Incidental Mutation 'R7149:Plekhm1'
| ID |
554015 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7149 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103255101-103303513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103285742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 231
(I231T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041272
AA Change: I231T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: I231T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
C |
11: 100,375,451 (GRCm39) |
F790V |
probably damaging |
Het |
| Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,737,650 (GRCm39) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,520 (GRCm39) |
L744* |
probably null |
Het |
| Capn9 |
A |
G |
8: 125,332,448 (GRCm39) |
D429G |
probably benign |
Het |
| CK137956 |
A |
T |
4: 127,864,626 (GRCm39) |
M1K |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,570,970 (GRCm39) |
P341S |
probably benign |
Het |
| Cracdl |
G |
A |
1: 37,651,352 (GRCm39) |
Q1172* |
probably null |
Het |
| Dld |
T |
G |
12: 31,385,589 (GRCm39) |
I251L |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,492 (GRCm39) |
K253R |
probably benign |
Het |
| Dnmt3a |
C |
T |
12: 3,952,397 (GRCm39) |
P696L |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,070,001 (GRCm39) |
K409E |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,712,511 (GRCm39) |
S172P |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,945 (GRCm39) |
N136S |
probably benign |
Het |
| Gm2663 |
A |
T |
6: 40,974,891 (GRCm39) |
L60Q |
probably damaging |
Het |
| Hdac10 |
A |
G |
15: 89,011,652 (GRCm39) |
F144S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,494 (GRCm39) |
T430A |
unknown |
Het |
| Itgb2l |
T |
C |
16: 96,234,759 (GRCm39) |
D244G |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,628,841 (GRCm39) |
Y115F |
probably benign |
Het |
| Llcfc1 |
C |
A |
6: 41,662,251 (GRCm39) |
A85E |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,527,872 (GRCm39) |
V4330M |
|
Het |
| Map3k13 |
A |
G |
16: 21,744,187 (GRCm39) |
E811G |
probably benign |
Het |
| Myl6b |
A |
G |
10: 128,333,068 (GRCm39) |
|
probably null |
Het |
| Myo15a |
G |
A |
11: 60,400,836 (GRCm39) |
A2997T |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,837,277 (GRCm39) |
D29G |
probably benign |
Het |
| Nepro |
T |
A |
16: 44,550,078 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,072,482 (GRCm39) |
R454* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,863 (GRCm39) |
V490A |
probably benign |
Het |
| Or1e1f |
G |
A |
11: 73,856,257 (GRCm39) |
M274I |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,306,260 (GRCm39) |
V224A |
probably damaging |
Het |
| Pde8b |
T |
G |
13: 95,223,349 (GRCm39) |
M197L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,571,895 (GRCm39) |
K1166* |
probably null |
Het |
| Ppp6r2 |
T |
C |
15: 89,146,599 (GRCm39) |
I199T |
probably damaging |
Het |
| Ptch1 |
G |
T |
13: 63,659,550 (GRCm39) |
H1368N |
probably benign |
Het |
| Ptprj |
T |
A |
2: 90,274,790 (GRCm39) |
T1191S |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,610,712 (GRCm39) |
S748P |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,222,079 (GRCm39) |
D445G |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,452,222 (GRCm39) |
S420P |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,129,908 (GRCm39) |
F160S |
possibly damaging |
Het |
| Sim1 |
G |
T |
10: 50,785,636 (GRCm39) |
R235L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,690,178 (GRCm39) |
S192P |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,716 (GRCm39) |
D101E |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,318,598 (GRCm39) |
V627M |
probably damaging |
Het |
| Supt20 |
G |
A |
3: 54,635,832 (GRCm39) |
R241H |
unknown |
Het |
| Tagln2 |
T |
A |
1: 172,333,386 (GRCm39) |
I80N |
probably damaging |
Het |
| Tmod2 |
G |
A |
9: 75,489,167 (GRCm39) |
T226I |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,654 (GRCm39) |
I827F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,989 (GRCm39) |
M714K |
possibly damaging |
Het |
| Vps8 |
C |
A |
16: 21,278,526 (GRCm39) |
D261E |
probably damaging |
Het |
| Yeats2 |
C |
A |
16: 19,972,939 (GRCm39) |
A31E |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,405 (GRCm39) |
R515Q |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,605 (GRCm39) |
S387G |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGGTTCCTCAGAATGGTC -3'
(R):5'- CGAGTACTATCAGCCCACAG -3'
Sequencing Primer
(F):5'- CAGAATGGTCTGGACTCTTGGGAC -3'
(R):5'- ACAGCCCTGCTTCGAGATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation