Incidental Mutation 'IGL01561:Htra4'
| ID |
90855 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htra4
|
| Ensembl Gene |
ENSMUSG00000037406 |
| Gene Name |
HtrA serine peptidase 4 |
| Synonyms |
B430206E18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 25523587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 326
(I326S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084031]
|
| AlphaFold |
A2RT60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084031
AA Change: I326S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: I326S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IB
|
37 |
112 |
5.44e-7 |
SMART |
|
KAZAL
|
109 |
158 |
7.92e-4 |
SMART |
|
Pfam:Trypsin
|
182 |
368 |
5.5e-15 |
PFAM |
|
Pfam:Trypsin_2
|
208 |
346 |
2.1e-34 |
PFAM |
|
PDZ
|
385 |
470 |
5.34e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211059
|
| 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 HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
G |
A |
11: 5,821,349 (GRCm39) |
D583N |
probably damaging |
Het |
| Aoah |
G |
T |
13: 21,189,264 (GRCm39) |
D496Y |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,089,905 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
T |
15: 19,000,012 (GRCm39) |
A486S |
possibly damaging |
Het |
| Cers2 |
A |
T |
3: 95,229,472 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
T |
A |
6: 123,000,975 (GRCm39) |
C229* |
probably null |
Het |
| Col15a1 |
T |
C |
4: 47,312,118 (GRCm39) |
V1311A |
possibly damaging |
Het |
| Fpr-rs3 |
C |
T |
17: 20,844,859 (GRCm39) |
G94D |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,363 (GRCm39) |
M269K |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,186,689 (GRCm39) |
M73V |
probably benign |
Het |
| Gusb |
A |
T |
5: 130,026,927 (GRCm39) |
V388E |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,587,038 (GRCm39) |
N1267S |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,128,888 (GRCm39) |
I780M |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,578,556 (GRCm39) |
S181P |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,202,851 (GRCm39) |
H1882R |
probably damaging |
Het |
| Muc13 |
A |
G |
16: 33,626,411 (GRCm39) |
K317E |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,619,472 (GRCm39) |
F440S |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,172 (GRCm39) |
R831H |
probably damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,269 (GRCm39) |
F159L |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,886,955 (GRCm39) |
F44L |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,818 (GRCm39) |
M139V |
probably benign |
Het |
| Palmd |
A |
T |
3: 116,717,742 (GRCm39) |
S252T |
probably damaging |
Het |
| Piezo2 |
C |
A |
18: 63,257,685 (GRCm39) |
M344I |
probably benign |
Het |
| Pygo1 |
T |
A |
9: 72,852,570 (GRCm39) |
N252K |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,221 (GRCm39) |
Q262R |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,232,706 (GRCm39) |
Y409H |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,462,128 (GRCm39) |
E1017V |
unknown |
Het |
|
| Other mutations in Htra4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01738:Htra4
|
APN |
8 |
25,515,727 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02307:Htra4
|
APN |
8 |
25,523,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Htra4
|
APN |
8 |
25,519,714 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0057:Htra4
|
UTSW |
8 |
25,528,824 (GRCm39) |
missense |
probably benign |
|
|
R0906:Htra4
|
UTSW |
8 |
25,527,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1075:Htra4
|
UTSW |
8 |
25,523,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1173:Htra4
|
UTSW |
8 |
25,520,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1180:Htra4
|
UTSW |
8 |
25,523,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Htra4
|
UTSW |
8 |
25,523,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Htra4
|
UTSW |
8 |
25,523,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2225:Htra4
|
UTSW |
8 |
25,515,736 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4457:Htra4
|
UTSW |
8 |
25,528,674 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4626:Htra4
|
UTSW |
8 |
25,527,130 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4746:Htra4
|
UTSW |
8 |
25,523,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Htra4
|
UTSW |
8 |
25,523,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Htra4
|
UTSW |
8 |
25,523,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6846:Htra4
|
UTSW |
8 |
25,520,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Htra4
|
UTSW |
8 |
25,515,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7067:Htra4
|
UTSW |
8 |
25,523,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Htra4
|
UTSW |
8 |
25,523,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Htra4
|
UTSW |
8 |
25,527,181 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7603:Htra4
|
UTSW |
8 |
25,515,716 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7725:Htra4
|
UTSW |
8 |
25,527,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7729:Htra4
|
UTSW |
8 |
25,527,093 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7893:Htra4
|
UTSW |
8 |
25,523,695 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7988:Htra4
|
UTSW |
8 |
25,520,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8140:Htra4
|
UTSW |
8 |
25,520,574 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9169:Htra4
|
UTSW |
8 |
25,520,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Htra4
|
UTSW |
8 |
25,527,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9229:Htra4
|
UTSW |
8 |
25,528,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation