Incidental Mutation 'R4202:Prss43'
| ID |
318796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss43
|
| Ensembl Gene |
ENSMUSG00000058398 |
| Gene Name |
serine protease 43 |
| Synonyms |
LOC272643, Tessp3 |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110655758-110660575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110656529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 72
(V72D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077549]
[ENSMUST00000141089]
|
| AlphaFold |
Q76HL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077549
AA Change: V72D
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: V72D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
49 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
115 |
350 |
5.86e-58 |
SMART |
|
transmembrane domain
|
362 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141089
|
| SMART Domains |
Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
112 |
144 |
1.3e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Prss43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Prss43
|
APN |
9 |
110,658,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01636:Prss43
|
APN |
9 |
110,656,505 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03046:Prss43
|
UTSW |
9 |
110,660,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4576001:Prss43
|
UTSW |
9 |
110,656,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Prss43
|
UTSW |
9 |
110,657,580 (GRCm39) |
unclassified |
probably benign |
|
|
R0278:Prss43
|
UTSW |
9 |
110,656,430 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0883:Prss43
|
UTSW |
9 |
110,658,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Prss43
|
UTSW |
9 |
110,656,510 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2212:Prss43
|
UTSW |
9 |
110,658,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Prss43
|
UTSW |
9 |
110,658,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Prss43
|
UTSW |
9 |
110,656,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4530:Prss43
|
UTSW |
9 |
110,658,572 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4752:Prss43
|
UTSW |
9 |
110,656,836 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5009:Prss43
|
UTSW |
9 |
110,656,489 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6920:Prss43
|
UTSW |
9 |
110,657,680 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7271:Prss43
|
UTSW |
9 |
110,657,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Prss43
|
UTSW |
9 |
110,657,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7758:Prss43
|
UTSW |
9 |
110,658,459 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8257:Prss43
|
UTSW |
9 |
110,659,880 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8686:Prss43
|
UTSW |
9 |
110,658,494 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8885:Prss43
|
UTSW |
9 |
110,660,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Prss43
|
UTSW |
9 |
110,656,564 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGAACTTGGCTTGGGC -3'
(R):5'- CATGGTCAAGGTCATCCTCG -3'
Sequencing Primer
(F):5'- ACAGTGCTGGTGCCGTAG -3'
(R):5'- TCAAGGTCATCCTCGGGGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation