Incidental Mutation 'R7345:Serpinh1'
ID 570145
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 045379-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7345 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98994583-99002321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98995563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 340 (S340A)
Ref Sequence ENSEMBL: ENSMUSP00000091706 (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: S340A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: S340A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169437
AA Change: S340A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: S340A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207849
AA Change: S340A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000207989
Predicted Effect probably damaging
Transcript: ENSMUST00000208119
AA Change: S340A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000208292
Predicted Effect probably benign
Transcript: ENSMUST00000208749
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 A G 16: 4,773,774 (GRCm39) M174T possibly damaging Het
Arhgap23 G A 11: 97,357,304 (GRCm39) R934Q possibly damaging Het
Atad5 T C 11: 79,986,832 (GRCm39) S640P probably damaging Het
B3galnt2 C T 13: 14,155,065 (GRCm39) probably null Het
B430305J03Rik T C 3: 61,271,539 (GRCm39) S69G unknown Het
Cd163 A T 6: 124,295,897 (GRCm39) N747I possibly damaging Het
Cep126 A G 9: 8,099,817 (GRCm39) S906P probably damaging Het
Cimip2b T C 4: 43,428,022 (GRCm39) D145G possibly damaging Het
Cyp4f39 G A 17: 32,705,753 (GRCm39) G318R probably damaging Het
D630003M21Rik C T 2: 158,059,129 (GRCm39) G257D probably damaging Het
Dcaf10 T C 4: 45,342,583 (GRCm39) L139P probably damaging Het
Dcc A G 18: 71,511,895 (GRCm39) V840A probably benign Het
Dnhd1 A T 7: 105,353,174 (GRCm39) I2776L probably benign Het
Fbxo24 G T 5: 137,619,523 (GRCm39) F234L probably damaging Het
Gm21190 T C 5: 15,732,902 (GRCm39) probably null Het
Grhl3 C T 4: 135,273,557 (GRCm39) R565Q probably damaging Het
Gtf3c1 A T 7: 125,244,842 (GRCm39) Y1731N probably damaging Het
Il1a C A 2: 129,146,693 (GRCm39) R133S probably benign Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Klc3 G A 7: 19,128,814 (GRCm39) T481M probably benign Het
Map2k6 A T 11: 110,383,734 (GRCm39) I127F Het
Mapk8 A T 14: 33,130,068 (GRCm39) N63K probably damaging Het
Med13l T C 5: 118,880,825 (GRCm39) W1306R probably damaging Het
Megf6 C A 4: 154,351,772 (GRCm39) Q1162K probably benign Het
Myo5b A G 18: 74,841,095 (GRCm39) E992G possibly damaging Het
Ndst4 C T 3: 125,508,308 (GRCm39) T291M probably benign Het
Nek10 T A 14: 14,955,503 (GRCm38) F838L probably benign Het
Nrm A G 17: 36,175,476 (GRCm39) H194R probably damaging Het
Nup188 T C 2: 30,230,613 (GRCm39) S1384P probably benign Het
Olfml2a C A 2: 38,850,139 (GRCm39) D618E probably damaging Het
Or5p78 C T 7: 108,212,270 (GRCm39) T252I probably benign Het
Or8g23 A G 9: 38,971,875 (GRCm39) L29P probably damaging Het
Or8g24 G A 9: 38,989,630 (GRCm39) S137F probably damaging Het
Or9s18 A C 13: 65,300,557 (GRCm39) N173T possibly damaging Het
P2ry1 T C 3: 60,911,095 (GRCm39) F78S possibly damaging Het
Pcdhb18 T C 18: 37,624,976 (GRCm39) F769L probably benign Het
Poc5 A G 13: 96,533,304 (GRCm39) E144G probably damaging Het
Pole T A 5: 110,451,769 (GRCm39) N870K possibly damaging Het
Polr2b T C 5: 77,496,966 (GRCm39) F1159L possibly damaging Het
Pramel32 T C 4: 88,546,416 (GRCm39) K309E possibly damaging Het
Rubcnl A G 14: 75,279,793 (GRCm39) Y392C probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Slc1a5 T A 7: 16,530,085 (GRCm39) probably null Het
Soat2 A G 15: 102,071,013 (GRCm39) D469G probably benign Het
Speg T C 1: 75,361,479 (GRCm39) L70P probably damaging Het
Spred2 T C 11: 19,874,958 (GRCm39) probably null Het
Stac2 A C 11: 97,933,439 (GRCm39) S168A probably damaging Het
Stx1a T A 5: 135,066,042 (GRCm39) D31E probably benign Het
Timeless C T 10: 128,085,623 (GRCm39) T885M probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tsen34 T C 7: 3,698,614 (GRCm39) Y253H probably damaging Het
Unc13b T C 4: 43,173,966 (GRCm39) V1598A unknown Het
Zfat A T 15: 67,976,892 (GRCm39) Y1086N probably damaging Het
Zfp551 G A 7: 12,150,522 (GRCm39) H296Y 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
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
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'- CGCTCTGATTATCTCGCACCAG -3'
(R):5'- GTCCTGGTGGTATACAGAGGAAC -3'

Sequencing Primer
(F):5'- CTGATTATCTCGCACCAGGAAGATG -3'
(R):5'- GGTTTGCAGCACTTCCGC -3'
Posted On 2019-09-13