Incidental Mutation 'IGL02405:Serpinh1'
ID 292046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinh1
Ensembl Gene ENSMUSG00000070436
Gene Name serine (or cysteine) peptidase inhibitor, clade H, member 1
Synonyms Serpinh2, Hsp47, colligin, J6, Cbp1, Cbp2, gp46
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02405
Quality Score
Status
Chromosome 7
Chromosomal Location 98994583-99002321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98996541 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P19324
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: 24,498,036 (GRCm39) S1434P possibly damaging Het
Abcc12 G T 8: 87,284,782 (GRCm39) Q278K probably damaging Het
Adk A G 14: 21,153,899 (GRCm39) K48R probably benign Het
Atp8b3 C T 10: 80,366,462 (GRCm39) G267D probably damaging Het
Bpifa6 T A 2: 153,832,782 (GRCm39) L299* probably null Het
Cblb G A 16: 51,986,616 (GRCm39) A620T probably benign Het
Cep128 C T 12: 91,233,760 (GRCm39) R436H probably benign Het
Chd4 A G 6: 125,074,190 (GRCm39) D21G probably benign Het
Cnksr1 T C 4: 133,963,592 (GRCm39) D30G possibly damaging Het
Crybb2 A G 5: 113,206,374 (GRCm39) Y154H probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx57 A T 17: 80,562,979 (GRCm39) probably null Het
Eri2 T C 7: 119,384,705 (GRCm39) R599G probably damaging Het
Fcrl1 A C 3: 87,293,074 (GRCm39) K244Q probably damaging Het
Gm11992 A G 11: 9,009,939 (GRCm39) N179S probably benign Het
Hgfac A G 5: 35,201,824 (GRCm39) D319G probably benign Het
Irf5 G A 6: 29,535,760 (GRCm39) R258H probably damaging Het
Mecr G A 4: 131,590,303 (GRCm39) probably null Het
Obscn T G 11: 59,023,428 (GRCm39) K650Q probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Pde4d T C 13: 108,996,743 (GRCm39) probably null Het
Saxo4 G A 19: 10,451,930 (GRCm39) T406I probably damaging Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc43a3 A G 2: 84,768,585 (GRCm39) E68G probably damaging Het
Supt5 T C 7: 28,015,249 (GRCm39) N969D probably benign Het
Taf2 A T 15: 54,897,551 (GRCm39) probably benign Het
Tlr2 A G 3: 83,743,981 (GRCm39) F701L probably damaging Het
Trim46 T C 3: 89,149,792 (GRCm39) T222A probably benign Het
Tshz3 A T 7: 36,469,075 (GRCm39) N355Y possibly damaging Het
Vmn2r3 A G 3: 64,178,620 (GRCm39) probably benign Het
Xkr9 A T 1: 13,742,997 (GRCm39) probably benign Het
Zfhx3 C T 8: 109,682,374 (GRCm39) A3271V unknown Het
Other mutations in Serpinh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Serpinh1 APN 7 98,996,199 (GRCm39) missense probably damaging 1.00
R0070:Serpinh1 UTSW 7 98,998,521 (GRCm39) missense probably damaging 1.00
R0070:Serpinh1 UTSW 7 98,998,521 (GRCm39) missense probably damaging 1.00
R0608:Serpinh1 UTSW 7 98,998,601 (GRCm39) missense unknown
R1338:Serpinh1 UTSW 7 98,998,118 (GRCm39) missense probably damaging 1.00
R1612:Serpinh1 UTSW 7 98,998,138 (GRCm39) missense probably damaging 0.97
R1916:Serpinh1 UTSW 7 98,998,288 (GRCm39) missense probably damaging 1.00
R2321:Serpinh1 UTSW 7 98,995,592 (GRCm39) missense probably damaging 1.00
R2886:Serpinh1 UTSW 7 98,998,228 (GRCm39) missense probably damaging 1.00
R4176:Serpinh1 UTSW 7 98,996,206 (GRCm39) missense probably benign
R5860:Serpinh1 UTSW 7 98,995,571 (GRCm39) missense probably damaging 1.00
R7345:Serpinh1 UTSW 7 98,995,563 (GRCm39) missense probably damaging 0.99
R7884:Serpinh1 UTSW 7 98,998,495 (GRCm39) missense probably benign 0.00
R8215:Serpinh1 UTSW 7 98,995,545 (GRCm39) missense possibly damaging 0.58
R8309:Serpinh1 UTSW 7 98,998,151 (GRCm39) missense possibly damaging 0.94
R8756:Serpinh1 UTSW 7 98,996,359 (GRCm39) missense probably damaging 1.00
R9515:Serpinh1 UTSW 7 98,996,484 (GRCm39) missense probably damaging 1.00
RF005:Serpinh1 UTSW 7 98,995,410 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16