Incidental Mutation 'IGL02159:Plekhm1'
| ID |
282383 |
| 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 # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103255101-103303513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103271057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 478
(L478P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041272
AA Change: L478P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: L478P
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
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 |
|
IGL01876:Plekhm1
|
APN |
11 |
103,267,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation