Incidental Mutation 'R3609:Pgap6'
| ID |
269194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap6
|
| Ensembl Gene |
ENSMUSG00000024180 |
| Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
| Synonyms |
Rxylt1, Tmem8, M83 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3609 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26337860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 415
(V415I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000025014]
[ENSMUST00000128597]
|
| AlphaFold |
Q9ESN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025010
AA Change: V415I
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: V415I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
EGF
|
495 |
531 |
1.99e1 |
SMART |
|
Pfam:DUF3522
|
541 |
725 |
1e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025014
|
| SMART Domains |
Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L28
|
77 |
138 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128597
|
| SMART Domains |
Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
3 |
39 |
1.99e1 |
SMART |
|
Pfam:DUF3522
|
47 |
143 |
2e-36 |
PFAM |
|
Pfam:DUF3522
|
134 |
194 |
2.6e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifc |
A |
T |
10: 85,836,502 (GRCm39) |
M1K |
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Ces1c |
A |
T |
8: 93,846,960 (GRCm39) |
I98N |
probably damaging |
Het |
| Clec4b1 |
T |
A |
6: 123,027,591 (GRCm39) |
L16Q |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,220 (GRCm39) |
Y106C |
probably damaging |
Het |
| Irak3 |
G |
T |
10: 119,981,582 (GRCm39) |
T441K |
possibly damaging |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,503,384 (GRCm39) |
T48I |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,420 (GRCm39) |
S290P |
probably damaging |
Het |
| Or5al1 |
G |
A |
2: 85,989,976 (GRCm39) |
T246I |
probably benign |
Het |
| Or5p57 |
A |
G |
7: 107,665,576 (GRCm39) |
F143S |
probably damaging |
Het |
| Or8k23 |
G |
C |
2: 86,185,826 (GRCm39) |
A300G |
probably damaging |
Het |
| Rest |
A |
C |
5: 77,430,647 (GRCm39) |
N1022T |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,870 (GRCm39) |
C358S |
probably damaging |
Het |
|
| Other mutations in Pgap6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Pgap6
|
APN |
17 |
26,336,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01014:Pgap6
|
APN |
17 |
26,335,983 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02167:Pgap6
|
APN |
17 |
26,338,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Pgap6
|
APN |
17 |
26,338,473 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02892:Pgap6
|
APN |
17 |
26,338,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Pgap6
|
APN |
17 |
26,336,923 (GRCm39) |
missense |
probably benign |
|
|
IGL03005:Pgap6
|
APN |
17 |
26,337,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03124:Pgap6
|
APN |
17 |
26,335,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03046:Pgap6
|
UTSW |
17 |
26,338,414 (GRCm39) |
splice site |
probably null |
|
|
R0551:Pgap6
|
UTSW |
17 |
26,339,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Pgap6
|
UTSW |
17 |
26,336,088 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1502:Pgap6
|
UTSW |
17 |
26,339,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1593:Pgap6
|
UTSW |
17 |
26,337,381 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1688:Pgap6
|
UTSW |
17 |
26,337,882 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1829:Pgap6
|
UTSW |
17 |
26,341,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Pgap6
|
UTSW |
17 |
26,341,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Pgap6
|
UTSW |
17 |
26,336,858 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3610:Pgap6
|
UTSW |
17 |
26,337,860 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4564:Pgap6
|
UTSW |
17 |
26,336,837 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4749:Pgap6
|
UTSW |
17 |
26,335,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Pgap6
|
UTSW |
17 |
26,340,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Pgap6
|
UTSW |
17 |
26,339,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Pgap6
|
UTSW |
17 |
26,337,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5126:Pgap6
|
UTSW |
17 |
26,340,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5640:Pgap6
|
UTSW |
17 |
26,337,846 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5722:Pgap6
|
UTSW |
17 |
26,339,536 (GRCm39) |
frame shift |
probably null |
|
|
R5723:Pgap6
|
UTSW |
17 |
26,339,536 (GRCm39) |
frame shift |
probably null |
|
|
R5739:Pgap6
|
UTSW |
17 |
26,339,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Pgap6
|
UTSW |
17 |
26,340,972 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6587:Pgap6
|
UTSW |
17 |
26,340,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6723:Pgap6
|
UTSW |
17 |
26,339,610 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7588:Pgap6
|
UTSW |
17 |
26,341,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Pgap6
|
UTSW |
17 |
26,336,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7653:Pgap6
|
UTSW |
17 |
26,339,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Pgap6
|
UTSW |
17 |
26,341,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Pgap6
|
UTSW |
17 |
26,336,509 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8493:Pgap6
|
UTSW |
17 |
26,340,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Pgap6
|
UTSW |
17 |
26,339,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9048:Pgap6
|
UTSW |
17 |
26,340,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Pgap6
|
UTSW |
17 |
26,337,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACTTTGGGCTAGCAGG -3'
(R):5'- TACCAGTTGTCTGTCTCCGG -3'
Sequencing Primer
(F):5'- CTAGCAGGCGGCCTCCC -3'
(R):5'- CCATGTGAGATGAGGCTCTCAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation