Incidental Mutation 'R4496:Plekhm3'
| ID |
330957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhm3
|
| Ensembl Gene |
ENSMUSG00000051344 |
| Gene Name |
pleckstrin homology domain containing, family M, member 3 |
| Synonyms |
Plekhm1l, A230102O09Rik, 9430067K14Rik |
| MMRRC Submission |
041749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R4496 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64900395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 634
(E634G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000139649]
|
| AlphaFold |
Q8BM47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097713
AA Change: E634G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095320
Gene: ENSMUSG00000051344
AA Change: E634G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PH
|
213 |
311 |
4.86e-3 |
SMART |
|
PH
|
362 |
458 |
7.88e-12 |
SMART |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
DUF4206
|
529 |
732 |
2.73e-114 |
SMART |
|
C1
|
670 |
722 |
3.9e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139649
AA Change: E634G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138002
Gene: ENSMUSG00000051344
AA Change: E634G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PH
|
213 |
311 |
4.86e-3 |
SMART |
|
PH
|
362 |
458 |
7.88e-12 |
SMART |
|
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
|
DUF4206
|
529 |
732 |
2.73e-114 |
SMART |
|
C1
|
670 |
722 |
3.9e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140857
|
| Meta Mutation Damage Score |
0.1482 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
| Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
| Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
| Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
| Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
| Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
| Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
| Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
| Ndst4 |
C |
A |
3: 125,476,922 (GRCm39) |
A49D |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
| Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
| Plxdc2 |
T |
A |
2: 16,517,040 (GRCm39) |
I107K |
probably damaging |
Het |
| Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,065,407 (GRCm39) |
V160E |
possibly damaging |
Het |
| Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
| Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,676 (GRCm39) |
D41G |
probably damaging |
Het |
| Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
| Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
| Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
probably damaging |
Het |
|
| Other mutations in Plekhm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Plekhm3
|
APN |
1 |
64,960,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01732:Plekhm3
|
APN |
1 |
64,961,407 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02422:Plekhm3
|
APN |
1 |
64,961,025 (GRCm39) |
nonsense |
probably null |
|
|
IGL02724:Plekhm3
|
APN |
1 |
64,834,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03226:Plekhm3
|
APN |
1 |
64,960,959 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03250:Plekhm3
|
APN |
1 |
64,977,206 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0124:Plekhm3
|
UTSW |
1 |
64,960,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1336:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R1467:Plekhm3
|
UTSW |
1 |
64,932,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Plekhm3
|
UTSW |
1 |
64,932,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Plekhm3
|
UTSW |
1 |
64,976,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1901:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R2328:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R2432:Plekhm3
|
UTSW |
1 |
64,977,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R3023:Plekhm3
|
UTSW |
1 |
64,976,940 (GRCm39) |
small deletion |
probably benign |
|
|
R4529:Plekhm3
|
UTSW |
1 |
64,976,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4682:Plekhm3
|
UTSW |
1 |
64,977,086 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4969:Plekhm3
|
UTSW |
1 |
64,977,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Plekhm3
|
UTSW |
1 |
64,859,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Plekhm3
|
UTSW |
1 |
64,961,045 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5583:Plekhm3
|
UTSW |
1 |
64,977,145 (GRCm39) |
nonsense |
probably null |
|
|
R5953:Plekhm3
|
UTSW |
1 |
64,977,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6319:Plekhm3
|
UTSW |
1 |
64,961,093 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Plekhm3
|
UTSW |
1 |
64,931,912 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7014:Plekhm3
|
UTSW |
1 |
64,922,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Plekhm3
|
UTSW |
1 |
64,977,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7570:Plekhm3
|
UTSW |
1 |
64,977,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Plekhm3
|
UTSW |
1 |
64,922,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7719:Plekhm3
|
UTSW |
1 |
64,960,901 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7894:Plekhm3
|
UTSW |
1 |
64,960,874 (GRCm39) |
missense |
probably benign |
|
|
R8808:Plekhm3
|
UTSW |
1 |
64,922,355 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9069:Plekhm3
|
UTSW |
1 |
64,960,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9296:Plekhm3
|
UTSW |
1 |
64,961,639 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9788:Plekhm3
|
UTSW |
1 |
64,961,422 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGTAGTTGGGAGCAGAATC -3'
(R):5'- CATACCTAGGATGAGAAGCCAG -3'
Sequencing Primer
(F):5'- GCTGCTAAACTCTGTCCAAAGTGG -3'
(R):5'- TTTCGAGTTCAAGGCCACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation