Incidental Mutation 'IGL03161:Prss3b'
ID |
411428 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prss3b
|
Ensembl Gene |
ENSMUSG00000029882 |
Gene Name |
serine protease 3B |
Synonyms |
2210010C04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL03161
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
41007202-41012443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41011240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 47
(H47Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031931]
|
AlphaFold |
Q9CPN9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031931
AA Change: H47Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000031931 Gene: ENSMUSG00000029882 AA Change: H47Q
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
240 |
3.52e-102 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
T |
C |
3: 79,536,493 (GRCm39) |
|
probably benign |
Het |
Abtb2 |
G |
T |
2: 103,397,799 (GRCm39) |
R243L |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,292,168 (GRCm39) |
E871G |
possibly damaging |
Het |
Ascc3 |
A |
T |
10: 50,494,168 (GRCm39) |
N201I |
probably damaging |
Het |
Aste1 |
A |
T |
9: 105,273,871 (GRCm39) |
H37L |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,106,429 (GRCm39) |
|
probably benign |
Het |
Cand2 |
C |
A |
6: 115,769,698 (GRCm39) |
T836K |
probably benign |
Het |
Dnah7c |
G |
A |
1: 46,506,456 (GRCm39) |
A178T |
probably benign |
Het |
Dnm2 |
A |
G |
9: 21,397,020 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
C |
9: 106,900,987 (GRCm39) |
D326G |
probably damaging |
Het |
Fignl1 |
A |
C |
11: 11,752,680 (GRCm39) |
M125R |
probably benign |
Het |
Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,100 (GRCm39) |
V1957A |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,755,710 (GRCm39) |
E172G |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,371,707 (GRCm39) |
D33G |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,376,255 (GRCm39) |
N1542D |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,557,977 (GRCm39) |
Y179H |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,570,766 (GRCm39) |
S609P |
possibly damaging |
Het |
Nacad |
G |
A |
11: 6,550,378 (GRCm39) |
Q938* |
probably null |
Het |
Odad3 |
A |
G |
9: 21,913,611 (GRCm39) |
S54P |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,676 (GRCm39) |
I38V |
possibly damaging |
Het |
Or4p22 |
G |
A |
2: 88,317,792 (GRCm39) |
A239T |
probably benign |
Het |
Pik3c3 |
C |
T |
18: 30,426,760 (GRCm39) |
T292I |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,591,241 (GRCm39) |
V1351A |
probably benign |
Het |
Spg7 |
T |
C |
8: 123,814,070 (GRCm39) |
M443T |
probably damaging |
Het |
Spmip9 |
T |
C |
6: 70,890,519 (GRCm39) |
E91G |
probably benign |
Het |
Tcof1 |
A |
G |
18: 60,966,560 (GRCm39) |
S344P |
possibly damaging |
Het |
Tm4sf5 |
T |
A |
11: 70,401,098 (GRCm39) |
S105T |
probably benign |
Het |
Tmem119 |
A |
G |
5: 113,932,961 (GRCm39) |
V280A |
possibly damaging |
Het |
Trbv20 |
A |
T |
6: 41,165,757 (GRCm39) |
I61L |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,738,853 (GRCm39) |
|
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,530,204 (GRCm39) |
M191L |
possibly damaging |
Het |
Vta1 |
A |
T |
10: 14,543,716 (GRCm39) |
H219Q |
possibly damaging |
Het |
|
Other mutations in Prss3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01120:Prss3b
|
APN |
6 |
41,008,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01625:Prss3b
|
APN |
6 |
41,009,882 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02159:Prss3b
|
APN |
6 |
41,009,891 (GRCm39) |
missense |
probably benign |
0.34 |
R0419:Prss3b
|
UTSW |
6 |
41,011,281 (GRCm39) |
missense |
probably benign |
0.05 |
R1715:Prss3b
|
UTSW |
6 |
41,009,870 (GRCm39) |
splice site |
probably null |
|
R2057:Prss3b
|
UTSW |
6 |
41,009,315 (GRCm39) |
missense |
probably benign |
0.06 |
R2059:Prss3b
|
UTSW |
6 |
41,009,315 (GRCm39) |
missense |
probably benign |
0.06 |
R2136:Prss3b
|
UTSW |
6 |
41,012,396 (GRCm39) |
missense |
probably benign |
0.28 |
R2446:Prss3b
|
UTSW |
6 |
41,008,582 (GRCm39) |
missense |
probably benign |
0.15 |
R4862:Prss3b
|
UTSW |
6 |
41,009,345 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5068:Prss3b
|
UTSW |
6 |
41,009,370 (GRCm39) |
missense |
probably benign |
0.35 |
R5369:Prss3b
|
UTSW |
6 |
41,009,940 (GRCm39) |
missense |
probably benign |
0.00 |
R6392:Prss3b
|
UTSW |
6 |
41,009,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7010:Prss3b
|
UTSW |
6 |
41,009,247 (GRCm39) |
missense |
probably benign |
0.42 |
R7567:Prss3b
|
UTSW |
6 |
41,010,127 (GRCm39) |
missense |
probably benign |
0.04 |
R7727:Prss3b
|
UTSW |
6 |
41,010,127 (GRCm39) |
missense |
probably benign |
0.04 |
R7962:Prss3b
|
UTSW |
6 |
41,012,387 (GRCm39) |
missense |
probably benign |
0.01 |
R8373:Prss3b
|
UTSW |
6 |
41,008,622 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8529:Prss3b
|
UTSW |
6 |
41,009,369 (GRCm39) |
missense |
probably benign |
0.00 |
R8883:Prss3b
|
UTSW |
6 |
41,009,305 (GRCm39) |
nonsense |
probably null |
|
R8916:Prss3b
|
UTSW |
6 |
41,010,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9066:Prss3b
|
UTSW |
6 |
41,008,640 (GRCm39) |
missense |
probably benign |
0.41 |
R9095:Prss3b
|
UTSW |
6 |
41,010,038 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9180:Prss3b
|
UTSW |
6 |
41,008,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R9389:Prss3b
|
UTSW |
6 |
41,010,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2016-08-02 |