Incidental Mutation 'R0939:Prss1'
ID |
81297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prss1
|
Ensembl Gene |
ENSMUSG00000062751 |
Gene Name |
serine protease 1 (trypsin 1) |
Synonyms |
Trygn16, Try-1, PRSS1, Try1 |
MMRRC Submission |
039078-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0939 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
41435866-41440720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 41440522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 199
(D199A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031910]
|
AlphaFold |
Q9Z1R9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031910
AA Change: D199A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031910 Gene: ENSMUSG00000062751 AA Change: D199A
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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,902,969 (GRCm39) |
V419M |
probably damaging |
Het |
Cdcp1 |
A |
G |
9: 123,012,755 (GRCm39) |
V264A |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,438,801 (GRCm39) |
D326G |
probably null |
Het |
Dach1 |
A |
G |
14: 98,153,360 (GRCm39) |
V436A |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,024,142 (GRCm39) |
G1870S |
probably damaging |
Het |
Dst |
C |
A |
1: 34,283,464 (GRCm39) |
H5324N |
probably damaging |
Het |
Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,732,734 (GRCm39) |
|
probably benign |
Het |
Esd |
C |
A |
14: 74,973,467 (GRCm39) |
H21N |
probably damaging |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Igdcc4 |
T |
A |
9: 65,038,755 (GRCm39) |
|
probably null |
Het |
Mug1 |
A |
T |
6: 121,861,308 (GRCm39) |
I1310F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Or10a3b |
T |
A |
7: 108,444,440 (GRCm39) |
Y259F |
probably damaging |
Het |
Or10h5 |
T |
C |
17: 33,434,635 (GRCm39) |
K231E |
possibly damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,997 (GRCm39) |
L284* |
probably null |
Het |
Pcdh17 |
A |
G |
14: 84,685,195 (GRCm39) |
D554G |
probably damaging |
Het |
Plcxd3 |
T |
A |
15: 4,546,344 (GRCm39) |
L116* |
probably null |
Het |
Rbms3 |
C |
T |
9: 116,939,028 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,116,207 (GRCm39) |
M1189V |
probably benign |
Het |
Slc25a39 |
T |
C |
11: 102,295,877 (GRCm39) |
E118G |
probably damaging |
Het |
Slfn5 |
G |
T |
11: 82,852,164 (GRCm39) |
M763I |
probably benign |
Het |
Speer4f2 |
A |
G |
5: 17,579,402 (GRCm39) |
E67G |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,704,636 (GRCm39) |
|
probably null |
Het |
Spocd1 |
A |
T |
4: 129,842,663 (GRCm39) |
D26V |
possibly damaging |
Het |
Ssh1 |
A |
G |
5: 114,108,497 (GRCm39) |
L50P |
probably damaging |
Het |
Tle1 |
A |
G |
4: 72,036,771 (GRCm39) |
L728P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,741,336 (GRCm39) |
|
probably null |
Het |
Tubb1 |
G |
A |
2: 174,297,549 (GRCm39) |
E53K |
probably damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,272,889 (GRCm39) |
T568S |
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 |
|
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 |
R2959:Prss1
|
UTSW |
6 |
41,440,172 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GCAAGGATTCCTGCCAGGTGATTG -3'
(R):5'- TTACCAGGGGCAGCCTCCCTTC -3'
Sequencing Primer
(F):5'- AGTTGAGCTTCAAAGCCTAGTG -3'
(R):5'- TTCACTTTATTGACAGTGACTGC -3'
|
Posted On |
2013-11-07 |