Incidental Mutation 'R1392:Pgap4'
| ID |
500321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap4
|
| Ensembl Gene |
ENSMUSG00000039611 |
| Gene Name |
post-GPI attachment to proteins GalNAc transferase 4 |
| Synonyms |
2810432L12Rik, Tmem246, 9330170P15Rik |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
49584506-49597876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49586919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 83
(L83P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042750]
[ENSMUST00000150664]
[ENSMUST00000151542]
|
| AlphaFold |
Q91YV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042750
AA Change: L83P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: L83P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
262 |
280 |
N/A |
INTRINSIC |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150664
AA Change: L83P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
AA Change: L83P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151542
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.6%
- 10x: 94.0%
- 20x: 82.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Hunk |
T |
C |
16: 90,269,352 (GRCm39) |
S299P |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rsad2 |
A |
G |
12: 26,495,439 (GRCm39) |
V352A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,856 (GRCm39) |
L136P |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Tmt1b |
T |
C |
10: 128,796,567 (GRCm39) |
T81A |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Pgap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Pgap4
|
APN |
4 |
49,586,860 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02210:Pgap4
|
APN |
4 |
49,586,686 (GRCm39) |
missense |
probably benign |
|
|
IGL03239:Pgap4
|
APN |
4 |
49,586,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0344:Pgap4
|
UTSW |
4 |
49,586,566 (GRCm39) |
missense |
probably benign |
|
|
R1134:Pgap4
|
UTSW |
4 |
49,586,832 (GRCm39) |
missense |
probably benign |
|
|
R1392:Pgap4
|
UTSW |
4 |
49,586,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Pgap4
|
UTSW |
4 |
49,586,209 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2288:Pgap4
|
UTSW |
4 |
49,586,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Pgap4
|
UTSW |
4 |
49,586,254 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5530:Pgap4
|
UTSW |
4 |
49,586,226 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5939:Pgap4
|
UTSW |
4 |
49,586,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5955:Pgap4
|
UTSW |
4 |
49,586,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Pgap4
|
UTSW |
4 |
49,586,325 (GRCm39) |
missense |
probably benign |
|
|
R7837:Pgap4
|
UTSW |
4 |
49,586,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8792:Pgap4
|
UTSW |
4 |
49,587,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9120:Pgap4
|
UTSW |
4 |
49,587,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9409:Pgap4
|
UTSW |
4 |
49,586,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Pgap4
|
UTSW |
4 |
49,586,890 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Pgap4
|
UTSW |
4 |
49,587,135 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Pgap4
|
UTSW |
4 |
49,586,872 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
|
| Posted On |
2017-12-01 |
Incidental Mutation