Incidental Mutation 'R8734:Plekhm1'
| ID |
662933 |
| 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 |
068582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8734 (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 T
at 103285778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 219
(L219Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041272]
|
| AlphaFold |
Q7TSI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041272
AA Change: L219Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247
AA Change: L219Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,770,855 (GRCm39) |
C5S |
probably damaging |
Het |
| Actl6a |
G |
A |
3: 32,774,104 (GRCm39) |
D275N |
probably benign |
Het |
| Ahctf1 |
C |
A |
1: 179,608,430 (GRCm39) |
E681* |
probably null |
Het |
| Ankub1 |
G |
A |
3: 57,599,706 (GRCm39) |
S21L |
probably benign |
Het |
| Apmap |
T |
A |
2: 150,430,824 (GRCm39) |
K178N |
probably benign |
Het |
| Arhgap15 |
T |
A |
2: 44,133,130 (GRCm39) |
N345K |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,402,538 (GRCm39) |
V379A |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,681,525 (GRCm39) |
D175N |
possibly damaging |
Het |
| Atp5pd |
T |
C |
11: 115,307,689 (GRCm39) |
E94G |
possibly damaging |
Het |
| B3gnt3 |
G |
A |
8: 72,146,145 (GRCm39) |
T128M |
probably damaging |
Het |
| Ccdc88c |
T |
A |
12: 100,906,394 (GRCm39) |
T1040S |
probably damaging |
Het |
| Crot |
C |
T |
5: 9,028,208 (GRCm39) |
R247Q |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,035 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,021,427 (GRCm39) |
W540R |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,455,222 (GRCm39) |
I186T |
possibly damaging |
Het |
| Gne |
T |
A |
4: 44,072,911 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,688,201 (GRCm39) |
F299I |
probably benign |
Het |
| Gpr37l1 |
C |
T |
1: 135,095,167 (GRCm39) |
A26T |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,657,765 (GRCm39) |
Y414H |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,188,320 (GRCm39) |
I954T |
possibly damaging |
Het |
| Lias |
T |
C |
5: 65,561,552 (GRCm39) |
Y308H |
probably damaging |
Het |
| Lrrc27 |
T |
A |
7: 138,796,515 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
C |
T |
2: 30,146,619 (GRCm39) |
H478Y |
probably benign |
Het |
| Mdh2 |
T |
A |
5: 135,812,983 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,848,340 (GRCm39) |
I688K |
probably benign |
Het |
| Nrp1 |
A |
G |
8: 129,207,420 (GRCm39) |
D605G |
probably benign |
Het |
| Nt5dc3 |
A |
G |
10: 86,669,863 (GRCm39) |
Y486C |
possibly damaging |
Het |
| Or5m13 |
T |
A |
2: 85,748,993 (GRCm39) |
C241* |
probably null |
Het |
| Or8s16 |
A |
T |
15: 98,210,954 (GRCm39) |
L159H |
probably damaging |
Het |
| Or9s23 |
T |
A |
1: 92,501,121 (GRCm39) |
V76D |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,762,127 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,609,550 (GRCm39) |
L14P |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,581,481 (GRCm39) |
I254T |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,128,567 (GRCm39) |
C700S |
probably damaging |
Het |
| Pglyrp2 |
A |
G |
17: 32,634,976 (GRCm39) |
F462S |
probably damaging |
Het |
| Plaat3 |
T |
A |
19: 7,552,347 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,632,018 (GRCm39) |
S28T |
possibly damaging |
Het |
| Prrc2c |
A |
T |
1: 162,507,081 (GRCm39) |
S2529R |
possibly damaging |
Het |
| Prss3 |
G |
T |
6: 41,350,827 (GRCm39) |
A221D |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,557,874 (GRCm39) |
|
probably benign |
Het |
| Retreg1 |
T |
C |
15: 25,968,493 (GRCm39) |
L83S |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,764,651 (GRCm39) |
|
probably benign |
Het |
| Slc25a47 |
T |
A |
12: 108,820,247 (GRCm39) |
F84I |
probably benign |
Het |
| Sntb2 |
A |
G |
8: 107,728,320 (GRCm39) |
I423V |
probably benign |
Het |
| Spart |
A |
T |
3: 55,032,300 (GRCm39) |
D378V |
possibly damaging |
Het |
| Spint2 |
A |
T |
7: 28,958,835 (GRCm39) |
F127Y |
probably damaging |
Het |
| Stag3 |
A |
G |
5: 138,310,050 (GRCm39) |
T1233A |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,802,391 (GRCm39) |
I390T |
probably benign |
Het |
| Tigd2 |
A |
G |
6: 59,187,184 (GRCm39) |
D17G |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,179,936 (GRCm39) |
A812S |
probably benign |
Het |
| Tmem234 |
A |
G |
4: 129,501,317 (GRCm39) |
T133A |
probably benign |
Het |
| Trnp1 |
A |
G |
4: 133,225,380 (GRCm39) |
F130S |
possibly damaging |
Het |
| Tsr1 |
A |
G |
11: 74,794,652 (GRCm39) |
S436G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,541,032 (GRCm39) |
I33985V |
probably benign |
Het |
| Usp34 |
A |
C |
11: 23,394,184 (GRCm39) |
D2278A |
|
Het |
| Vav3 |
T |
A |
3: 109,565,285 (GRCm39) |
F727Y |
probably benign |
Het |
| Vcl |
T |
C |
14: 21,060,236 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,880,685 (GRCm39) |
D3507E |
probably damaging |
Het |
| Vtn |
A |
G |
11: 78,391,090 (GRCm39) |
|
probably benign |
Het |
| Zfp319 |
A |
G |
8: 96,054,938 (GRCm39) |
S422P |
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 |
|
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 |
|
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'- TGGGACCATTCTCTTGGAGC -3'
(R):5'- TGCGAGTACTATCAGCCCACAG -3'
Sequencing Primer
(F):5'- ACCATTCTCTTGGAGCAGGCAG -3'
(R):5'- ACAGCCCTGCTTCGAGATG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation