Incidental Mutation 'IGL02898:Plekho1'
| ID |
363471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekho1
|
| Ensembl Gene |
ENSMUSG00000015745 |
| Gene Name |
pleckstrin homology domain containing, family O member 1 |
| Synonyms |
JZA-20, Jza2, CKIP-1, 2810052M02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL02898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95896110-95903258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95899493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 100
(H100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015889]
[ENSMUST00000123006]
[ENSMUST00000130043]
[ENSMUST00000143485]
|
| AlphaFold |
Q9JIY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015889
AA Change: H91L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: H91L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
133 |
2.68e-14 |
SMART |
|
PDB:3AA1|C
|
147 |
169 |
2e-8 |
PDB |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123006
AA Change: H82L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: H82L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
12 |
124 |
2.68e-14 |
SMART |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130043
AA Change: H100L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: H100L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
PH
|
30 |
142 |
2.68e-14 |
SMART |
|
PDB:3AA1|C
|
156 |
178 |
2e-8 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143485
AA Change: H83L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
AA Change: H83L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
13 |
124 |
1.08e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157043
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
| Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
| Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
| Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
| Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
| Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
| Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
| Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
| Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
| Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
| Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
| Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
| Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
| Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
| Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
| V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably damaging |
Het |
|
| Other mutations in Plekho1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Plekho1
|
APN |
3 |
95,898,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02198:Plekho1
|
APN |
3 |
95,899,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02395:Plekho1
|
APN |
3 |
95,902,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL02970:Plekho1
|
APN |
3 |
95,898,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Plekho1
|
UTSW |
3 |
95,896,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Plekho1
|
UTSW |
3 |
95,896,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Plekho1
|
UTSW |
3 |
95,899,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Plekho1
|
UTSW |
3 |
95,902,964 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4860:Plekho1
|
UTSW |
3 |
95,896,305 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4860:Plekho1
|
UTSW |
3 |
95,896,305 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5020:Plekho1
|
UTSW |
3 |
95,896,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5237:Plekho1
|
UTSW |
3 |
95,902,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Plekho1
|
UTSW |
3 |
95,896,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Plekho1
|
UTSW |
3 |
95,896,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9069:Plekho1
|
UTSW |
3 |
95,902,995 (GRCm39) |
missense |
unknown |
|
|
R9733:Plekho1
|
UTSW |
3 |
95,903,091 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Plekho1
|
UTSW |
3 |
95,903,027 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation