Incidental Mutation 'IGL02405:Serpinh1'
ID292046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinh1
Ensembl Gene ENSMUSG00000070436
Gene Nameserine (or cysteine) peptidase inhibitor, clade H, member 1
SynonymsHsp47, gp46, Cbp2, Serpinh2, Cbp1, colligin, J6
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02405
Quality Score
Status
Chromosome7
Chromosomal Location99345376-99353239 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99347334 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 217 (M217T)
Ref Sequence ENSEMBL: ENSMUSP00000146969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094154] [ENSMUST00000169437] [ENSMUST00000207849] [ENSMUST00000207989] [ENSMUST00000208119] [ENSMUST00000208292] [ENSMUST00000208749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094154
AA Change: M217T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: M217T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169437
AA Change: M217T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: M217T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207849
AA Change: M217T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000207989
Predicted Effect possibly damaging
Transcript: ENSMUST00000208119
AA Change: M217T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000208292
Predicted Effect probably benign
Transcript: ENSMUST00000208749
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. Mice homozygous for a conditional allele activated in chondrocytes exhibit complete perinatal lethality, cleft palate, respiratory distress, abnormal chondocytes and bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,279,062 S1434P possibly damaging Het
Abcc12 G T 8: 86,558,153 Q278K probably damaging Het
Adk A G 14: 21,103,831 K48R probably benign Het
Atp8b3 C T 10: 80,530,628 G267D probably damaging Het
Bpifa6 T A 2: 153,990,862 L299* probably null Het
Cblb G A 16: 52,166,253 A620T probably benign Het
Cep128 C T 12: 91,266,986 R436H probably benign Het
Chd4 A G 6: 125,097,227 D21G probably benign Het
Cnksr1 T C 4: 134,236,281 D30G possibly damaging Het
Crybb2 A G 5: 113,058,508 Y154H probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhx57 A T 17: 80,255,550 probably null Het
Eri2 T C 7: 119,785,482 R599G probably damaging Het
Fcrl1 A C 3: 87,385,767 K244Q probably damaging Het
Gm11992 A G 11: 9,059,939 N179S probably benign Het
Hgfac A G 5: 35,044,480 D319G probably benign Het
Irf5 G A 6: 29,535,761 R258H probably damaging Het
Mecr G A 4: 131,862,992 probably null Het
Obscn T G 11: 59,132,602 K650Q probably damaging Het
Olfr1450 A G 19: 12,954,459 Y290C probably damaging Het
Pde4d T C 13: 108,860,209 probably null Het
Ppp1r32 G A 19: 10,474,566 T406I probably damaging Het
Setbp1 A T 18: 78,857,299 M1051K probably damaging Het
Slc43a3 A G 2: 84,938,241 E68G probably damaging Het
Supt5 T C 7: 28,315,824 N969D probably benign Het
Taf2 A T 15: 55,034,155 probably benign Het
Tlr2 A G 3: 83,836,674 F701L probably damaging Het
Trim46 T C 3: 89,242,485 T222A probably benign Het
Tshz3 A T 7: 36,769,650 N355Y possibly damaging Het
Vmn2r3 A G 3: 64,271,199 probably benign Het
Xkr9 A T 1: 13,672,773 probably benign Het
Zfhx3 C T 8: 108,955,742 A3271V unknown Het
Other mutations in Serpinh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Serpinh1 APN 7 99346992 missense probably damaging 1.00
R0070:Serpinh1 UTSW 7 99349314 missense probably damaging 1.00
R0070:Serpinh1 UTSW 7 99349314 missense probably damaging 1.00
R0608:Serpinh1 UTSW 7 99349394 missense unknown
R1338:Serpinh1 UTSW 7 99348911 missense probably damaging 1.00
R1612:Serpinh1 UTSW 7 99348931 missense probably damaging 0.97
R1916:Serpinh1 UTSW 7 99349081 missense probably damaging 1.00
R2321:Serpinh1 UTSW 7 99346385 missense probably damaging 1.00
R2886:Serpinh1 UTSW 7 99349021 missense probably damaging 1.00
R4176:Serpinh1 UTSW 7 99346999 missense probably benign
R5860:Serpinh1 UTSW 7 99346364 missense probably damaging 1.00
R7345:Serpinh1 UTSW 7 99346356 missense probably damaging 0.99
R7884:Serpinh1 UTSW 7 99349288 missense probably benign 0.00
R7967:Serpinh1 UTSW 7 99349288 missense probably benign 0.00
R8215:Serpinh1 UTSW 7 99346338 missense possibly damaging 0.58
R8309:Serpinh1 UTSW 7 99348944 missense possibly damaging 0.94
RF005:Serpinh1 UTSW 7 99346203 missense probably damaging 1.00
Posted On2015-04-16