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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |