Incidental Mutation 'R0906:Htra4'
ID |
83324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Htra4
|
Ensembl Gene |
ENSMUSG00000037406 |
Gene Name |
HtrA serine peptidase 4 |
Synonyms |
B430206E18Rik |
MMRRC Submission |
039064-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25527160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 212
(I212L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064883]
[ENSMUST00000084031]
[ENSMUST00000128715]
|
AlphaFold |
A2RT60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064883
|
SMART Domains |
Protein: ENSMUSP00000066546 Gene: ENSMUSG00000031557
Domain | Start | End | E-Value | Type |
PH
|
8 |
115 |
3.11e-10 |
SMART |
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084031
AA Change: I212L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000081044 Gene: ENSMUSG00000037406 AA Change: I212L
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 |
probably benign
Transcript: ENSMUST00000128715
|
SMART Domains |
Protein: ENSMUSP00000122564 Gene: ENSMUSG00000031557
Domain | Start | End | E-Value | Type |
PH
|
8 |
115 |
3.11e-10 |
SMART |
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141741
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211059
|
Meta Mutation Damage Score |
0.1372 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
100% (33/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
T |
A |
1: 130,665,430 (GRCm39) |
|
probably benign |
Het |
Atp7b |
T |
C |
8: 22,517,842 (GRCm39) |
H332R |
probably benign |
Het |
Bace2 |
C |
T |
16: 97,158,141 (GRCm39) |
P47L |
possibly damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,499,315 (GRCm39) |
M1V |
probably null |
Het |
Dcbld2 |
A |
G |
16: 58,275,610 (GRCm39) |
E442G |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,642,308 (GRCm39) |
T660A |
probably damaging |
Het |
Gm4945 |
A |
C |
17: 47,353,796 (GRCm39) |
|
noncoding transcript |
Het |
Gm6729 |
T |
C |
10: 86,376,456 (GRCm39) |
|
noncoding transcript |
Het |
Golga1 |
G |
A |
2: 38,937,655 (GRCm39) |
R204W |
probably damaging |
Het |
Guf1 |
T |
C |
5: 69,723,729 (GRCm39) |
I348T |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
Lgalsl2 |
T |
C |
7: 5,362,828 (GRCm39) |
I153T |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,425,403 (GRCm39) |
V1520A |
probably benign |
Het |
Nuak1 |
C |
T |
10: 84,211,144 (GRCm39) |
V315I |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,213,827 (GRCm39) |
G1740C |
probably damaging |
Het |
Or1r1 |
G |
C |
11: 73,874,685 (GRCm39) |
L250V |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,726,700 (GRCm39) |
|
probably benign |
Het |
Pik3r6 |
T |
C |
11: 68,426,927 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,292,556 (GRCm39) |
F1336I |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,345,291 (GRCm39) |
I355T |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,104,048 (GRCm39) |
|
probably benign |
Het |
Sec63 |
T |
A |
10: 42,677,924 (GRCm39) |
M312K |
probably damaging |
Het |
Slc2a5 |
T |
C |
4: 150,227,287 (GRCm39) |
I401T |
probably benign |
Het |
Slc9a8 |
G |
T |
2: 167,276,787 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
C |
14: 30,867,206 (GRCm39) |
E1718G |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,179,268 (GRCm39) |
I640N |
probably damaging |
Het |
Tmem217 |
A |
G |
17: 29,745,490 (GRCm39) |
L80P |
probably damaging |
Het |
Topbp1 |
C |
T |
9: 103,205,792 (GRCm39) |
P810L |
probably benign |
Het |
Ttbk2 |
G |
A |
2: 120,614,262 (GRCm39) |
R151C |
probably damaging |
Het |
Vmn2r88 |
T |
G |
14: 51,655,666 (GRCm39) |
L626R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTCGATCTTAATCAGTGCAAGG -3'
(R):5'- GCAGATGACAGACACACAGGTTCC -3'
Sequencing Primer
(F):5'- GATCTTAATCAGTGCAAGGTCCAG -3'
(R):5'- GTTCCCACACTGATCTAAAGGAGG -3'
|
Posted On |
2013-11-08 |