Incidental Mutation 'IGL01876:Plekhm1'
| ID |
178892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhm1
|
| Ensembl Gene |
ENSMUSG00000034247 |
| Gene Name |
pleckstrin homology domain containing, family M (with RUN domain) member 1 |
| Synonyms |
AP162, B2, D330036J23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103255101-103303513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103267577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 798
(L798P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041272
AA Change: L798P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: L798P
| Domain | Start | End | E-Value | Type |
|---|
|
RUN
|
117 |
180 |
3.36e-20 |
SMART |
|
low complexity region
|
246 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
Blast:DUF4206
|
448 |
543 |
2e-11 |
BLAST |
|
PH
|
552 |
644 |
2.16e-9 |
SMART |
|
low complexity region
|
658 |
674 |
N/A |
INTRINSIC |
|
PH
|
702 |
797 |
2.15e-4 |
SMART |
|
DUF4206
|
864 |
1068 |
7.51e-103 |
SMART |
|
C1
|
1005 |
1058 |
2.72e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184350
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,249,299 (GRCm39) |
|
probably benign |
Het |
| Arhgap1 |
A |
G |
2: 91,480,564 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Or5ac17 |
A |
G |
16: 59,036,382 (GRCm39) |
V198A |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc2a1 |
G |
A |
4: 118,990,575 (GRCm39) |
D236N |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly damaging |
Het |
|
| Other mutations in Plekhm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Plekhm1
|
APN |
11 |
103,285,609 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02159:Plekhm1
|
APN |
11 |
103,271,057 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02404:Plekhm1
|
APN |
11 |
103,285,824 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02537:Plekhm1
|
APN |
11 |
103,288,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Plekhm1
|
APN |
11 |
103,285,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Plekhm1
|
APN |
11 |
103,264,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL03130:Plekhm1
|
APN |
11 |
103,268,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03208:Plekhm1
|
APN |
11 |
103,267,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0442:Plekhm1
|
UTSW |
11 |
103,288,000 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0491:Plekhm1
|
UTSW |
11 |
103,285,602 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0520:Plekhm1
|
UTSW |
11 |
103,285,770 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0964:Plekhm1
|
UTSW |
11 |
103,285,908 (GRCm39) |
nonsense |
probably null |
|
|
R1189:Plekhm1
|
UTSW |
11 |
103,277,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1501:Plekhm1
|
UTSW |
11 |
103,277,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1697:Plekhm1
|
UTSW |
11 |
103,267,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Plekhm1
|
UTSW |
11 |
103,285,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Plekhm1
|
UTSW |
11 |
103,264,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2087:Plekhm1
|
UTSW |
11 |
103,287,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2215:Plekhm1
|
UTSW |
11 |
103,267,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Plekhm1
|
UTSW |
11 |
103,277,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4256:Plekhm1
|
UTSW |
11 |
103,261,760 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4393:Plekhm1
|
UTSW |
11 |
103,267,791 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4526:Plekhm1
|
UTSW |
11 |
103,286,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5119:Plekhm1
|
UTSW |
11 |
103,278,141 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5975:Plekhm1
|
UTSW |
11 |
103,267,517 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6389:Plekhm1
|
UTSW |
11 |
103,257,720 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6454:Plekhm1
|
UTSW |
11 |
103,268,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Plekhm1
|
UTSW |
11 |
103,278,069 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6830:Plekhm1
|
UTSW |
11 |
103,267,715 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7039:Plekhm1
|
UTSW |
11 |
103,286,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Plekhm1
|
UTSW |
11 |
103,261,814 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7149:Plekhm1
|
UTSW |
11 |
103,285,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7349:Plekhm1
|
UTSW |
11 |
103,278,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7505:Plekhm1
|
UTSW |
11 |
103,270,855 (GRCm39) |
splice site |
probably null |
|
|
R7792:Plekhm1
|
UTSW |
11 |
103,287,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7867:Plekhm1
|
UTSW |
11 |
103,271,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Plekhm1
|
UTSW |
11 |
103,257,775 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8194:Plekhm1
|
UTSW |
11 |
103,285,886 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8725:Plekhm1
|
UTSW |
11 |
103,258,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Plekhm1
|
UTSW |
11 |
103,258,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Plekhm1
|
UTSW |
11 |
103,285,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Plekhm1
|
UTSW |
11 |
103,268,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8928:Plekhm1
|
UTSW |
11 |
103,268,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9681:Plekhm1
|
UTSW |
11 |
103,258,950 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0058:Plekhm1
|
UTSW |
11 |
103,268,192 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation