Incidental Mutation 'R5723:Pgap6'
ID |
452352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgap6
|
Ensembl Gene |
ENSMUSG00000024180 |
Gene Name |
post-glycosylphosphatidylinositol attachment to proteins 6 |
Synonyms |
Rxylt1, Tmem8, M83 |
MMRRC Submission |
043341-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5723 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26332290-26342228 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CGGGG to CGGGGG
at 26339536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025010]
[ENSMUST00000025014]
[ENSMUST00000128597]
|
AlphaFold |
Q9ESN3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025010
|
SMART Domains |
Protein: ENSMUSP00000025010 Gene: ENSMUSG00000024180
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 null
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
Abcg2 |
C |
T |
6: 58,655,336 (GRCm39) |
Q109* |
probably null |
Het |
Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
C9 |
T |
A |
15: 6,516,297 (GRCm39) |
Y367N |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
Gramd1a |
A |
T |
7: 30,833,908 (GRCm39) |
W506R |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
Krt16 |
A |
G |
11: 100,139,272 (GRCm39) |
Y149H |
probably damaging |
Het |
Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,434,769 (GRCm39) |
S666G |
probably null |
Het |
Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,763 (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 |
|
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'- TTCTGCTCACGCTCAGCAAC -3'
(R):5'- TGCCACGTCATGTACTGTATGTG -3'
Sequencing Primer
(F):5'- AGCAACCTCATGTTCCTGG -3'
(R):5'- CATGTACTGTATGTGAGGGCCCC -3'
|
Posted On |
2017-01-03 |