Incidental Mutation 'R2886:Serpinh1'
ID 261051
Institutional Source Beutler Lab
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
MMRRC Submission 040474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2886 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98994583-99002321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98998228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 134 (Y134C)
Ref Sequence ENSEMBL: ENSMUSP00000146515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094154] [ENSMUST00000169437] [ENSMUST00000207849] [ENSMUST00000207989] [ENSMUST00000208119] [ENSMUST00000208292] [ENSMUST00000208749]
AlphaFold P19324
Predicted Effect probably damaging
Transcript: ENSMUST00000094154
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: Y134C

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169437
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: Y134C

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207849
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207989
Predicted Effect probably damaging
Transcript: ENSMUST00000208119
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208292
Predicted Effect probably damaging
Transcript: ENSMUST00000208749
AA Change: Y134C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9541 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,035,712 (GRCm39) probably benign Het
Bicdl2 G A 17: 23,885,732 (GRCm39) probably null Het
Cables1 A G 18: 12,072,789 (GRCm39) D448G possibly damaging Het
Casq2 A T 3: 102,051,534 (GRCm39) N338I probably damaging Het
Ccr1l1 T C 9: 123,777,553 (GRCm39) N298S probably damaging Het
Dnajc17 A G 2: 119,009,933 (GRCm39) V231A probably benign Het
Ell2 T C 13: 75,911,904 (GRCm39) S397P probably damaging Het
Gm9966 T C 7: 95,607,753 (GRCm39) C25R unknown Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Helz2 A G 2: 180,882,535 (GRCm39) M86T probably benign Het
Il17rd T A 14: 26,821,510 (GRCm39) I268N probably damaging Het
Ipcef1 C T 10: 6,850,641 (GRCm39) V317M probably damaging Het
Itgae A T 11: 73,031,513 (GRCm39) E1076D probably benign Het
Kcnq5 A T 1: 21,539,771 (GRCm39) Y382* probably null Het
Kif21b G A 1: 136,075,612 (GRCm39) probably benign Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mdga2 A G 12: 66,553,044 (GRCm39) probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nrk T C X: 137,876,197 (GRCm39) L466P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pkn1 G A 8: 84,407,867 (GRCm39) A421V probably benign Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Selenon T C 4: 134,270,380 (GRCm39) D324G probably null Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Slc27a5 T A 7: 12,723,487 (GRCm39) probably benign Het
Slc5a4b C T 10: 75,910,907 (GRCm39) V310M probably damaging Het
Smc6 T C 12: 11,326,294 (GRCm39) V97A probably damaging Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Usp42 T C 5: 143,707,384 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r-ps69 T C 7: 84,956,832 (GRCm39) noncoding transcript Het
Zfpm2 A G 15: 40,965,719 (GRCm39) T603A probably benign Het
Other mutations in Serpinh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02405:Serpinh1 APN 7 98,996,541 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- GACTCACGCTTAAAGAACATGGC -3'
(R):5'- ATCCCTGGGTCTTGTGTCACTG -3'

Sequencing Primer
(F):5'- CATGGCGTTCACAAGCAG -3'
(R):5'- TGTCACTGGGTGGTAAAGC -3'
Posted On 2015-01-23