Incidental Mutation 'R6446:Prss35'
| ID |
519196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss35
|
| Ensembl Gene |
ENSMUSG00000033491 |
| Gene Name |
serine protease 35 |
| Synonyms |
6030424L22Rik |
| MMRRC Submission |
044583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86625702-86640496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86637706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 159
(V159F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036426]
[ENSMUST00000179574]
|
| AlphaFold |
Q8C0F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036426
AA Change: V159F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035271
Gene: ENSMUSG00000033491
AA Change: V159F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
132 |
399 |
4.13e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179574
AA Change: V159F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137445
Gene: ENSMUSG00000033491
AA Change: V159F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
132 |
399 |
4.13e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a3 |
A |
G |
16: 30,180,687 (GRCm39) |
L114P |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,905,992 (GRCm39) |
I196V |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,752 (GRCm39) |
S106T |
probably benign |
Het |
| Ccar2 |
T |
A |
14: 70,380,518 (GRCm39) |
E354V |
probably benign |
Het |
| Ccr1 |
A |
G |
9: 123,764,143 (GRCm39) |
I129T |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,181,076 (GRCm39) |
I188F |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,900 (GRCm39) |
N2648D |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,940,218 (GRCm39) |
S658P |
probably benign |
Het |
| Csnka2ip |
G |
A |
16: 64,299,744 (GRCm39) |
Q207* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,493,873 (GRCm39) |
L1253P |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,350,689 (GRCm39) |
I374K |
probably damaging |
Het |
| Dut |
T |
C |
2: 125,092,939 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
T |
C |
9: 77,967,065 (GRCm39) |
Y95H |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,577 (GRCm39) |
I526F |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,472,438 (GRCm39) |
Y2725N |
possibly damaging |
Het |
| Helq |
A |
T |
5: 100,916,250 (GRCm39) |
N907K |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,843,435 (GRCm39) |
Q246* |
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,378,840 (GRCm39) |
D125G |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,118 (GRCm39) |
H247Y |
probably benign |
Het |
| Kif27 |
C |
A |
13: 58,493,530 (GRCm39) |
V138F |
probably damaging |
Het |
| Map7 |
T |
G |
10: 20,153,979 (GRCm39) |
D698E |
unknown |
Het |
| Mtmr11 |
A |
T |
3: 96,078,504 (GRCm39) |
S687C |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nup210l |
G |
A |
3: 90,079,375 (GRCm39) |
G953E |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,310 (GRCm39) |
I115N |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,219,678 (GRCm39) |
P792T |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,237,156 (GRCm39) |
D241G |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,793 (GRCm39) |
M1406L |
probably benign |
Het |
| Serpina3g |
T |
C |
12: 104,205,341 (GRCm39) |
F27L |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,299,862 (GRCm39) |
|
probably benign |
Het |
| Sh3glb1 |
T |
C |
3: 144,411,366 (GRCm39) |
K13E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,171 (GRCm39) |
I217N |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 100,010,448 (GRCm39) |
T1981S |
probably benign |
Het |
| Svil |
A |
C |
18: 5,057,323 (GRCm39) |
E590D |
probably benign |
Het |
| Synm |
A |
G |
7: 67,384,714 (GRCm39) |
S541P |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,609 (GRCm39) |
Y82* |
probably null |
Het |
|
| Other mutations in Prss35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Prss35
|
APN |
9 |
86,637,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02749:Prss35
|
APN |
9 |
86,638,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Prss35
|
UTSW |
9 |
86,637,404 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0403:Prss35
|
UTSW |
9 |
86,638,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Prss35
|
UTSW |
9 |
86,637,700 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2016:Prss35
|
UTSW |
9 |
86,637,565 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2017:Prss35
|
UTSW |
9 |
86,637,565 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2325:Prss35
|
UTSW |
9 |
86,638,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2429:Prss35
|
UTSW |
9 |
86,637,398 (GRCm39) |
missense |
probably benign |
|
|
R2965:Prss35
|
UTSW |
9 |
86,637,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Prss35
|
UTSW |
9 |
86,637,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Prss35
|
UTSW |
9 |
86,637,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4792:Prss35
|
UTSW |
9 |
86,637,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Prss35
|
UTSW |
9 |
86,638,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Prss35
|
UTSW |
9 |
86,637,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6753:Prss35
|
UTSW |
9 |
86,638,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Prss35
|
UTSW |
9 |
86,638,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7387:Prss35
|
UTSW |
9 |
86,637,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Prss35
|
UTSW |
9 |
86,637,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Prss35
|
UTSW |
9 |
86,637,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7652:Prss35
|
UTSW |
9 |
86,638,023 (GRCm39) |
missense |
probably benign |
|
|
R8013:Prss35
|
UTSW |
9 |
86,637,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Prss35
|
UTSW |
9 |
86,637,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8871:Prss35
|
UTSW |
9 |
86,637,244 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9444:Prss35
|
UTSW |
9 |
86,638,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Prss35
|
UTSW |
9 |
86,638,392 (GRCm39) |
missense |
|
|
|
R9695:Prss35
|
UTSW |
9 |
86,637,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGACCATCTTCGAGAATGGC -3'
(R):5'- TGACTTTGACCAGCACTCTCTG -3'
Sequencing Primer
(F):5'- ATCTTCGAGAATGGCACCCG -3'
(R):5'- GCACTCTCTGCTTCTCTCCGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation