Incidental Mutation 'R7621:Pgap6'
| ID |
589168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap6
|
| Ensembl Gene |
ENSMUSG00000024180 |
| Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
| Synonyms |
Rxylt1, Tmem8, M83 |
| MMRRC Submission |
045688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7621 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26336865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 261
(P261Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000128597]
|
| AlphaFold |
Q9ESN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025010
AA Change: P261Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: P261Q
| 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: 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,051,359 (GRCm39) |
K112N |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,866,087 (GRCm39) |
S232P |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,629 (GRCm39) |
M108L |
possibly damaging |
Het |
| Ces1g |
A |
T |
8: 94,055,094 (GRCm39) |
V201D |
probably damaging |
Het |
| Cltc |
C |
A |
11: 86,598,312 (GRCm39) |
V1017L |
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,516 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csrnp1 |
C |
A |
9: 119,806,158 (GRCm39) |
A39S |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,808,322 (GRCm39) |
D258G |
possibly damaging |
Het |
| Entrep1 |
A |
C |
19: 23,972,168 (GRCm39) |
S179A |
possibly damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,896,300 (GRCm39) |
D29V |
probably benign |
Het |
| Gm4340 |
T |
C |
10: 104,031,820 (GRCm39) |
V188A |
probably benign |
Het |
| Gsdma2 |
T |
C |
11: 98,540,375 (GRCm39) |
M98T |
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,903,476 (GRCm39) |
D315E |
probably benign |
Het |
| Hsph1 |
A |
C |
5: 149,555,540 (GRCm39) |
Y89D |
probably damaging |
Het |
| Ighv11-2 |
T |
A |
12: 114,012,008 (GRCm39) |
D69V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,995,528 (GRCm39) |
G438D |
possibly damaging |
Het |
| Krt6a |
G |
T |
15: 101,600,187 (GRCm39) |
T355K |
possibly damaging |
Het |
| Lce1m |
T |
C |
3: 92,925,177 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
A |
T |
1: 24,767,625 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,442,841 (GRCm39) |
E508G |
probably damaging |
Het |
| Lrrc2 |
G |
A |
9: 110,809,899 (GRCm39) |
V312I |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,789,834 (GRCm39) |
K477* |
probably null |
Het |
| Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,176,280 (GRCm39) |
C105Y |
probably benign |
Het |
| Or4f14d |
T |
C |
2: 111,960,926 (GRCm39) |
T77A |
probably benign |
Het |
| Or55b3 |
G |
A |
7: 102,126,472 (GRCm39) |
R202C |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,120,447 (GRCm39) |
F31L |
probably benign |
Het |
| Pkm |
T |
A |
9: 59,585,441 (GRCm39) |
C474* |
probably null |
Het |
| Prr36 |
T |
A |
8: 4,263,150 (GRCm39) |
I839F |
unknown |
Het |
| Qtrt2 |
A |
G |
16: 43,689,303 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
A |
T |
16: 97,547,125 (GRCm39) |
V379E |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,133,042 (GRCm39) |
P304Q |
|
Het |
| Saxo2 |
A |
T |
7: 82,297,625 (GRCm39) |
C5S |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,742 (GRCm39) |
G711D |
probably damaging |
Het |
| Sema5a |
C |
A |
15: 32,609,378 (GRCm39) |
T428N |
possibly damaging |
Het |
| Setd5 |
C |
A |
6: 113,121,010 (GRCm39) |
P1073Q |
possibly damaging |
Het |
| Sh2d5 |
T |
G |
4: 137,984,150 (GRCm39) |
C173G |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,080,823 (GRCm39) |
V350G |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,106,743 (GRCm39) |
C15R |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,295 (GRCm39) |
F940Y |
possibly damaging |
Het |
| Spata17 |
T |
A |
1: 186,854,833 (GRCm39) |
|
probably null |
Het |
| Specc1 |
A |
G |
11: 62,019,210 (GRCm39) |
N603S |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,421,673 (GRCm39) |
D355G |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,894,426 (GRCm39) |
D807G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,754,934 (GRCm39) |
T174A |
probably benign |
Het |
| Vmn2r52 |
A |
G |
7: 9,907,274 (GRCm39) |
Y151H |
probably benign |
Het |
| Wdr12 |
G |
A |
1: 60,136,748 (GRCm39) |
|
probably benign |
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 |
|
R3609:Pgap6
|
UTSW |
17 |
26,337,860 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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'- AGCAAGTCTGAGTCACCACC -3'
(R):5'- ACACTCCATGGCCTACATACTG -3'
Sequencing Primer
(F):5'- AAGTCTGAGTCACCACCTTGCC -3'
(R):5'- TCCATGGCCTACATACTGTCAAAAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation