Incidental Mutation 'IGL01738:Htra4'
| ID |
105772 |
| 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 # |
IGL01738
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25515727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 437
(V437A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033961]
[ENSMUST00000084031]
[ENSMUST00000210536]
[ENSMUST00000210758]
|
| AlphaFold |
A2RT60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033961
|
| SMART Domains |
Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:TM2
|
145 |
194 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084031
AA Change: V437A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: V437A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210758
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
| Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
| Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
| Cnbd2 |
C |
A |
2: 156,217,537 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
| Glt1d1 |
T |
G |
5: 127,709,419 (GRCm39) |
|
probably benign |
Het |
| Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
| Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
| Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
| Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
| Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
| Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,097,091 (GRCm39) |
L124R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,224,164 (GRCm39) |
I95V |
probably benign |
Het |
| Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
| Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,918,308 (GRCm39) |
L438Q |
probably damaging |
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 |
|
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 |
2014-01-21 |
Incidental Mutation