Incidental Mutation 'R1180:Htra4'
| ID |
101486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra4
|
| Ensembl Gene |
ENSMUSG00000037406 |
| Gene Name |
HtrA serine peptidase 4 |
| Synonyms |
B430206E18Rik |
| MMRRC Submission |
039252-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25514945-25528978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25523735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 277
(L277I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084031]
|
| AlphaFold |
A2RT60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084031
AA Change: L277I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: L277I
| 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
|
| Meta Mutation Damage Score |
0.3456 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.5%
|
| Validation Efficiency |
98% (55/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,141 (GRCm39) |
D281E |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,134,467 (GRCm39) |
V645G |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,457,836 (GRCm38) |
|
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Chd8 |
A |
C |
14: 52,458,565 (GRCm39) |
S848A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
| Cpd |
T |
C |
11: 76,692,579 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,690,413 (GRCm39) |
E173G |
possibly damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,731 (GRCm39) |
|
noncoding transcript |
Het |
| Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,570 (GRCm39) |
Y630H |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,921 (GRCm39) |
V129F |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Jak2 |
A |
G |
19: 29,259,899 (GRCm39) |
Y266C |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Kiz |
C |
T |
2: 146,811,927 (GRCm39) |
R679C |
unknown |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mipep |
G |
A |
14: 61,071,505 (GRCm39) |
V537I |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,167 (GRCm39) |
T168S |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,209 (GRCm39) |
R434H |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,181,925 (GRCm39) |
I1792T |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,446,908 (GRCm39) |
S450P |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,160,543 (GRCm39) |
D284V |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Psmd8 |
A |
T |
7: 28,874,825 (GRCm39) |
V248E |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,301,285 (GRCm39) |
Y646C |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,670,536 (GRCm39) |
G189E |
probably damaging |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,877 (GRCm39) |
H59Y |
probably damaging |
Het |
| Shb |
T |
C |
4: 45,423,996 (GRCm39) |
I486V |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tk1 |
A |
G |
11: 117,712,921 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,102,700 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
C |
A |
1: 78,643,162 (GRCm39) |
N353K |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
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 |
|
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 |
|
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'- TCTTCTAGGCTGTGAACAGAC -3'
(R):5'- AGCAAGGACCtgtgtgtg -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation