Incidental Mutation 'R2896:Prss1'
| ID |
260794 |
| 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 |
040484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
41435866-41440720 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 41440639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 238
(W238*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031910]
|
| AlphaFold |
Q9Z1R9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031910
AA Change: W238*
|
| SMART Domains |
Protein: ENSMUSP00000031910
Gene: ENSMUSG00000062751
AA Change: W238*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
23 |
239 |
9.87e-106 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
| Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
| Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
| Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
| Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
| Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
| Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
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 |
|
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'- GCAGCCCTATTACACATGCC -3'
(R):5'- TGTTACCAGGGGCAGCCTC -3'
Sequencing Primer
(F):5'- ACATGCCCTTACTAATACACTGTG -3'
(R):5'- TTGACAGTGACTGCAGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation