Incidental Mutation 'IGL03341:Htra1'
ID 417225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htra1
Ensembl Gene ENSMUSG00000006205
Gene Name HtrA serine peptidase 1
Synonyms Prss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03341
Quality Score
Status
Chromosome 7
Chromosomal Location 130537933-130587388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130583444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 355 (I355V)
Ref Sequence ENSEMBL: ENSMUSP00000006367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006367] [ENSMUST00000124096]
AlphaFold Q9R118
Predicted Effect probably benign
Transcript: ENSMUST00000006367
AA Change: I355V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: I355V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IB 35 112 2.49e-24 SMART
KAZAL 109 155 4.28e-13 SMART
Pfam:Trypsin 192 364 3.5e-17 PFAM
Pfam:Trypsin_2 204 342 3.1e-35 PFAM
PDZ 381 466 7.48e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153290
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 trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik C T 2: 35,265,906 (GRCm39) V255I possibly damaging Het
Acvrl1 T A 15: 101,035,477 (GRCm39) N334K probably damaging Het
Arhgef5 T A 6: 43,257,585 (GRCm39) I1284N probably damaging Het
Asns C A 6: 7,682,002 (GRCm39) R236L probably damaging Het
Barx2 T C 9: 31,770,090 (GRCm39) E146G probably damaging Het
Ccl7 A G 11: 81,936,661 (GRCm39) S18G probably benign Het
Cilp A T 9: 65,185,284 (GRCm39) T460S probably benign Het
Cpa5 A G 6: 30,626,290 (GRCm39) Y217C possibly damaging Het
Dgkh T A 14: 78,832,931 (GRCm39) probably benign Het
Dmc1 T C 15: 79,446,746 (GRCm39) T276A probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Gstm2 T C 3: 107,891,521 (GRCm39) Y93C possibly damaging Het
Hc A T 2: 34,893,389 (GRCm39) I1274N probably damaging Het
Ifi214 G T 1: 173,354,082 (GRCm39) T196K possibly damaging Het
Ms4a5 T C 19: 11,256,742 (GRCm39) T52A probably benign Het
Mtx3 T C 13: 92,984,391 (GRCm39) F191L probably damaging Het
Padi2 A G 4: 140,654,424 (GRCm39) M192V probably benign Het
Pdcl3 C A 1: 39,034,976 (GRCm39) Q178K probably benign Het
Rap1gap2 G A 11: 74,326,540 (GRCm39) R176W probably damaging Het
Ska2 A G 11: 87,006,990 (GRCm39) T32A probably benign Het
Slc6a18 G T 13: 73,826,042 (GRCm39) Q3K probably benign Het
Slc7a14 T C 3: 31,292,919 (GRCm39) Y122C probably damaging Het
Svep1 T A 4: 58,070,308 (GRCm39) K2493* probably null Het
Trpm6 T A 19: 18,790,850 (GRCm39) N628K probably benign Het
Ttc17 T A 2: 94,205,566 (GRCm39) N260I probably damaging Het
Ttc7b T C 12: 100,291,994 (GRCm39) I193V possibly damaging Het
Ttn T A 2: 76,542,583 (GRCm39) T25141S possibly damaging Het
Zfhx4 A C 3: 5,476,910 (GRCm39) Q3150P probably damaging Het
Other mutations in Htra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Htra1 APN 7 130,538,108 (GRCm39) missense probably benign
IGL02500:Htra1 APN 7 130,586,704 (GRCm39) missense probably benign 0.01
IGL02708:Htra1 APN 7 130,563,765 (GRCm39) missense probably damaging 1.00
R0045:Htra1 UTSW 7 130,563,262 (GRCm39) missense probably damaging 1.00
R0045:Htra1 UTSW 7 130,563,262 (GRCm39) missense probably damaging 1.00
R0387:Htra1 UTSW 7 130,581,208 (GRCm39) missense probably damaging 1.00
R0681:Htra1 UTSW 7 130,581,027 (GRCm39) intron probably benign
R0963:Htra1 UTSW 7 130,584,009 (GRCm39) missense possibly damaging 0.75
R1244:Htra1 UTSW 7 130,586,799 (GRCm39) missense possibly damaging 0.87
R1892:Htra1 UTSW 7 130,586,799 (GRCm39) missense possibly damaging 0.87
R2279:Htra1 UTSW 7 130,563,752 (GRCm39) missense probably damaging 1.00
R4084:Htra1 UTSW 7 130,538,074 (GRCm39) missense probably benign 0.00
R4774:Htra1 UTSW 7 130,586,756 (GRCm39) missense probably benign 0.29
R4880:Htra1 UTSW 7 130,563,813 (GRCm39) missense probably damaging 1.00
R4909:Htra1 UTSW 7 130,586,802 (GRCm39) missense probably benign 0.43
R5183:Htra1 UTSW 7 130,585,446 (GRCm39) missense possibly damaging 0.58
R5819:Htra1 UTSW 7 130,583,469 (GRCm39) missense probably damaging 1.00
R5893:Htra1 UTSW 7 130,563,321 (GRCm39) missense probably damaging 1.00
R6709:Htra1 UTSW 7 130,537,948 (GRCm39) intron probably benign
R6845:Htra1 UTSW 7 130,538,021 (GRCm39) intron probably benign
R9332:Htra1 UTSW 7 130,563,851 (GRCm39) nonsense probably null
Posted On 2016-08-02