Incidental Mutation 'R2959:Prss1'
| ID |
255856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prss1
|
| Ensembl Gene |
ENSMUSG00000062751 |
| Gene Name |
serine protease 1 (trypsin 1) |
| Synonyms |
Trygn16, Try-1, PRSS1, Try1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
41435866-41440720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41440172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 170
(D170Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031910]
|
| AlphaFold |
Q9Z1R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031910
AA Change: D170Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031910
Gene: ENSMUSG00000062751
AA Change: D170Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
23 |
239 |
9.87e-106 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Dnajc16 |
T |
A |
4: 141,493,856 (GRCm39) |
K571* |
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm5407 |
A |
T |
16: 49,117,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| H2-M2 |
T |
C |
17: 37,794,345 (GRCm39) |
T26A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Prpf39 |
T |
C |
12: 65,089,297 (GRCm39) |
S12P |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,331 (GRCm39) |
D441G |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,068 (GRCm39) |
L261* |
probably null |
Het |
| Zfp719 |
T |
A |
7: 43,239,851 (GRCm39) |
S480T |
possibly damaging |
Het |
|
| Other mutations in Prss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Prss1
|
APN |
6 |
41,439,645 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00661:Prss1
|
APN |
6 |
41,439,553 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01780:Prss1
|
APN |
6 |
41,440,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02350:Prss1
|
APN |
6 |
41,440,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02357:Prss1
|
APN |
6 |
41,440,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0090:Prss1
|
UTSW |
6 |
41,438,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0137:Prss1
|
UTSW |
6 |
41,439,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Prss1
|
UTSW |
6 |
41,440,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Prss1
|
UTSW |
6 |
41,440,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Prss1
|
UTSW |
6 |
41,435,878 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0939:Prss1
|
UTSW |
6 |
41,440,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2762:Prss1
|
UTSW |
6 |
41,440,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2896:Prss1
|
UTSW |
6 |
41,440,639 (GRCm39) |
nonsense |
probably null |
|
|
R2915:Prss1
|
UTSW |
6 |
41,439,545 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5123:Prss1
|
UTSW |
6 |
41,440,131 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5587:Prss1
|
UTSW |
6 |
41,440,199 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5610:Prss1
|
UTSW |
6 |
41,438,147 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6521:Prss1
|
UTSW |
6 |
41,440,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Prss1
|
UTSW |
6 |
41,440,654 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7199:Prss1
|
UTSW |
6 |
41,439,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Prss1
|
UTSW |
6 |
41,439,507 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8812:Prss1
|
UTSW |
6 |
41,439,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9136:Prss1
|
UTSW |
6 |
41,438,280 (GRCm39) |
splice site |
probably benign |
|
|
R9255:Prss1
|
UTSW |
6 |
41,438,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTGATCCCCAGAATGCTG -3'
(R):5'- ACCACAGCACACTTTCTGTC -3'
Sequencing Primer
(F):5'- ACATCAGCAGTGCATATTGTGG -3'
(R):5'- GTCTCACACCACTAGGCTTTGAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation