Incidental Mutation 'IGL02092:Htra3'
| ID |
279462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Htra3
|
| Ensembl Gene |
ENSMUSG00000029096 |
| Gene Name |
HtrA serine peptidase 3 |
| Synonyms |
9530081K03Rik, 2210021K23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35809367-35837126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35828416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 155
(K155E)
|
| 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: K155E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084910
Gene: ENSMUSG00000029096
AA Change: K155E
| 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: K155E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109871
Gene: ENSMUSG00000029096
AA Change: K155E
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,784,637 (GRCm39) |
T234A |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
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 |
|
|
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 |
|
|
R5316:Htra3
|
UTSW |
5 |
35,821,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation