Incidental Mutation 'IGL02506:Serpinh1'
ID 296329
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 # IGL02506
Quality Score
Status
Chromosome 7
Chromosomal Location 98994583-99002321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98996199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 295 (K295M)
Ref Sequence ENSEMBL: ENSMUSP00000146969 (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: K295M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: K295M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169437
AA Change: K295M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: K295M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 51 408 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207849
AA Change: K295M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000207989
Predicted Effect probably damaging
Transcript: ENSMUST00000208119
AA Change: K295M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,916 (GRCm39) E189G possibly damaging Het
Acad11 T C 9: 103,968,931 (GRCm39) probably null Het
Adcy7 G T 8: 89,044,571 (GRCm39) R488L probably damaging Het
Akt1 C T 12: 112,625,714 (GRCm39) probably benign Het
Ano9 C T 7: 140,682,167 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,953,820 (GRCm39) D182G possibly damaging Het
Asxl3 T A 18: 22,585,456 (GRCm39) V127D probably benign Het
Cacna1g A G 11: 94,319,955 (GRCm39) M1407T probably damaging Het
Card9 A C 2: 26,244,427 (GRCm39) probably benign Het
Cdh5 A G 8: 104,864,454 (GRCm39) N472D probably damaging Het
Ceacam2 T A 7: 25,227,379 (GRCm39) T343S probably benign Het
Cic T A 7: 24,990,282 (GRCm39) C1928S probably benign Het
Clk3 C T 9: 57,661,927 (GRCm39) W31* probably null Het
Cntn4 A G 6: 106,595,349 (GRCm39) T489A probably benign Het
Crispld1 G A 1: 17,826,529 (GRCm39) R431H probably damaging Het
Crmp1 T A 5: 37,436,199 (GRCm39) probably benign Het
Cyld A G 8: 89,456,218 (GRCm39) T423A possibly damaging Het
Cyp3a44 A T 5: 145,736,198 (GRCm39) I84N probably damaging Het
D2hgdh A G 1: 93,757,507 (GRCm39) N141D probably damaging Het
Dip2b T A 15: 100,055,162 (GRCm39) L341Q probably damaging Het
F3 C T 3: 121,525,323 (GRCm39) T53I possibly damaging Het
Fam227b T A 2: 125,845,831 (GRCm39) Y386F probably benign Het
Fmn1 A T 2: 113,355,640 (GRCm39) T694S unknown Het
Gcnt2 T A 13: 41,040,856 (GRCm39) V5E probably benign Het
Herpud1 G T 8: 95,121,270 (GRCm39) E355* probably null Het
Igf1r T C 7: 67,843,144 (GRCm39) S752P probably benign Het
Iqsec1 T C 6: 90,649,057 (GRCm39) I687V possibly damaging Het
Kdm5a T C 6: 120,409,110 (GRCm39) S1598P probably damaging Het
Klk1b9 A G 7: 43,445,063 (GRCm39) E185G probably benign Het
Myo16 G T 8: 10,440,217 (GRCm39) R423L probably damaging Het
Myo7b T C 18: 32,100,207 (GRCm39) E1609G probably damaging Het
Nom1 T A 5: 29,644,814 (GRCm39) probably benign Het
Nomo1 A G 7: 45,727,480 (GRCm39) I1040V possibly damaging Het
Or8b39 G A 9: 37,996,741 (GRCm39) G203D probably damaging Het
Paqr9 T C 9: 95,442,748 (GRCm39) V246A probably benign Het
Pfkfb4 A T 9: 108,859,404 (GRCm39) D437V probably benign Het
Phldb1 G T 9: 44,622,223 (GRCm39) D797E probably benign Het
Pkd1l3 A G 8: 110,374,132 (GRCm39) E1399G probably damaging Het
Plekhs1 G A 19: 56,460,198 (GRCm39) C97Y probably damaging Het
Plscr4 A T 9: 92,372,044 (GRCm39) I272L possibly damaging Het
Prlhr A C 19: 60,456,366 (GRCm39) Y67D probably damaging Het
Rab3gap2 A G 1: 184,984,221 (GRCm39) probably benign Het
Rad23b T C 4: 55,382,511 (GRCm39) V238A probably benign Het
Sel1l2 T C 2: 140,117,380 (GRCm39) T164A possibly damaging Het
Slc45a4 T C 15: 73,453,687 (GRCm39) E770G probably benign Het
Spag4 T C 2: 155,911,142 (GRCm39) L390P probably damaging Het
Stip1 A G 19: 7,012,857 (GRCm39) probably benign Het
Tacr1 A G 6: 82,380,739 (GRCm39) N50S probably damaging Het
Tg T C 15: 66,613,443 (GRCm39) V433A possibly damaging Het
Ubap1l T A 9: 65,276,493 (GRCm39) probably benign Het
Usp40 A T 1: 87,909,738 (GRCm39) I572K probably damaging Het
Vps13b G T 15: 35,917,308 (GRCm39) E3717D probably damaging Het
Wdr81 T C 11: 75,335,232 (GRCm39) N1778S probably benign Het
Ylpm1 T A 12: 85,095,965 (GRCm39) F1162Y probably damaging Het
Zbtb10 T A 3: 9,330,297 (GRCm39) F552I probably damaging Het
Zfp507 T C 7: 35,475,891 (GRCm39) I811V probably damaging Het
Zfp663 A T 2: 165,195,871 (GRCm39) V116D probably benign Het
Other mutations in Serpinh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02405:Serpinh1 APN 7 98,996,541 (GRCm39) missense possibly damaging 0.94
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