Incidental Mutation 'R9048:Pgap6'
| ID |
688209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgap6
|
| Ensembl Gene |
ENSMUSG00000024180 |
| Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
| Synonyms |
Rxylt1, Tmem8, M83 |
| MMRRC Submission |
068874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R9048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26340515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 633
(V633A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000025014]
[ENSMUST00000128597]
|
| AlphaFold |
Q9ESN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025010
AA Change: V633A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: V633A
| 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: ENSMUST00000127647
|
| SMART Domains |
Protein: ENSMUSP00000115369
Gene: ENSMUSG00000024181
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4CE4|1
|
2 |
44 |
5e-19 |
PDB |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1099 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
| Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,989,695 (GRCm39) |
D407G |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
| Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
| Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
| Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
| Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
| Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
| Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
| Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
| Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
| Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
| Podn |
G |
C |
4: 107,878,596 (GRCm39) |
R424G |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
| Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,427,530 (GRCm39) |
N250D |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,032,620 (GRCm39) |
D1188G |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
| Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
| Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
| Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
R9574:Pgap6
|
UTSW |
17 |
26,337,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTCTTAAGAGGAGCCG -3'
(R):5'- AGCTGCTACCGACTCTAAAC -3'
Sequencing Primer
(F):5'- TCTTAAGAGGAGCCGACAGAG -3'
(R):5'- TGCTACCGACTCTAAACAGATGTGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation