Incidental Mutation 'IGL02970:Plekho1'
| ID |
365768 |
| 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 # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95896110-95903258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95898214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 150
(V150I)
|
| 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: V141I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: V141I
| 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: ENSMUST00000123006
|
| SMART Domains |
Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
| 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: V150I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: V150I
| 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 benign
Transcript: ENSMUST00000143485
|
| SMART Domains |
Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| T |
C |
T |
17: 8,654,217 (GRCm39) |
A134V |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly 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 |
|
|
IGL02898:Plekho1
|
APN |
3 |
95,899,493 (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