Incidental Mutation 'IGL03214:Plekha8'
| ID |
413404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekha8
|
| Ensembl Gene |
ENSMUSG00000005225 |
| Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 |
| Synonyms |
FAPP2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
54572096-54622824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54612755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 454
(A454E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101385]
[ENSMUST00000119706]
|
| AlphaFold |
Q80W71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101385
AA Change: A409E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: A409E
| 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: A454E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: A454E
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
C |
11: 7,117,054 (GRCm39) |
|
probably benign |
Het |
| Asb5 |
T |
C |
8: 55,038,098 (GRCm39) |
V207A |
probably benign |
Het |
| Atxn3 |
G |
T |
12: 101,912,181 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,839,100 (GRCm39) |
D857G |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,239,917 (GRCm39) |
N322S |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,029,163 (GRCm39) |
N255S |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,220 (GRCm39) |
W92R |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,561,368 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,086,896 (GRCm39) |
D581G |
probably benign |
Het |
| Fam135a |
G |
A |
1: 24,092,357 (GRCm39) |
L201F |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,329 (GRCm39) |
L667V |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,909,553 (GRCm39) |
M539K |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,742 (GRCm39) |
V2261A |
probably benign |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,751 (GRCm39) |
S310P |
unknown |
Het |
| Mme |
A |
T |
3: 63,237,111 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,488,519 (GRCm39) |
Y58H |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,244,411 (GRCm39) |
S983P |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,381,111 (GRCm39) |
|
probably benign |
Het |
| Neb |
C |
T |
2: 52,049,560 (GRCm39) |
G6428R |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,087,856 (GRCm39) |
T5448S |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,552 (GRCm39) |
I219L |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,284 (GRCm38) |
M58L |
probably damaging |
Het |
| Or52ab7 |
G |
T |
7: 102,977,873 (GRCm39) |
S60I |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,415 (GRCm39) |
Q54L |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,173 (GRCm39) |
M83T |
probably benign |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Phex |
A |
T |
X: 155,960,500 (GRCm39) |
N681K |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,240,506 (GRCm39) |
K152N |
probably benign |
Het |
| Satb2 |
C |
A |
1: 56,884,739 (GRCm39) |
S513I |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,879 (GRCm39) |
R520L |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,169,826 (GRCm39) |
H606R |
probably benign |
Het |
| Smc1b |
G |
A |
15: 84,982,147 (GRCm39) |
Q716* |
probably null |
Het |
| Syncrip |
C |
T |
9: 88,346,696 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,804,477 (GRCm39) |
A762V |
probably null |
Het |
| Wdr64 |
C |
A |
1: 175,571,201 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation