Incidental Mutation 'IGL03382:Htra4'
ID |
420748 |
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 # |
IGL03382
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25519714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 406
(D406G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084031]
|
AlphaFold |
A2RT60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084031
AA Change: D406G
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000081044 Gene: ENSMUSG00000037406 AA Change: D406G
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: ENSMUST00000176814
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
A |
G |
5: 103,988,926 (GRCm39) |
D831G |
possibly damaging |
Het |
Amer2 |
A |
G |
14: 60,617,331 (GRCm39) |
K509E |
possibly damaging |
Het |
Ankrd6 |
T |
C |
4: 32,808,771 (GRCm39) |
K449E |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,855,828 (GRCm39) |
P459L |
probably benign |
Het |
Atr |
C |
T |
9: 95,802,875 (GRCm39) |
R1846* |
probably null |
Het |
Brd10 |
C |
T |
19: 29,694,676 (GRCm39) |
G1606R |
probably damaging |
Het |
Ccdc159 |
C |
A |
9: 21,842,992 (GRCm39) |
|
probably null |
Het |
Ccna1 |
A |
C |
3: 54,954,698 (GRCm39) |
Y338D |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,213,089 (GRCm39) |
E36V |
probably damaging |
Het |
Cyp2c23 |
A |
G |
19: 44,003,371 (GRCm39) |
I268T |
probably damaging |
Het |
Dctn2 |
G |
T |
10: 127,114,057 (GRCm39) |
Q332H |
probably damaging |
Het |
Dnah17 |
T |
A |
11: 117,972,769 (GRCm39) |
I2055F |
probably damaging |
Het |
Dnmt3b |
A |
G |
2: 153,528,279 (GRCm39) |
H764R |
probably damaging |
Het |
Gphn |
T |
A |
12: 78,528,087 (GRCm39) |
I135K |
probably damaging |
Het |
Hnrnpul1 |
A |
G |
7: 25,450,409 (GRCm39) |
M1T |
probably null |
Het |
Klk10 |
G |
T |
7: 43,433,883 (GRCm39) |
|
probably benign |
Het |
Lilrb4a |
T |
A |
10: 51,367,616 (GRCm39) |
W53R |
probably benign |
Het |
Magel2 |
T |
C |
7: 62,028,461 (GRCm39) |
V455A |
probably benign |
Het |
Mrgprb5 |
T |
C |
7: 47,818,442 (GRCm39) |
T98A |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,951,373 (GRCm39) |
C76* |
probably null |
Het |
Myh7b |
C |
T |
2: 155,465,399 (GRCm39) |
R701C |
probably damaging |
Het |
Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
Neb |
T |
A |
2: 52,215,720 (GRCm39) |
M196L |
probably benign |
Het |
Nmd3 |
A |
G |
3: 69,642,421 (GRCm39) |
K207R |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,179,129 (GRCm39) |
R962Q |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,421,261 (GRCm39) |
K230E |
unknown |
Het |
Psme4 |
A |
G |
11: 30,757,788 (GRCm39) |
D307G |
possibly damaging |
Het |
Rnf41 |
T |
G |
10: 128,274,149 (GRCm39) |
M267R |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,836,052 (GRCm39) |
N846D |
probably benign |
Het |
Slc22a19 |
T |
A |
19: 7,659,227 (GRCm39) |
I463L |
probably benign |
Het |
Slc25a39 |
A |
T |
11: 102,297,030 (GRCm39) |
|
probably null |
Het |
Slc35b2 |
C |
T |
17: 45,877,571 (GRCm39) |
R233C |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,376,695 (GRCm39) |
L983P |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Tbc1d10a |
A |
G |
11: 4,159,984 (GRCm39) |
Y123C |
probably damaging |
Het |
Thbs4 |
A |
C |
13: 92,906,056 (GRCm39) |
I395S |
probably benign |
Het |
Triml2 |
A |
G |
8: 43,646,776 (GRCm39) |
T422A |
probably benign |
Het |
Ubn2 |
T |
C |
6: 38,417,382 (GRCm39) |
|
probably benign |
Het |
Vmn1r15 |
T |
A |
6: 57,235,555 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r80 |
A |
G |
10: 79,005,362 (GRCm39) |
E333G |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,639 (GRCm39) |
|
probably benign |
Het |
Zfp942 |
G |
A |
17: 22,148,083 (GRCm39) |
P182L |
probably benign |
Het |
|
Other mutations in Htra4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01561:Htra4
|
APN |
8 |
25,523,587 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
2016-08-02 |