Incidental Mutation 'R6756:Plekha8'
| ID |
531057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha8
|
| Ensembl Gene |
ENSMUSG00000005225 |
| Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 |
| Synonyms |
FAPP2 |
| MMRRC Submission |
044872-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
54572096-54622824 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 54601125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 288
(Q288*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101385]
[ENSMUST00000119706]
|
| AlphaFold |
Q80W71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101385
AA Change: Q243*
|
| SMART Domains |
Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: Q243*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
50 |
1e-27 |
BLAST |
|
PDB:2KCJ|A
|
1 |
55 |
3e-24 |
PDB |
|
SCOP:d1ki1b2
|
1 |
57 |
2e-4 |
SMART |
|
Blast:PH
|
59 |
128 |
2e-35 |
BLAST |
|
Pfam:GLTP
|
283 |
429 |
3.5e-45 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119706
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: Q288*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
95 |
1.3e-12 |
SMART |
|
Blast:PH
|
106 |
173 |
2e-30 |
BLAST |
|
Pfam:GLTP
|
330 |
471 |
5.6e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
| Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
| Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
| Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
| Meiob |
A |
T |
17: 25,058,506 (GRCm39) |
T470S |
possibly damaging |
Het |
| Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
| Ppp1r36 |
G |
A |
12: 76,474,696 (GRCm39) |
A64T |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Recql4 |
T |
C |
15: 76,589,059 (GRCm39) |
D943G |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,425,836 (GRCm39) |
D433G |
probably damaging |
Het |
| Upb1 |
A |
G |
10: 75,264,135 (GRCm39) |
T194A |
possibly damaging |
Het |
|
| Other mutations in Plekha8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Plekha8
|
APN |
6 |
54,606,822 (GRCm39) |
nonsense |
probably null |
|
|
IGL01413:Plekha8
|
APN |
6 |
54,599,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02148:Plekha8
|
APN |
6 |
54,592,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Plekha8
|
APN |
6 |
54,592,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Plekha8
|
APN |
6 |
54,606,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Plekha8
|
APN |
6 |
54,612,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Plekha8
|
UTSW |
6 |
54,593,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0519:Plekha8
|
UTSW |
6 |
54,599,092 (GRCm39) |
splice site |
probably benign |
|
|
R0606:Plekha8
|
UTSW |
6 |
54,606,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Plekha8
|
UTSW |
6 |
54,617,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Plekha8
|
UTSW |
6 |
54,599,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3508:Plekha8
|
UTSW |
6 |
54,590,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Plekha8
|
UTSW |
6 |
54,596,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4360:Plekha8
|
UTSW |
6 |
54,599,171 (GRCm39) |
missense |
probably benign |
|
|
R4757:Plekha8
|
UTSW |
6 |
54,599,213 (GRCm39) |
missense |
probably benign |
|
|
R4822:Plekha8
|
UTSW |
6 |
54,601,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:Plekha8
|
UTSW |
6 |
54,590,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6359:Plekha8
|
UTSW |
6 |
54,590,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6857:Plekha8
|
UTSW |
6 |
54,606,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Plekha8
|
UTSW |
6 |
54,601,206 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7420:Plekha8
|
UTSW |
6 |
54,590,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Plekha8
|
UTSW |
6 |
54,592,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Plekha8
|
UTSW |
6 |
54,607,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8448:Plekha8
|
UTSW |
6 |
54,607,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Plekha8
|
UTSW |
6 |
54,599,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Plekha8
|
UTSW |
6 |
54,592,540 (GRCm39) |
intron |
probably benign |
|
|
R8976:Plekha8
|
UTSW |
6 |
54,607,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9386:Plekha8
|
UTSW |
6 |
54,605,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACGAGCTCTTTAGGGGTG -3'
(R):5'- CCCCTCCACCTGGTAAATATG -3'
Sequencing Primer
(F):5'- GTGGGTGTGAACAGCTCATCC -3'
(R):5'- CCACCTGGTAAATATGAAGTACTGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation