Incidental Mutation 'R2288:Pgap4'
| ID |
244174 |
| 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 |
040287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R2288 (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 T
at 49586445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 241
(L241Q)
|
| 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: L241Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: L241Q
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
T |
C |
17: 42,978,402 (GRCm39) |
T314A |
probably benign |
Het |
| Ces2a |
T |
C |
8: 105,464,069 (GRCm39) |
S234P |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,026,639 (GRCm39) |
N571K |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,506,608 (GRCm39) |
I940V |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,563 (GRCm39) |
L1392S |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,322,636 (GRCm39) |
L111F |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,853,956 (GRCm38) |
E381* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5m3b |
T |
A |
2: 85,872,377 (GRCm39) |
C239* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,712,114 (GRCm39) |
E1036G |
probably damaging |
Het |
| Psma3 |
T |
G |
12: 71,041,145 (GRCm39) |
D173E |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,597,695 (GRCm39) |
L1135P |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,976 (GRCm39) |
I234V |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,735,886 (GRCm39) |
V1855A |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,594,157 (GRCm39) |
C419S |
probably damaging |
Het |
| Tlr3 |
T |
A |
8: 45,850,705 (GRCm39) |
I207F |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,739,963 (GRCm39) |
R992S |
probably damaging |
Het |
| V1ra8 |
T |
C |
6: 90,180,024 (GRCm39) |
S76P |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,740,354 (GRCm39) |
D219G |
probably benign |
Het |
| Zfp536 |
T |
A |
7: 37,179,773 (GRCm39) |
D944V |
probably damaging |
Het |
| Zfp683 |
CGGG |
CCGGGGG |
4: 133,783,381 (GRCm39) |
|
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 |
|
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 |
|
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'- AAATAGTGTCGGCCCACCAG -3'
(R):5'- GTGATGACCCTTCCACTAACTC -3'
Sequencing Primer
(F):5'- GCCCCATGCTGTAGAGAC -3'
(R):5'- CCTTCCACTAACTCATTTGAGAAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation