Incidental Mutation 'IGL01296:Prss23'
ID |
73136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss23
|
Ensembl Gene |
ENSMUSG00000039405 |
Gene Name |
serine protease 23 |
Synonyms |
2310046G15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL01296
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
89156991-89176395 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89159095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 325
(K325E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041761]
[ENSMUST00000207538]
[ENSMUST00000207636]
[ENSMUST00000207932]
[ENSMUST00000208402]
[ENSMUST00000208903]
[ENSMUST00000208888]
|
AlphaFold |
Q9D6X6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000032858
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041761
AA Change: K325E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045191 Gene: ENSMUSG00000039405 AA Change: K325E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
low complexity region
|
48 |
57 |
N/A |
INTRINSIC |
Tryp_SPc
|
137 |
372 |
2.87e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179361
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207538
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207636
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207932
AA Change: K325E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209118
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208888
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Crtac1 |
A |
T |
19: 42,272,652 (GRCm39) |
C578S |
probably damaging |
Het |
Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
Fam20a |
A |
G |
11: 109,576,177 (GRCm39) |
I194T |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
Pgm3 |
A |
G |
9: 86,443,932 (GRCm39) |
V324A |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,816,137 (GRCm39) |
I632V |
probably benign |
Het |
Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
possibly damaging |
Het |
|
Other mutations in Prss23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03308:Prss23
|
APN |
7 |
89,158,938 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03349:Prss23
|
APN |
7 |
89,159,065 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03378:Prss23
|
APN |
7 |
89,159,352 (GRCm39) |
missense |
probably damaging |
0.99 |
R0394:Prss23
|
UTSW |
7 |
89,159,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R1026:Prss23
|
UTSW |
7 |
89,159,166 (GRCm39) |
missense |
probably benign |
0.01 |
R1417:Prss23
|
UTSW |
7 |
89,159,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Prss23
|
UTSW |
7 |
89,159,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Prss23
|
UTSW |
7 |
89,159,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Prss23
|
UTSW |
7 |
89,159,922 (GRCm39) |
missense |
probably benign |
0.18 |
R1806:Prss23
|
UTSW |
7 |
89,159,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Prss23
|
UTSW |
7 |
89,159,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R3420:Prss23
|
UTSW |
7 |
89,159,107 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3849:Prss23
|
UTSW |
7 |
89,158,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R4567:Prss23
|
UTSW |
7 |
89,160,074 (GRCm39) |
utr 5 prime |
probably benign |
|
R4828:Prss23
|
UTSW |
7 |
89,159,108 (GRCm39) |
nonsense |
probably null |
|
R5010:Prss23
|
UTSW |
7 |
89,159,422 (GRCm39) |
missense |
probably benign |
0.25 |
R5251:Prss23
|
UTSW |
7 |
89,159,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Prss23
|
UTSW |
7 |
89,159,174 (GRCm39) |
missense |
probably benign |
0.02 |
R5629:Prss23
|
UTSW |
7 |
89,159,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R5697:Prss23
|
UTSW |
7 |
89,159,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R6378:Prss23
|
UTSW |
7 |
89,159,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R6716:Prss23
|
UTSW |
7 |
89,159,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Prss23
|
UTSW |
7 |
89,160,033 (GRCm39) |
missense |
probably benign |
0.03 |
R7097:Prss23
|
UTSW |
7 |
89,159,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7362:Prss23
|
UTSW |
7 |
89,158,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R7563:Prss23
|
UTSW |
7 |
89,159,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R7637:Prss23
|
UTSW |
7 |
89,159,454 (GRCm39) |
missense |
probably benign |
0.00 |
R7815:Prss23
|
UTSW |
7 |
89,159,253 (GRCm39) |
missense |
probably damaging |
0.99 |
R8047:Prss23
|
UTSW |
7 |
89,159,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R8548:Prss23
|
UTSW |
7 |
89,159,416 (GRCm39) |
missense |
probably benign |
0.21 |
R8869:Prss23
|
UTSW |
7 |
89,159,887 (GRCm39) |
missense |
probably benign |
0.00 |
R8914:Prss23
|
UTSW |
7 |
89,159,854 (GRCm39) |
missense |
probably benign |
|
R9310:Prss23
|
UTSW |
7 |
89,159,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Prss23
|
UTSW |
7 |
89,159,931 (GRCm39) |
missense |
probably benign |
|
R9762:Prss23
|
UTSW |
7 |
89,159,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |