Incidental Mutation 'R1244:Htra1'
| ID |
152089 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039311-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130537933-130587388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130586799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 461
(V461I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006367]
[ENSMUST00000124096]
|
| AlphaFold |
Q9R118 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006367
AA Change: V461I
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: V461I
| 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: ENSMUST00000150905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153290
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
T |
12: 71,262,918 (GRCm39) |
T1417I |
probably benign |
Het |
| Abca14 |
G |
A |
7: 119,815,561 (GRCm39) |
A270T |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,223,227 (GRCm39) |
T12K |
unknown |
Het |
| Ash2l |
T |
C |
8: 26,307,449 (GRCm39) |
S529G |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,180,654 (GRCm39) |
Y125C |
probably benign |
Het |
| Calca |
A |
G |
7: 114,232,962 (GRCm39) |
Y96H |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,946,417 (GRCm39) |
E131G |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,679,397 (GRCm39) |
D25G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,749,557 (GRCm39) |
D1728G |
probably damaging |
Het |
| Cyp39a1 |
A |
T |
17: 44,060,836 (GRCm39) |
K461N |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,478,703 (GRCm39) |
Q161L |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,438,554 (GRCm39) |
T90A |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,868,367 (GRCm39) |
E39G |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,601 (GRCm39) |
R905W |
probably damaging |
Het |
| Hsd11b1 |
T |
G |
1: 192,906,068 (GRCm39) |
M175L |
probably benign |
Het |
| Il10 |
A |
G |
1: 130,951,953 (GRCm39) |
D162G |
probably damaging |
Het |
| Mapre2 |
A |
G |
18: 23,986,774 (GRCm39) |
K62R |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
A |
G |
8: 94,763,999 (GRCm39) |
D28G |
probably benign |
Het |
| Or5an10 |
A |
T |
19: 12,275,860 (GRCm39) |
I212N |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,340 (GRCm39) |
R295C |
probably benign |
Het |
| Ppp4c |
A |
G |
7: 126,385,452 (GRCm39) |
V119A |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,593,999 (GRCm39) |
I1616T |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,472,190 (GRCm39) |
N1390S |
probably benign |
Het |
| Sub1 |
A |
T |
15: 11,991,130 (GRCm39) |
V37E |
possibly damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,493,822 (GRCm39) |
V267E |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,847 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
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 |
|
IGL03341:Htra1
|
APN |
7 |
130,583,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCATGACTGCGAGGAATGGAAAG -3'
(R):5'- TGTAAGCAGGAACAGCCCAAGC -3'
Sequencing Primer
(F):5'- AAAGGGTTAACAGTGTGTTTCC -3'
(R):5'- GTTTTGCCCGCAAACTATCAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation