Incidental Mutation 'IGL02198:Plekho1'
| ID |
284122 |
| 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: 0.141)
|
| Stock # |
IGL02198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95896110-95903258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95899496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 99
(N99I)
|
| 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: N90I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: N90I
| 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 |
possibly damaging
Transcript: ENSMUST00000123006
AA Change: N81I
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: N81I
| 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: N99I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: N99I
| 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: N82I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
AA Change: N82I
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
G |
2: 131,388,412 (GRCm39) |
I381T |
probably damaging |
Het |
| Armt1 |
T |
A |
10: 4,404,064 (GRCm39) |
F383Y |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,932,445 (GRCm39) |
V486A |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,933,733 (GRCm39) |
L615S |
probably damaging |
Het |
| Clec2h |
C |
A |
6: 128,650,979 (GRCm39) |
C86* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,508,262 (GRCm39) |
T1258I |
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,628 (GRCm39) |
M262K |
possibly damaging |
Het |
| Dmpk |
C |
A |
7: 18,822,117 (GRCm39) |
F332L |
probably damaging |
Het |
| Dnaaf4 |
G |
A |
9: 72,876,348 (GRCm39) |
V308I |
probably benign |
Het |
| Fap |
A |
G |
2: 62,385,142 (GRCm39) |
F73L |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,233,399 (GRCm39) |
I1778N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,797,655 (GRCm39) |
T71A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,224,725 (GRCm39) |
A1389S |
probably damaging |
Het |
| Mob3b |
T |
C |
4: 35,083,983 (GRCm39) |
N69D |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,023,070 (GRCm39) |
W21R |
probably damaging |
Het |
| Or4f56 |
A |
T |
2: 111,703,593 (GRCm39) |
N202K |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,596 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,394,041 (GRCm39) |
K137N |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,536 (GRCm39) |
N112S |
probably damaging |
Het |
| Recql5 |
A |
C |
11: 115,785,499 (GRCm39) |
S666A |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,338,833 (GRCm39) |
H615Q |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,141 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,590,258 (GRCm39) |
S328T |
probably damaging |
Het |
| Taok1 |
T |
C |
11: 77,466,503 (GRCm39) |
|
probably benign |
Het |
| Tsnax |
T |
A |
8: 125,759,451 (GRCm39) |
Y237* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,974 (GRCm39) |
K24382N |
probably damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,165 (GRCm39) |
V205E |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,569,145 (GRCm39) |
D933E |
possibly damaging |
Het |
| Vnn1 |
A |
T |
10: 23,779,323 (GRCm39) |
T411S |
probably benign |
Het |
| Wdr27 |
C |
A |
17: 15,128,860 (GRCm39) |
G531V |
possibly damaging |
Het |
| Zfp760 |
G |
T |
17: 21,941,193 (GRCm39) |
V123L |
probably benign |
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 |
|
IGL02395:Plekho1
|
APN |
3 |
95,902,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL02898:Plekho1
|
APN |
3 |
95,899,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation