Incidental Mutation 'IGL03239:Pgap4'
| ID |
414212 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pgap4
|
| Ensembl Gene |
ENSMUSG00000039611 |
| Gene Name |
post-GPI attachment to proteins GalNAc transferase 4 |
| Synonyms |
2810432L12Rik, Tmem246, 9330170P15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL03239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49584506-49597876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49586034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 378
(Y378C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042750]
[ENSMUST00000150664]
[ENSMUST00000151542]
|
| AlphaFold |
Q91YV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042750
AA Change: Y378C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: Y378C
| 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 benign
Transcript: ENSMUST00000150664
|
| SMART Domains |
Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,835 (GRCm39) |
Y309C |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,214,932 (GRCm39) |
V44L |
probably damaging |
Het |
| Catsperg2 |
T |
G |
7: 29,397,141 (GRCm39) |
S1121R |
probably benign |
Het |
| Ccdc190 |
G |
T |
1: 169,761,549 (GRCm39) |
R217L |
probably benign |
Het |
| Chd8 |
G |
A |
14: 52,465,005 (GRCm39) |
P619S |
possibly damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,655,796 (GRCm39) |
W498R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,557,254 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,589 (GRCm39) |
D1471G |
unknown |
Het |
| Htr2b |
A |
G |
1: 86,027,414 (GRCm39) |
F364S |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,886 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,390,233 (GRCm39) |
T1731A |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,101 (GRCm39) |
E179G |
possibly damaging |
Het |
| Olfm3 |
A |
G |
3: 114,916,243 (GRCm39) |
R392G |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,667 (GRCm39) |
D266E |
probably benign |
Het |
| Pcdhb13 |
C |
A |
18: 37,575,888 (GRCm39) |
L89M |
probably damaging |
Het |
| Prdm5 |
T |
G |
6: 65,863,062 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,982,091 (GRCm39) |
D381G |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,130,138 (GRCm39) |
N434D |
probably benign |
Het |
| Usp17la |
C |
T |
7: 104,509,827 (GRCm39) |
T144I |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,970,799 (GRCm39) |
T336A |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation