Incidental Mutation 'IGL00325:Prss36'
ID |
5124 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss36
|
Ensembl Gene |
ENSMUSG00000070371 |
Gene Name |
serine protease 36 |
Synonyms |
C330007D15Rik, polyserase-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00325
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127531810-127545897 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 127544099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094026]
[ENSMUST00000118755]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094026
|
SMART Domains |
Protein: ENSMUSP00000091565 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
Pfam:Trypsin
|
325 |
556 |
1.2e-16 |
PFAM |
Pfam:Trypsin
|
599 |
798 |
6.6e-20 |
PFAM |
Pfam:DUF1986
|
607 |
707 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118755
|
SMART Domains |
Protein: ENSMUSP00000112659 Gene: ENSMUSG00000070371
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Tryp_SPc
|
47 |
287 |
3.75e-88 |
SMART |
Pfam:Trypsin
|
325 |
545 |
9.7e-18 |
PFAM |
Pfam:Trypsin
|
588 |
787 |
6.5e-20 |
PFAM |
Pfam:DUF1986
|
590 |
696 |
8e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
Gckr |
T |
A |
5: 31,465,111 (GRCm39) |
I360N |
possibly damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
Other mutations in Prss36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01473:Prss36
|
APN |
7 |
127,543,873 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03139:Prss36
|
APN |
7 |
127,532,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Prss36
|
UTSW |
7 |
127,533,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Prss36
|
UTSW |
7 |
127,535,027 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1771:Prss36
|
UTSW |
7 |
127,532,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Prss36
|
UTSW |
7 |
127,532,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:Prss36
|
UTSW |
7 |
127,533,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R4257:Prss36
|
UTSW |
7 |
127,532,010 (GRCm39) |
unclassified |
probably benign |
|
R4694:Prss36
|
UTSW |
7 |
127,534,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Prss36
|
UTSW |
7 |
127,535,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:Prss36
|
UTSW |
7 |
127,533,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R5524:Prss36
|
UTSW |
7 |
127,533,637 (GRCm39) |
nonsense |
probably null |
|
R5749:Prss36
|
UTSW |
7 |
127,532,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Prss36
|
UTSW |
7 |
127,532,744 (GRCm39) |
missense |
probably benign |
0.26 |
R5992:Prss36
|
UTSW |
7 |
127,544,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Prss36
|
UTSW |
7 |
127,533,739 (GRCm39) |
missense |
probably benign |
0.07 |
R6033:Prss36
|
UTSW |
7 |
127,533,739 (GRCm39) |
missense |
probably benign |
0.07 |
R6971:Prss36
|
UTSW |
7 |
127,544,410 (GRCm39) |
missense |
probably benign |
0.15 |
R7050:Prss36
|
UTSW |
7 |
127,543,937 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7232:Prss36
|
UTSW |
7 |
127,534,763 (GRCm39) |
missense |
probably benign |
0.07 |
R7271:Prss36
|
UTSW |
7 |
127,543,877 (GRCm39) |
missense |
probably benign |
0.10 |
R8679:Prss36
|
UTSW |
7 |
127,532,635 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9232:Prss36
|
UTSW |
7 |
127,543,988 (GRCm39) |
missense |
probably benign |
|
R9327:Prss36
|
UTSW |
7 |
127,532,570 (GRCm39) |
nonsense |
probably null |
|
R9356:Prss36
|
UTSW |
7 |
127,545,697 (GRCm39) |
start gained |
probably benign |
|
R9433:Prss36
|
UTSW |
7 |
127,533,339 (GRCm39) |
missense |
probably benign |
0.01 |
R9471:Prss36
|
UTSW |
7 |
127,545,605 (GRCm39) |
missense |
probably benign |
0.01 |
R9577:Prss36
|
UTSW |
7 |
127,533,673 (GRCm39) |
missense |
probably benign |
0.45 |
Z1088:Prss36
|
UTSW |
7 |
127,533,709 (GRCm39) |
nonsense |
probably null |
|
Z1177:Prss36
|
UTSW |
7 |
127,533,005 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2012-04-20 |