Incidental Mutation 'R0906:Htra4'
| ID |
83324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra4
|
| Ensembl Gene |
ENSMUSG00000037406 |
| Gene Name |
HtrA serine peptidase 4 |
| Synonyms |
|
| 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 |
25024929-25038962 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25037144 bp (GRCm38)
|
| 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: 130,737,693 (GRCm38) |
|
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,027,826 (GRCm38) |
H332R |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,356,941 (GRCm38) |
P47L |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,510,871 (GRCm38) |
M1V |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,455,247 (GRCm38) |
E442G |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 182,000,515 (GRCm38) |
T660A |
probably damaging |
Het |
| Gm4945 |
A |
C |
17: 47,042,870 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5065 |
T |
C |
7: 5,359,829 (GRCm38) |
I153T |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,540,592 (GRCm38) |
|
noncoding transcript |
Het |
| Golga1 |
G |
A |
2: 39,047,643 (GRCm38) |
R204W |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,566,386 (GRCm38) |
I348T |
probably damaging |
Het |
| Itih5 |
G |
A |
2: 10,249,188 (GRCm38) |
R750Q |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,161,854 (GRCm38) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,161,860 (GRCm38) |
G556D |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,277,590 (GRCm38) |
V1520A |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,375,280 (GRCm38) |
V315I |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,236,892 (GRCm38) |
G1740C |
probably damaging |
Het |
| Olfr398 |
G |
C |
11: 73,983,859 (GRCm38) |
L250V |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,676,686 (GRCm38) |
|
probably benign |
Het |
| Pik3r6 |
T |
C |
11: 68,536,101 (GRCm38) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,253,397 (GRCm38) |
F1336I |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,514,947 (GRCm38) |
I355T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,902 (GRCm38) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,801,928 (GRCm38) |
M312K |
probably damaging |
Het |
| Slc2a5 |
T |
C |
4: 150,142,830 (GRCm38) |
I401T |
probably benign |
Het |
| Slc9a8 |
G |
T |
2: 167,434,867 (GRCm38) |
|
probably benign |
Het |
| Stab1 |
T |
C |
14: 31,145,249 (GRCm38) |
E1718G |
probably benign |
Het |
| Terb1 |
A |
T |
8: 104,452,636 (GRCm38) |
I640N |
probably damaging |
Het |
| Tmem217 |
A |
G |
17: 29,526,516 (GRCm38) |
L80P |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,328,593 (GRCm38) |
P810L |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,783,781 (GRCm38) |
R151C |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,418,209 (GRCm38) |
L626R |
probably damaging |
Het |
|
| Other mutations in Htra4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Htra4
|
APN |
8 |
25,033,571 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01738:Htra4
|
APN |
8 |
25,025,711 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02307:Htra4
|
APN |
8 |
25,033,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03382:Htra4
|
APN |
8 |
25,029,698 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0057:Htra4
|
UTSW |
8 |
25,038,808 (GRCm38) |
missense |
probably benign |
|
|
R1075:Htra4
|
UTSW |
8 |
25,033,596 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1173:Htra4
|
UTSW |
8 |
25,030,619 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1180:Htra4
|
UTSW |
8 |
25,033,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Htra4
|
UTSW |
8 |
25,033,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Htra4
|
UTSW |
8 |
25,033,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2225:Htra4
|
UTSW |
8 |
25,025,720 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4457:Htra4
|
UTSW |
8 |
25,038,658 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4626:Htra4
|
UTSW |
8 |
25,037,114 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4746:Htra4
|
UTSW |
8 |
25,033,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4797:Htra4
|
UTSW |
8 |
25,033,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Htra4
|
UTSW |
8 |
25,033,569 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6846:Htra4
|
UTSW |
8 |
25,030,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6911:Htra4
|
UTSW |
8 |
25,025,705 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7067:Htra4
|
UTSW |
8 |
25,033,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7367:Htra4
|
UTSW |
8 |
25,033,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7446:Htra4
|
UTSW |
8 |
25,037,165 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7603:Htra4
|
UTSW |
8 |
25,025,700 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7725:Htra4
|
UTSW |
8 |
25,037,153 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7729:Htra4
|
UTSW |
8 |
25,037,077 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7893:Htra4
|
UTSW |
8 |
25,033,679 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7988:Htra4
|
UTSW |
8 |
25,030,510 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8140:Htra4
|
UTSW |
8 |
25,030,558 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9169:Htra4
|
UTSW |
8 |
25,030,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9223:Htra4
|
UTSW |
8 |
25,037,032 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9229:Htra4
|
UTSW |
8 |
25,038,541 (GRCm38) |
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 |
Incidental Mutation