Incidental Mutation 'IGL02954:Cthrc1'
ID 365055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cthrc1
Ensembl Gene ENSMUSG00000054196
Gene Name collagen triple helix repeat containing 1
Synonyms 1110014B07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02954
Quality Score
Status
Chromosome 15
Chromosomal Location 38940327-38950516 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 38940389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067072] [ENSMUST00000226433]
AlphaFold Q9D1D6
Predicted Effect probably benign
Transcript: ENSMUST00000067072
SMART Domains Protein: ENSMUSP00000070018
Gene: ENSMUSG00000054196

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132192
Predicted Effect probably benign
Transcript: ENSMUST00000226433
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
PHENOTYPE: Adult mice homozygous for a null allele exhibit decreased bone, decreased osteoblast number and decreased bone formation. Mice homozygous for a different knock-out allele exhibit increased hepatocyte size, decreased cell density in the liver, hepatic steatosis and increased glycogen storage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,782,341 (GRCm39) R908L probably benign Het
Abcc9 T C 6: 142,592,007 (GRCm39) N774S probably damaging Het
Alpk2 C T 18: 65,439,207 (GRCm39) V729I probably benign Het
Atf3 T C 1: 190,903,852 (GRCm39) N125D probably damaging Het
Bcat1 C T 6: 144,964,945 (GRCm39) G215D probably damaging Het
Bptf G T 11: 106,945,575 (GRCm39) Q2555K possibly damaging Het
Cyp2c38 A G 19: 39,379,520 (GRCm39) M443T probably damaging Het
D6Wsu163e C T 6: 126,951,441 (GRCm39) probably benign Het
Dgkg T A 16: 22,441,003 (GRCm39) E3D probably benign Het
Dnah8 G T 17: 30,923,809 (GRCm39) R1259L probably benign Het
Dnah9 A G 11: 66,009,793 (GRCm39) L698P probably damaging Het
Ebag9 A C 15: 44,493,601 (GRCm39) H141P probably benign Het
Emilin2 T C 17: 71,563,526 (GRCm39) R840G probably benign Het
Faap100 A T 11: 120,262,957 (GRCm39) H800Q probably damaging Het
Fh1 A T 1: 175,437,301 (GRCm39) I266N probably damaging Het
Fkbp15 A G 4: 62,239,302 (GRCm39) probably benign Het
Gm17334 A G 11: 53,663,654 (GRCm39) probably benign Het
Gm5773 G T 3: 93,680,358 (GRCm39) W10L probably benign Het
Gng13 T C 17: 25,937,726 (GRCm39) Y18H probably damaging Het
Hivep3 T C 4: 119,990,838 (GRCm39) S2113P probably damaging Het
Ift81 A T 5: 122,748,248 (GRCm39) probably benign Het
Irak3 A C 10: 120,012,147 (GRCm39) L206V probably damaging Het
Kcng4 C T 8: 120,359,792 (GRCm39) A195T probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Nars2 T G 7: 96,689,100 (GRCm39) probably null Het
Nol8 T C 13: 49,814,648 (GRCm39) V234A probably benign Het
Or12j4 A T 7: 140,046,353 (GRCm39) K80* probably null Het
Or1o4 T A 17: 37,591,195 (GRCm39) N39Y probably damaging Het
Patz1 A G 11: 3,241,761 (GRCm39) Y383C probably damaging Het
Pdcd5 T C 7: 35,343,089 (GRCm39) Y152C probably damaging Het
Phkg1 A G 5: 129,894,910 (GRCm39) W214R probably damaging Het
Plxna1 A G 6: 89,301,649 (GRCm39) L1459P probably damaging Het
Pspc1 G A 14: 57,009,217 (GRCm39) P206S probably benign Het
St7 A T 6: 17,848,030 (GRCm39) N198I probably damaging Het
Supt3 A G 17: 45,349,015 (GRCm39) D249G probably damaging Het
Taf1c T C 8: 120,327,225 (GRCm39) Y418C probably damaging Het
Tdrd6 A G 17: 43,938,153 (GRCm39) V965A possibly damaging Het
Ugt2b35 A G 5: 87,159,180 (GRCm39) N458S probably benign Het
Vmn1r8 A G 6: 57,013,315 (GRCm39) Y122C probably benign Het
Other mutations in Cthrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Cthrc1 APN 15 38,943,894 (GRCm39) missense possibly damaging 0.95
IGL02532:Cthrc1 APN 15 38,940,560 (GRCm39) splice site probably benign
IGL03390:Cthrc1 APN 15 38,940,529 (GRCm39) missense probably benign 0.00
R0390:Cthrc1 UTSW 15 38,950,159 (GRCm39) makesense probably null
R0594:Cthrc1 UTSW 15 38,940,537 (GRCm39) missense possibly damaging 0.95
R1491:Cthrc1 UTSW 15 38,950,072 (GRCm39) missense probably damaging 1.00
R4454:Cthrc1 UTSW 15 38,940,408 (GRCm39) missense probably benign 0.18
R5096:Cthrc1 UTSW 15 38,947,815 (GRCm39) missense probably damaging 0.99
R5860:Cthrc1 UTSW 15 38,950,080 (GRCm39) missense probably damaging 1.00
R7082:Cthrc1 UTSW 15 38,940,495 (GRCm39) missense probably benign
R7717:Cthrc1 UTSW 15 38,940,511 (GRCm39) missense probably benign
R7983:Cthrc1 UTSW 15 38,940,550 (GRCm39) missense probably benign 0.00
R8710:Cthrc1 UTSW 15 38,947,821 (GRCm39) missense probably damaging 1.00
R8812:Cthrc1 UTSW 15 38,947,866 (GRCm39) missense probably damaging 1.00
R8889:Cthrc1 UTSW 15 38,940,445 (GRCm39) missense probably damaging 0.99
R9449:Cthrc1 UTSW 15 38,947,868 (GRCm39) missense probably benign 0.19
R9467:Cthrc1 UTSW 15 38,947,689 (GRCm39) missense probably benign 0.00
R9625:Cthrc1 UTSW 15 38,947,874 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18