Incidental Mutation 'R5558:Ch25h'
ID 436438
Institutional Source Beutler Lab
Gene Symbol Ch25h
Ensembl Gene ENSMUSG00000050370
Gene Name cholesterol 25-hydroxylase
Synonyms m25OH
MMRRC Submission 043115-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R5558 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 34451183-34452548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34451863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 222 (W222R)
Ref Sequence ENSEMBL: ENSMUSP00000049683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050562]
AlphaFold Q9Z0F5
Predicted Effect probably damaging
Transcript: ENSMUST00000050562
AA Change: W222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049683
Gene: ENSMUSG00000050370
AA Change: W222R

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: 98.2%
  • 20x: 94.6%
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
Abcg4 T C 9: 44,192,705 (GRCm39) K177E probably damaging Het
Acvr1 T C 2: 58,349,029 (GRCm39) T378A probably damaging Het
Agtpbp1 A G 13: 59,630,394 (GRCm39) V779A probably benign Het
Alms1 C T 6: 85,618,311 (GRCm39) Q2786* probably null Het
Arhgef28 A C 13: 98,097,968 (GRCm39) L882R probably damaging Het
Cbx2 A G 11: 118,919,775 (GRCm39) T447A probably benign Het
Chsy3 T G 18: 59,309,469 (GRCm39) S241A probably damaging Het
Cyfip1 T C 7: 55,541,749 (GRCm39) S345P possibly damaging Het
Cyp4a30b C A 4: 115,316,063 (GRCm39) D291E probably damaging Het
Dcstamp A G 15: 39,622,936 (GRCm39) Y419C probably damaging Het
Eif3d G A 15: 77,846,047 (GRCm39) R359C probably damaging Het
Elavl4 C A 4: 110,063,800 (GRCm39) G267V probably benign Het
Gars1 T C 6: 55,042,592 (GRCm39) S442P probably damaging Het
Gas6 C T 8: 13,516,764 (GRCm39) R578Q probably null Het
H4c4 C A 13: 23,765,779 (GRCm39) N65K possibly damaging Het
Ifitm6 T C 7: 140,595,985 (GRCm39) I103V probably benign Het
Igsf5 T A 16: 96,187,731 (GRCm39) I241N possibly damaging Het
Iqce A G 5: 140,657,560 (GRCm39) probably null Het
Khdc4 A C 3: 88,600,403 (GRCm39) H164P probably damaging Het
Kif20b C A 19: 34,928,949 (GRCm39) Q1192K probably damaging Het
Lap3 A G 5: 45,662,093 (GRCm39) N298D probably benign Het
Lca5 A T 9: 83,283,796 (GRCm39) S246T probably damaging Het
Mrps5 G A 2: 127,444,355 (GRCm39) G330S probably damaging Het
Myh15 C T 16: 48,889,900 (GRCm39) R164C probably benign Het
Myo19 C G 11: 84,801,274 (GRCm39) P940R probably damaging Het
Or10j7 T C 1: 173,011,585 (GRCm39) R139G probably benign Het
Or5b12b T C 19: 12,861,751 (GRCm39) F169L probably benign Het
Pcdh10 A G 3: 45,338,603 (GRCm39) D920G probably damaging Het
Pgm5 A T 19: 24,801,815 (GRCm39) probably null Het
Phactr4 T C 4: 132,105,766 (GRCm39) E137G probably damaging Het
Pkn1 C T 8: 84,411,351 (GRCm39) V239M probably damaging Het
Plcz1 T A 6: 139,985,481 (GRCm39) D20V probably damaging Het
Prkca A T 11: 107,872,473 (GRCm39) I429N probably damaging Het
Ptk2 A T 15: 73,176,294 (GRCm39) Y251N probably damaging Het
R3hdm2 T C 10: 127,280,271 (GRCm39) F31S probably damaging Het
Rab11fip1 T A 8: 27,642,003 (GRCm39) E932V probably damaging Het
Rilp A G 11: 75,402,251 (GRCm39) Y250C probably damaging Het
Sclt1 A G 3: 41,616,025 (GRCm39) I474T probably benign Het
Slc14a2 T A 18: 78,202,381 (GRCm39) D583V possibly damaging Het
Slc30a4 A G 2: 122,528,903 (GRCm39) I324T probably damaging Het
Slc6a5 G A 7: 49,577,321 (GRCm39) V326I probably benign Het
Slco1c1 C T 6: 141,513,222 (GRCm39) T617I probably damaging Het
Sntg1 A G 1: 8,484,495 (GRCm39) S442P possibly damaging Het
Sys1 G T 2: 164,306,429 (GRCm39) A128S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmed5 A G 5: 108,272,462 (GRCm39) I212T probably benign Het
Tnks T C 8: 35,432,819 (GRCm39) M1V probably null Het
Trpa1 T C 1: 14,968,492 (GRCm39) H452R probably damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Ttn T A 2: 76,555,395 (GRCm39) I30537F probably damaging Het
Ush2a T C 1: 188,530,024 (GRCm39) V3271A possibly damaging Het
Utp20 C G 10: 88,587,329 (GRCm39) G2489R probably damaging Het
Vmn1r70 A T 7: 10,368,402 (GRCm39) S278C probably benign Het
Wdpcp G A 11: 21,661,732 (GRCm39) A335T probably benign Het
Zc3h18 G T 8: 123,113,659 (GRCm39) R217L probably damaging Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp955b C T 17: 33,521,161 (GRCm39) T210I possibly damaging 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
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'- ATCAAGTGTACAGCGCATCG -3'
(R):5'- TGCATCACCAGAACTCGTC -3'

Sequencing Primer
(F):5'- TCTCTGGAGTTCACGCAGC -3'
(R):5'- AGAACTCGTCCTCCTTCGCG -3'
Posted On 2016-10-24