Incidental Mutation 'R1308:Pate6'
ID |
157856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pate6
|
Ensembl Gene |
ENSMUSG00000032108 |
Gene Name |
prostate and testis expressed 6 |
Synonyms |
mANLP2, Pate-A, 9230110F15Rik, Pate-C, D730048I06Rik, Anlp3 |
MMRRC Submission |
039374-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R1308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
35699346-35701408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35700385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034619]
[ENSMUST00000184431]
|
AlphaFold |
Q9CQB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034619
AA Change: T67A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000034619 Gene: ENSMUSG00000032108 AA Change: T67A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
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 |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
Other mutations in Pate6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1113:Pate6
|
UTSW |
9 |
35,700,385 (GRCm39) |
missense |
probably benign |
0.03 |
R1971:Pate6
|
UTSW |
9 |
35,700,309 (GRCm39) |
missense |
probably benign |
0.00 |
R2132:Pate6
|
UTSW |
9 |
35,701,039 (GRCm39) |
splice site |
probably benign |
|
R4700:Pate6
|
UTSW |
9 |
35,701,021 (GRCm39) |
missense |
probably damaging |
0.98 |
R5809:Pate6
|
UTSW |
9 |
35,700,297 (GRCm39) |
missense |
probably damaging |
0.99 |
R6662:Pate6
|
UTSW |
9 |
35,701,296 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCCCAGGTTCTATGACTTGCAC -3'
(R):5'- CCTTCAGGATTCCAAGCACCATCTC -3'
Sequencing Primer
(F):5'- AAGTCAATGAAAGAAAATGGAGAATG -3'
(R):5'- TCATGGCTAAGTGCCTGC -3'
|
Posted On |
2014-02-18 |