Incidental Mutation 'IGL03284:Pate12'
| ID |
415655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pate12
|
| Ensembl Gene |
ENSMUSG00000023093 |
| Gene Name |
prostate and testis expressed 12 |
| Synonyms |
Gm7257 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
36343180-36346234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36344759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 96
(C96S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041537]
|
| AlphaFold |
D3YX25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041537
AA Change: C96S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048154
Gene: ENSMUSG00000023093
AA Change: C96S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,354 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3b |
T |
C |
10: 112,764,431 (GRCm39) |
D66G |
probably benign |
Het |
| Dmac2 |
T |
C |
7: 25,321,851 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
A |
G |
4: 136,388,827 (GRCm39) |
M590T |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,456,747 (GRCm39) |
R474H |
probably damaging |
Het |
| Fcgbp |
G |
T |
7: 27,784,857 (GRCm39) |
A306S |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,673,786 (GRCm39) |
I238V |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,901 (GRCm39) |
D156G |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,887,905 (GRCm39) |
V1168A |
probably damaging |
Het |
| Oog2 |
A |
G |
4: 143,923,177 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,914 (GRCm39) |
|
probably benign |
Het |
| Psmd6 |
A |
T |
14: 14,112,546 (GRCm38) |
N351K |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,036,577 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
C |
T |
2: 157,035,989 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
G |
A |
9: 110,004,142 (GRCm39) |
V399I |
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,897,045 (GRCm39) |
V99F |
probably damaging |
Het |
| Styxl1 |
A |
G |
5: 135,785,949 (GRCm39) |
V32A |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,953,022 (GRCm39) |
V673I |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,173 (GRCm39) |
D390E |
probably benign |
Het |
|
| Other mutations in Pate12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Pate12
|
APN |
9 |
36,344,198 (GRCm39) |
splice site |
probably benign |
|
|
IGL01799:Pate12
|
APN |
9 |
36,344,179 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03018:Pate12
|
APN |
9 |
36,344,723 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03178:Pate12
|
APN |
9 |
36,344,132 (GRCm39) |
missense |
probably benign |
|
|
R1157:Pate12
|
UTSW |
9 |
36,344,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2032:Pate12
|
UTSW |
9 |
36,344,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4879:Pate12
|
UTSW |
9 |
36,344,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Pate12
|
UTSW |
9 |
36,344,156 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5019:Pate12
|
UTSW |
9 |
36,343,198 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation