Incidental Mutation 'R5316:Htra3'
| ID |
500937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra3
|
| Ensembl Gene |
ENSMUSG00000029096 |
| Gene Name |
HtrA serine peptidase 3 |
| Synonyms |
9530081K03Rik, 2210021K23Rik |
| MMRRC Submission |
042899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
35809367-35837126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35821420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 319
(D319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087629]
[ENSMUST00000114233]
[ENSMUST00000129459]
[ENSMUST00000137935]
[ENSMUST00000201028]
|
| AlphaFold |
Q9D236 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087629
AA Change: D319G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084910
Gene: ENSMUSG00000029096
AA Change: D319G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IB
|
29 |
89 |
1.6e-3 |
SMART |
|
KAZAL
|
86 |
132 |
1.59e-7 |
SMART |
|
Pfam:Trypsin
|
171 |
347 |
7.4e-15 |
PFAM |
|
Pfam:Trypsin_2
|
181 |
325 |
1.4e-31 |
PFAM |
|
PDZ
|
361 |
446 |
5.13e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114233
AA Change: D319G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109871
Gene: ENSMUSG00000029096
AA Change: D319G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IB
|
29 |
89 |
1.6e-3 |
SMART |
|
KAZAL
|
86 |
132 |
1.59e-7 |
SMART |
|
Pfam:Trypsin
|
171 |
347 |
4.4e-15 |
PFAM |
|
Pfam:Trypsin_2
|
181 |
325 |
7.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129459
|
| SMART Domains |
Protein: ENSMUSP00000144550
Gene: ENSMUSG00000029096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trypsin_2
|
1 |
53 |
4.8e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201028
|
| SMART Domains |
Protein: ENSMUSP00000144597
Gene: ENSMUSG00000029096
| Domain | Start | End | E-Value | Type |
|---|
|
KAZAL
|
2 |
49 |
1.2e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
| Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
| Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
| Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
| H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
| Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
| Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
| Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
| Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
| Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
| Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
probably damaging |
Het |
|
| Other mutations in Htra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Htra3
|
APN |
5 |
35,821,420 (GRCm39) |
splice site |
probably null |
|
|
IGL02092:Htra3
|
APN |
5 |
35,828,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02164:Htra3
|
APN |
5 |
35,810,410 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03123:Htra3
|
APN |
5 |
35,823,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Htra3
|
UTSW |
5 |
35,828,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Htra3
|
UTSW |
5 |
35,811,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0962:Htra3
|
UTSW |
5 |
35,825,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3785:Htra3
|
UTSW |
5 |
35,828,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4995:Htra3
|
UTSW |
5 |
35,828,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4999:Htra3
|
UTSW |
5 |
35,828,469 (GRCm39) |
missense |
probably benign |
|
|
R5940:Htra3
|
UTSW |
5 |
35,810,324 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7077:Htra3
|
UTSW |
5 |
35,825,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Htra3
|
UTSW |
5 |
35,810,305 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8459:Htra3
|
UTSW |
5 |
35,828,569 (GRCm39) |
intron |
probably benign |
|
|
R8789:Htra3
|
UTSW |
5 |
35,836,602 (GRCm39) |
missense |
unknown |
|
|
R8986:Htra3
|
UTSW |
5 |
35,836,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9304:Htra3
|
UTSW |
5 |
35,836,515 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9589:Htra3
|
UTSW |
5 |
35,821,409 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9665:Htra3
|
UTSW |
5 |
35,836,654 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTATACATAGCTCCTGCAG -3'
(R):5'- TCCCCAGGATTTGGTGGTAC -3'
Sequencing Primer
(F):5'- CTGGCTCACATGGGTGG -3'
(R):5'- TACACAGGGTGGGGCACTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation