Incidental Mutation 'R1075:Htra4'
| ID |
85610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra4
|
| Ensembl Gene |
ENSMUSG00000037406 |
| Gene Name |
HtrA serine peptidase 4 |
| Synonyms |
B430206E18Rik |
| MMRRC Submission |
039161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1075 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25523612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 318
(I318V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084031]
|
| AlphaFold |
A2RT60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084031
AA Change: I318V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: I318V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
C |
4: 32,822,232 (GRCm39) |
H179R |
probably damaging |
Het |
| Apbb2 |
G |
T |
5: 66,460,021 (GRCm39) |
P692Q |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,391,567 (GRCm39) |
N627D |
possibly damaging |
Het |
| Asns |
G |
A |
6: 7,676,076 (GRCm39) |
R465* |
probably null |
Het |
| Bdkrb1 |
G |
A |
12: 105,570,562 (GRCm39) |
V43I |
probably benign |
Het |
| Bod1 |
T |
C |
11: 31,621,514 (GRCm39) |
D63G |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,310 (GRCm39) |
K685* |
probably null |
Het |
| Dennd5a |
A |
T |
7: 109,517,808 (GRCm39) |
D609E |
probably benign |
Het |
| Dhx34 |
G |
C |
7: 15,952,274 (GRCm39) |
T117S |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,182,630 (GRCm39) |
D550E |
probably benign |
Het |
| Enah |
C |
T |
1: 181,784,066 (GRCm39) |
R81K |
unknown |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,423,212 (GRCm39) |
M298L |
probably benign |
Het |
| Fam81a |
G |
A |
9: 70,017,556 (GRCm39) |
R130* |
probably null |
Het |
| Fbxl3 |
A |
C |
14: 103,332,839 (GRCm39) |
H46Q |
probably benign |
Het |
| Gal3st1 |
A |
G |
11: 3,948,509 (GRCm39) |
I239V |
possibly damaging |
Het |
| H2-T15 |
C |
T |
17: 36,367,038 (GRCm39) |
G335D |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Il7r |
T |
C |
15: 9,516,543 (GRCm39) |
N86S |
probably benign |
Het |
| Mettl17 |
A |
G |
14: 52,127,063 (GRCm39) |
N231D |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,299,040 (GRCm39) |
D1998G |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,940,417 (GRCm39) |
R789L |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,224,860 (GRCm39) |
V569A |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,503,588 (GRCm39) |
I617M |
probably damaging |
Het |
| Nlrp1b |
C |
G |
11: 71,072,512 (GRCm39) |
E444Q |
probably benign |
Het |
| Or10ak16 |
T |
C |
4: 118,750,402 (GRCm39) |
S41P |
probably damaging |
Het |
| Or2b4 |
T |
A |
17: 38,116,660 (GRCm39) |
L208* |
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,035,677 (GRCm39) |
I227F |
possibly damaging |
Het |
| Psmd2 |
T |
C |
16: 20,478,709 (GRCm39) |
S603P |
probably damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,644,055 (GRCm39) |
I913N |
possibly damaging |
Het |
| Smyd4 |
T |
C |
11: 75,291,164 (GRCm39) |
Y589H |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,000,992 (GRCm39) |
E1850G |
probably damaging |
Het |
| Srsf11 |
A |
T |
3: 157,718,427 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,058,687 (GRCm39) |
N488I |
possibly damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,362 (GRCm39) |
Q160* |
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,104,393 (GRCm39) |
P583L |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,839,808 (GRCm39) |
F117I |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,245,677 (GRCm39) |
N307K |
probably benign |
Het |
| Zfp994 |
T |
A |
17: 22,419,926 (GRCm39) |
H341L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGCAGTGACCTCTGCATC -3'
(R):5'- AGCCATCTCCCTGGAAGCTAGAAG -3'
Sequencing Primer
(F):5'- ATCAAGCCCTGAGCATGGTG -3'
(R):5'- tgtgtgtgtgCTGGTTCAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation