Incidental Mutation 'IGL02044:Pate7'
| ID |
184887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pate7
|
| Ensembl Gene |
ENSMUSG00000090738 |
| Gene Name |
prostate and testis expressed 7 |
| Synonyms |
Gm17727 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL02044
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35687820-35689405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35687959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 94
(K94E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171898]
[ENSMUST00000184431]
|
| AlphaFold |
E9Q4V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171898
AA Change: K94E
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129553
Gene: ENSMUSG00000090738
AA Change: K94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184431
|
| SMART Domains |
Protein: ENSMUSP00000139380
Gene: ENSMUSG00000098847
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
81 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
C |
7: 139,562,735 (GRCm39) |
D772G |
possibly damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,954 (GRCm39) |
N267K |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,507,168 (GRCm39) |
V391D |
probably damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,658,241 (GRCm39) |
R1671* |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,768,790 (GRCm39) |
S443T |
possibly damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,965 (GRCm39) |
T314S |
probably benign |
Het |
| Ifi206 |
C |
T |
1: 173,308,557 (GRCm39) |
V480M |
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,931 (GRCm39) |
Y368H |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,485 (GRCm39) |
S2566P |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,887,431 (GRCm39) |
F3087I |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,751,242 (GRCm39) |
L703H |
probably damaging |
Het |
| Or8c9 |
A |
G |
9: 38,241,461 (GRCm39) |
S193G |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,270 (GRCm39) |
S53L |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,651 (GRCm39) |
D203G |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,197 (GRCm39) |
|
probably null |
Het |
| Pdia6 |
C |
A |
12: 17,333,227 (GRCm39) |
T400K |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,303,724 (GRCm39) |
V354D |
possibly damaging |
Het |
| Sec13 |
A |
G |
6: 113,713,381 (GRCm39) |
I39T |
probably damaging |
Het |
| Smyd3 |
C |
T |
1: 178,799,844 (GRCm39) |
S365N |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,597 (GRCm39) |
|
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,098,204 (GRCm39) |
Y486S |
probably damaging |
Het |
| Tlr13 |
T |
C |
X: 105,200,703 (GRCm39) |
F147L |
probably damaging |
Het |
| Ulk2 |
T |
A |
11: 61,672,465 (GRCm39) |
N958Y |
probably damaging |
Het |
| Unk |
T |
A |
11: 115,940,154 (GRCm39) |
M169K |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,122,031 (GRCm39) |
Y625C |
possibly damaging |
Het |
|
| Other mutations in Pate7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Pate7
|
APN |
9 |
35,688,044 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02352:Pate7
|
APN |
9 |
35,689,180 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
IGL02359:Pate7
|
APN |
9 |
35,689,180 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R0827:Pate7
|
UTSW |
9 |
35,689,147 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1382:Pate7
|
UTSW |
9 |
35,689,390 (GRCm39) |
start gained |
probably benign |
|
|
R1591:Pate7
|
UTSW |
9 |
35,687,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Pate7
|
UTSW |
9 |
35,688,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5419:Pate7
|
UTSW |
9 |
35,689,407 (GRCm39) |
splice site |
probably null |
|
|
R6110:Pate7
|
UTSW |
9 |
35,688,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6379:Pate7
|
UTSW |
9 |
35,689,381 (GRCm39) |
start gained |
probably benign |
|
|
R6614:Pate7
|
UTSW |
9 |
35,688,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7698:Pate7
|
UTSW |
9 |
35,688,472 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7833:Pate7
|
UTSW |
9 |
35,688,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Pate7
|
UTSW |
9 |
35,689,329 (GRCm39) |
makesense |
probably null |
|
|
R8881:Pate7
|
UTSW |
9 |
35,689,384 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8978:Pate7
|
UTSW |
9 |
35,688,069 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation