Incidental Mutation 'R1134:Pgap4'
| ID |
94812 |
| 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 |
039207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
49584506-49597876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49586832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 112
(Q112R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042750]
[ENSMUST00000150664]
[ENSMUST00000151542]
|
| AlphaFold |
Q91YV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042750
AA Change: Q112R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: Q112R
| 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
AA Change: Q112R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
AA Change: Q112R
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl6 |
C |
A |
16: 23,787,115 (GRCm39) |
R595L |
probably benign |
Het |
| Cd40 |
T |
A |
2: 164,912,738 (GRCm39) |
C230S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,100,816 (GRCm39) |
F271L |
probably damaging |
Het |
| Endou |
A |
G |
15: 97,611,747 (GRCm39) |
V339A |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,366,535 (GRCm39) |
L370* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,731 (GRCm39) |
D97G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,015,460 (GRCm39) |
N92S |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 64,998,391 (GRCm39) |
S368P |
probably benign |
Het |
| Lhfpl2 |
C |
T |
13: 94,310,760 (GRCm39) |
S10L |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,557 (GRCm39) |
V645A |
probably benign |
Het |
| Ms4a4d |
C |
T |
19: 11,535,298 (GRCm39) |
L199F |
possibly damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,476 (GRCm39) |
S291G |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,525 (GRCm39) |
Y35C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,947,938 (GRCm39) |
E2313G |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,655,272 (GRCm39) |
V1733A |
probably damaging |
Het |
| Plcl2 |
G |
A |
17: 50,915,138 (GRCm39) |
V716I |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,061,426 (GRCm39) |
S816R |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,096,768 (GRCm39) |
S810L |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,223,639 (GRCm39) |
V276L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,525 (GRCm39) |
D274V |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,061,143 (GRCm39) |
L150P |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,951,972 (GRCm39) |
I909N |
possibly damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,708,975 (GRCm39) |
I80T |
probably damaging |
Het |
| Zcchc8 |
C |
G |
5: 123,855,090 (GRCm39) |
G40R |
probably 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 |
|
|
IGL03239:Pgap4
|
APN |
4 |
49,586,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0344:Pgap4
|
UTSW |
4 |
49,586,566 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCGATGACTCCAGGCAATAC -3'
(R):5'- GCATCTAAACCAGATGAGCCAGGAC -3'
Sequencing Primer
(F):5'- AGGGTCATCACCGTAATCGTC -3'
(R):5'- ATGAGCCAGGACTTCCTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation