ENSMUST00000050562
AA Change: H106L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049683
Gene: ENSMUSG00000050370
AA Change: H106L

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
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.4%
  • 10x: 93.9%
  • 20x: 77.8%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ccl27a C T 4: 41,769,640 (GRCm39) R73Q probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Ggt6 A T 11: 72,328,187 (GRCm39) N229I probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gsdme A T 6: 50,185,157 (GRCm39) C432* probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kcnb1 A G 2: 166,947,855 (GRCm39) L331P probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Het
Krt13 A G 11: 100,008,475 (GRCm39) S421P unknown Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lzts2 C A 19: 45,012,534 (GRCm39) S321* probably null Het
Meikin T C 11: 54,264,333 (GRCm39) V103A possibly damaging Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbn T A 4: 15,963,810 (GRCm39) D70E probably damaging Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nwd2 A T 5: 63,957,671 (GRCm39) I334L probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or4k2 T C 14: 50,423,811 (GRCm39) T288A probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Serinc2 A G 4: 130,159,005 (GRCm39) S29P probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tprg1 T C 16: 25,231,590 (GRCm39) W189R probably damaging Het
Trim32 A G 4: 65,532,694 (GRCm39) D417G probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign 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
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
R6173:Ch25h UTSW 19 34,451,896 (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'- GCTCCCAGAAGCTCATGTATTGG -3'
(R):5'- ATCACTTACGTGGGCTTCTGC -3'

Sequencing Primer
(F):5'- CAGAAGCTCATGTATTGGGTCGC -3'
(R):5'- CTGCCTACCGTTCGTGGTG -3'
Posted On 2014-12-04