Incidental Mutation 'R5721:Plekha8'
| ID |
451437 |
| 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 |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
54572096-54622824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54590091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 19
(W19R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101385]
[ENSMUST00000119706]
|
| AlphaFold |
Q80W71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101385
|
| SMART Domains |
Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
| 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 damaging
Transcript: ENSMUST00000119706
AA Change: W19R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: W19R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably 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 |
|
R6359:Plekha8
|
UTSW |
6 |
54,590,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6756:Plekha8
|
UTSW |
6 |
54,601,125 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACATGCCTCTAGAACTGTTTGTTTC -3'
(R):5'- ACAACTGTGTGTCCTGCAGG -3'
Sequencing Primer
(F):5'- ACAAACTAGGATCAAATGTACAAGTC -3'
(R):5'- GCATTCAGGGGCCAGTACTTTTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation