Incidental Mutation 'IGL02395:Plekho1'
| ID |
294317 |
| 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 # |
IGL02395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95896110-95903258 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 95902876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 36
(Y36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015889]
[ENSMUST00000015891]
[ENSMUST00000123006]
[ENSMUST00000130043]
[ENSMUST00000143485]
|
| AlphaFold |
Q9JIY0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000015889
AA Change: Y44*
|
| SMART Domains |
Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: Y44*
| 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 benign
Transcript: ENSMUST00000015891
|
| SMART Domains |
Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
23 |
546 |
3e-119 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123006
AA Change: Y35*
|
| SMART Domains |
Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: Y35*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
12 |
124 |
2.68e-14 |
SMART |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130043
AA Change: Y53*
|
| SMART Domains |
Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: Y53*
| 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 null
Transcript: ENSMUST00000143485
AA Change: Y36*
|
| SMART Domains |
Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
AA Change: Y36*
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,617,496 (GRCm39) |
C540S |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,624,635 (GRCm39) |
V252A |
possibly damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,725 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,065,081 (GRCm39) |
F678I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,204,255 (GRCm39) |
D18G |
probably damaging |
Het |
| Efcab11 |
C |
A |
12: 99,820,868 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,387,033 (GRCm39) |
E162G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,622,777 (GRCm39) |
S252P |
probably damaging |
Het |
| Filip1 |
G |
A |
9: 79,805,692 (GRCm39) |
P21S |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,864,887 (GRCm39) |
D627E |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,385,833 (GRCm39) |
D254G |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,551,853 (GRCm39) |
|
probably null |
Het |
| Mapk15 |
T |
C |
15: 75,870,019 (GRCm39) |
S380P |
probably benign |
Het |
| Mrpl48 |
G |
T |
7: 100,195,551 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,862,078 (GRCm39) |
I184L |
possibly damaging |
Het |
| Nrk |
A |
G |
X: 137,876,935 (GRCm39) |
E712G |
probably damaging |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or4k6 |
C |
A |
14: 50,475,886 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,426 (GRCm39) |
T81A |
possibly damaging |
Het |
| Or6z6 |
C |
T |
7: 6,491,802 (GRCm39) |
V17M |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,221,213 (GRCm39) |
H11L |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,471,756 (GRCm39) |
M466K |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfrsf22 |
A |
T |
7: 143,197,053 (GRCm39) |
N95K |
probably damaging |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,822 (GRCm39) |
Y92C |
probably damaging |
Het |
| Zc2hc1a |
T |
A |
3: 7,593,684 (GRCm39) |
L214* |
probably null |
Het |
| Zcchc17 |
C |
A |
4: 130,230,920 (GRCm39) |
V90F |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,761,868 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,187 (GRCm39) |
V821A |
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 |
|
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