Incidental Mutation 'IGL00661:Prss1'
ID |
13187 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00661
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
41435866-41440720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41439553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 95
(K95N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031910]
|
AlphaFold |
Q9Z1R9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031910
AA Change: K95N
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031910 Gene: ENSMUSG00000062751 AA Change: K95N
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
Blmh |
A |
T |
11: 76,856,758 (GRCm39) |
K118* |
probably null |
Het |
Bnip3 |
G |
A |
7: 138,499,801 (GRCm39) |
P62L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
Slc18a1 |
A |
T |
8: 69,526,383 (GRCm39) |
W102R |
probably benign |
Het |
Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
Stap1 |
A |
G |
5: 86,229,132 (GRCm39) |
H100R |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
Vmn1r223 |
T |
C |
13: 23,434,254 (GRCm39) |
S283P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
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 |
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 |
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 |
|
Posted On |
2012-12-06 |