Incidental Mutation 'R8124:Plekhm1'
| ID |
631654 |
| 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 |
067553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103255101-103303513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103257775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1053
(V1053A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
[ENSMUST00000092557]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041272
AA Change: V1053A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: V1053A
| 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: ENSMUST00000092557
|
| SMART Domains |
Protein: ENSMUSP00000102637
Gene: ENSMUSG00000034255
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
9 |
68 |
1.59e-1 |
SMART |
|
low complexity region
|
73 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184350
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
T |
A |
5: 24,683,128 (GRCm39) |
I320N |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,487 (GRCm39) |
G1924S |
probably damaging |
Het |
| Ap2a2 |
G |
A |
7: 141,178,757 (GRCm39) |
R141H |
probably benign |
Het |
| Atf7ip2 |
T |
C |
16: 10,026,999 (GRCm39) |
V89A |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
| Dab2 |
T |
A |
15: 6,458,878 (GRCm39) |
C263* |
probably null |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,497,142 (GRCm39) |
I1119N |
probably damaging |
Het |
| Dpy30 |
A |
G |
17: 74,623,099 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,008,211 (GRCm39) |
A780T |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,451 (GRCm39) |
D1546G |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| F13a1 |
T |
C |
13: 37,209,779 (GRCm39) |
K62R |
probably damaging |
Het |
| Gm2832 |
T |
C |
14: 41,000,894 (GRCm39) |
M44T |
|
Het |
| Gm9195 |
T |
C |
14: 72,680,063 (GRCm39) |
I2249V |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,290,136 (GRCm39) |
V2323A |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,307,777 (GRCm39) |
N20K |
probably damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,863 (GRCm39) |
F146S |
probably damaging |
Het |
| Lgi3 |
A |
G |
14: 70,772,178 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,954 (GRCm39) |
D275E |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,005 (GRCm39) |
S444R |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,511,257 (GRCm39) |
V237A |
unknown |
Het |
| Mip |
T |
C |
10: 128,062,070 (GRCm39) |
V107A |
possibly damaging |
Het |
| Mtrex |
A |
C |
13: 113,063,871 (GRCm39) |
D7E |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,398,279 (GRCm39) |
V1581M |
|
Het |
| Nckap1l |
A |
G |
15: 103,382,248 (GRCm39) |
D481G |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,323,874 (GRCm39) |
|
probably null |
Het |
| Or11h4 |
C |
T |
14: 50,973,743 (GRCm39) |
R292H |
probably benign |
Het |
| Or2d3 |
G |
A |
7: 106,491,088 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or5a21 |
T |
A |
19: 12,310,834 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or5p1 |
C |
A |
7: 107,916,984 (GRCm39) |
N294K |
possibly damaging |
Het |
| Or8g27 |
T |
C |
9: 39,128,967 (GRCm39) |
F105L |
probably benign |
Het |
| Pilrb2 |
T |
A |
5: 137,869,306 (GRCm39) |
E98V |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,861,835 (GRCm39) |
V485E |
probably damaging |
Het |
| Riox2 |
G |
A |
16: 59,306,954 (GRCm39) |
E282K |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,549,228 (GRCm39) |
V379E |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,729,211 (GRCm38) |
E20K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,210,711 (GRCm39) |
|
probably null |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tent4a |
G |
A |
13: 69,681,716 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,869,624 (GRCm39) |
Q570R |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,222,676 (GRCm39) |
T168A |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,207,995 (GRCm39) |
R1747G |
probably benign |
Het |
| Txk |
C |
T |
5: 72,860,606 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,852,373 (GRCm39) |
L862F |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,626,844 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
G |
T |
2: 120,354,812 (GRCm39) |
Q1343K |
probably benign |
Het |
| Zfp719 |
A |
G |
7: 43,239,314 (GRCm39) |
T301A |
probably benign |
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 |
|
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 |
|
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'- CTCTTGGAGCAGAAGGGTTG -3'
(R):5'- ACTTAAGGATTCAGTATCTGACCTGC -3'
Sequencing Primer
(F):5'- ATCACTGGGACTTCCTGCG -3'
(R):5'- ACCTGCTTTCCAAGGGATTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation