Incidental Mutation 'IGL03341:Htra1'
ID417225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htra1
Ensembl Gene ENSMUSG00000006205
Gene NameHtrA serine peptidase 1
SynonymsPrss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03341
Quality Score
Status
Chromosome7
Chromosomal Location130936111-130985660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130981714 bp
ZygosityHeterozygous
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]
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: 35,375,894 V255I possibly damaging Het
Acvrl1 T A 15: 101,137,596 N334K probably damaging Het
Arhgef5 T A 6: 43,280,651 I1284N probably damaging Het
Asns C A 6: 7,682,002 R236L probably damaging Het
Barx2 T C 9: 31,858,794 E146G probably damaging Het
Ccl7 A G 11: 82,045,835 S18G probably benign Het
Cilp A T 9: 65,278,002 T460S probably benign Het
Cpa5 A G 6: 30,626,291 Y217C possibly damaging Het
Dgkh T A 14: 78,595,491 probably benign Het
Dmc1 T C 15: 79,562,545 T276A probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gstm2 T C 3: 107,984,205 Y93C possibly damaging Het
Hc A T 2: 35,003,377 I1274N probably damaging Het
Ifi214 G T 1: 173,526,516 T196K possibly damaging Het
Ms4a5 T C 19: 11,279,378 T52A probably benign Het
Mtx3 T C 13: 92,847,883 F191L probably damaging Het
Padi2 A G 4: 140,927,113 M192V probably benign Het
Pdcl3 C A 1: 38,995,895 Q178K probably benign Het
Rap1gap2 G A 11: 74,435,714 R176W probably damaging Het
Ska2 A G 11: 87,116,164 T32A probably benign Het
Slc6a18 G T 13: 73,677,923 Q3K probably benign Het
Slc7a14 T C 3: 31,238,770 Y122C probably damaging Het
Svep1 T A 4: 58,070,308 K2493* probably null Het
Trpm6 T A 19: 18,813,486 N628K probably benign Het
Ttc17 T A 2: 94,375,221 N260I probably damaging Het
Ttc7b T C 12: 100,325,735 I193V possibly damaging Het
Ttn T A 2: 76,712,239 T25141S possibly damaging Het
Zfhx4 A C 3: 5,411,850 Q3150P probably damaging Het
Other mutations in Htra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Htra1 APN 7 130936378 missense probably benign
IGL02500:Htra1 APN 7 130984974 missense probably benign 0.01
IGL02708:Htra1 APN 7 130962035 missense probably damaging 1.00
R0045:Htra1 UTSW 7 130961532 missense probably damaging 1.00
R0045:Htra1 UTSW 7 130961532 missense probably damaging 1.00
R0387:Htra1 UTSW 7 130979478 missense probably damaging 1.00
R0681:Htra1 UTSW 7 130979297 intron probably benign
R0963:Htra1 UTSW 7 130982279 missense possibly damaging 0.75
R1244:Htra1 UTSW 7 130985069 missense possibly damaging 0.87
R1892:Htra1 UTSW 7 130985069 missense possibly damaging 0.87
R2279:Htra1 UTSW 7 130962022 missense probably damaging 1.00
R4084:Htra1 UTSW 7 130936344 missense probably benign 0.00
R4774:Htra1 UTSW 7 130985026 missense probably benign 0.29
R4880:Htra1 UTSW 7 130962083 missense probably damaging 1.00
R4909:Htra1 UTSW 7 130985072 missense probably benign 0.43
R5183:Htra1 UTSW 7 130983716 missense possibly damaging 0.58
R5819:Htra1 UTSW 7 130981739 missense probably damaging 1.00
R5893:Htra1 UTSW 7 130961591 missense probably damaging 1.00
R6709:Htra1 UTSW 7 130936218 intron probably benign
R6845:Htra1 UTSW 7 130936291 intron probably benign
Posted On2016-08-02