Incidental Mutation 'T0970:Prss38'
| ID |
67265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss38
|
| Ensembl Gene |
ENSMUSG00000049291 |
| Gene Name |
serine protease 38 |
| Synonyms |
Gm249, LOC216797 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
T0970 (G3)
of strain
713
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59263495-59266483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59263974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 246
(V246A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061481]
|
| AlphaFold |
Q3UKY7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061481
AA Change: V246A
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052010
Gene: ENSMUSG00000049291
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
55 |
284 |
7.08e-75 |
SMART |
|
low complexity region
|
288 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133698
|
| Meta Mutation Damage Score |
0.2990 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (25/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
T |
10: 88,817,052 (GRCm39) |
L591* |
probably null |
Het |
| Aqp4 |
A |
G |
18: 15,532,940 (GRCm39) |
L51P |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,632,354 (GRCm39) |
C403S |
probably damaging |
Het |
| Cfap74 |
G |
T |
4: 155,547,574 (GRCm39) |
|
probably null |
Het |
| Glis3 |
G |
A |
19: 28,508,332 (GRCm39) |
R551W |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,674,740 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Map3k14 |
G |
T |
11: 103,115,124 (GRCm39) |
C837* |
probably null |
Het |
| Mrc2 |
A |
C |
11: 105,238,453 (GRCm39) |
E1200A |
probably benign |
Het |
| Nfix |
T |
C |
8: 85,453,112 (GRCm39) |
N314S |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,640,836 (GRCm39) |
S1068P |
probably damaging |
Het |
| Nup98 |
A |
C |
7: 101,835,959 (GRCm39) |
|
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,464 (GRCm39) |
R7G |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,278,388 (GRCm39) |
V456A |
possibly damaging |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Rnf26 |
C |
G |
9: 44,023,369 (GRCm39) |
R172P |
probably damaging |
Het |
| Septin4 |
A |
T |
11: 87,458,558 (GRCm39) |
T311S |
probably damaging |
Het |
| Serinc3 |
TATCATC |
TATC |
2: 163,469,835 (GRCm39) |
|
probably benign |
Het |
| Spire1 |
C |
A |
18: 67,634,133 (GRCm39) |
|
probably null |
Het |
| Tex2 |
T |
A |
11: 106,437,772 (GRCm39) |
I633F |
unknown |
Het |
| Tle2 |
A |
G |
10: 81,416,119 (GRCm39) |
D108G |
possibly damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,260,523 (GRCm39) |
V185A |
probably damaging |
Het |
| Unc45b |
C |
A |
11: 82,813,714 (GRCm39) |
H374N |
probably benign |
Het |
| Wtap |
T |
C |
17: 13,188,277 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Prss38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03075:Prss38
|
APN |
11 |
59,263,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Prss38
|
UTSW |
11 |
59,266,467 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0001:Prss38
|
UTSW |
11 |
59,264,006 (GRCm39) |
splice site |
probably benign |
|
|
R0097:Prss38
|
UTSW |
11 |
59,266,434 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0097:Prss38
|
UTSW |
11 |
59,266,434 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0540:Prss38
|
UTSW |
11 |
59,266,369 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0607:Prss38
|
UTSW |
11 |
59,266,369 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1966:Prss38
|
UTSW |
11 |
59,264,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Prss38
|
UTSW |
11 |
59,263,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Prss38
|
UTSW |
11 |
59,263,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Prss38
|
UTSW |
11 |
59,264,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Prss38
|
UTSW |
11 |
59,263,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5061:Prss38
|
UTSW |
11 |
59,265,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5219:Prss38
|
UTSW |
11 |
59,266,309 (GRCm39) |
splice site |
probably benign |
|
|
R5306:Prss38
|
UTSW |
11 |
59,263,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Prss38
|
UTSW |
11 |
59,263,850 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7286:Prss38
|
UTSW |
11 |
59,266,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7860:Prss38
|
UTSW |
11 |
59,265,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Prss38
|
UTSW |
11 |
59,265,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGCAGGTGCCCCATTATG -3'
(R):5'- TGGAAGCCCAGTTGCCACTAATC -3'
Sequencing Primer
(F):5'- AGGTGCCCCATTATGGTCAC -3'
(R):5'- GGGCATACCTGGTCTAGTAGATCA -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation