Incidental Mutation 'R2087:Plekhm1'
| ID |
231537 |
| 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 |
| MMRRC Submission |
040092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2087 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103255101-103303513 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 103287851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041272
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
| 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
|
| Meta Mutation Damage Score |
0.9597 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
A |
19: 24,042,364 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts8 |
G |
A |
9: 30,873,408 (GRCm39) |
R871Q |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,583,827 (GRCm39) |
L310S |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,871,274 (GRCm39) |
T592A |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,747,998 (GRCm39) |
D219G |
possibly damaging |
Het |
| Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
| Ccdc14 |
T |
C |
16: 34,516,015 (GRCm39) |
|
probably null |
Het |
| Ces1c |
A |
C |
8: 93,834,230 (GRCm39) |
N353K |
probably benign |
Het |
| Chrna6 |
T |
A |
8: 27,897,155 (GRCm39) |
M241L |
probably benign |
Het |
| Chtf8 |
T |
A |
8: 107,612,568 (GRCm39) |
R124* |
probably null |
Het |
| Cpt1b |
A |
G |
15: 89,306,411 (GRCm39) |
V296A |
probably benign |
Het |
| Cryl1 |
G |
A |
14: 57,513,402 (GRCm39) |
S273L |
possibly damaging |
Het |
| Ctps1 |
T |
C |
4: 120,420,012 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,754,832 (GRCm39) |
M138V |
probably benign |
Het |
| Dnajb12 |
A |
G |
10: 59,726,667 (GRCm39) |
K107R |
possibly damaging |
Het |
| Epha1 |
C |
T |
6: 42,340,502 (GRCm39) |
D590N |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,505,703 (GRCm39) |
V855A |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,287,738 (GRCm39) |
Y822C |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,729,320 (GRCm39) |
D622G |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,422 (GRCm39) |
N395I |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,696,564 (GRCm39) |
S427P |
possibly damaging |
Het |
| Krt12 |
A |
G |
11: 99,309,459 (GRCm39) |
F267S |
probably damaging |
Het |
| Lrrn2 |
T |
G |
1: 132,865,489 (GRCm39) |
F185V |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,006,963 (GRCm39) |
S764P |
probably benign |
Het |
| Mfsd14b |
C |
G |
13: 65,215,796 (GRCm39) |
G386R |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,314,155 (GRCm39) |
S227P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,833,250 (GRCm39) |
N285S |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,518,557 (GRCm39) |
T1661A |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,248,079 (GRCm39) |
R1742* |
probably null |
Het |
| Nln |
T |
A |
13: 104,173,877 (GRCm39) |
H548L |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or2r3 |
A |
T |
6: 42,448,985 (GRCm39) |
N42K |
probably damaging |
Het |
| Or56b34 |
T |
A |
7: 104,937,393 (GRCm39) |
I31N |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,710,927 (GRCm39) |
Y425C |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,786 (GRCm39) |
D242G |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,124,881 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,722,209 (GRCm39) |
L415I |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,522,075 (GRCm39) |
T291A |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,517,692 (GRCm39) |
I238T |
probably benign |
Het |
| Rp1 |
G |
A |
1: 4,418,575 (GRCm39) |
H846Y |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,374,079 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,049,313 (GRCm39) |
D258G |
unknown |
Het |
| Ska1 |
A |
T |
18: 74,339,920 (GRCm39) |
C9S |
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc43a1 |
G |
A |
2: 84,680,175 (GRCm39) |
R107Q |
probably damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,319,319 (GRCm39) |
N141Y |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,625,922 (GRCm39) |
D613E |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,231,079 (GRCm39) |
Y111F |
probably benign |
Het |
| Tchh |
C |
A |
3: 93,351,225 (GRCm39) |
R222S |
unknown |
Het |
| Tekt3 |
A |
G |
11: 62,985,523 (GRCm39) |
D443G |
possibly damaging |
Het |
| Tns2 |
A |
T |
15: 102,015,554 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,976,698 (GRCm39) |
V274A |
possibly damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,995 (GRCm39) |
Y136C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,458 (GRCm39) |
M604L |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,597,639 (GRCm39) |
W1060R |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,042,926 (GRCm39) |
S1942P |
probably damaging |
Het |
| Wdr90 |
G |
A |
17: 26,065,577 (GRCm39) |
T1596I |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,150,865 (GRCm39) |
E69G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGAGTCTAAAGGTCATTAGTG -3'
(R):5'- TGTCTCTGGACACAGTGGTC -3'
Sequencing Primer
(F):5'- AGTCTAAAGGTCATTAGTGCTGGG -3'
(R):5'- TCTGGACACAGTGGTCACCAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation