Incidental Mutation 'R1560:Plekhm3'
ID |
170527 |
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 |
039599-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R1560 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
64828279-64995983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64976976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 165
(T165A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097713]
[ENSMUST00000123225]
[ENSMUST00000139649]
|
AlphaFold |
Q8BM47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097713
AA Change: T165A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000095320 Gene: ENSMUSG00000051344 AA Change: T165A
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 benign
Transcript: ENSMUST00000123225
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139649
AA Change: T165A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000138002 Gene: ENSMUSG00000051344 AA Change: T165A
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: ENSMUST00000181350
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
Otop3 |
A |
T |
11: 115,235,289 (GRCm39) |
H307L |
possibly damaging |
Het |
Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc27a6 |
T |
A |
18: 58,712,904 (GRCm39) |
L242* |
probably null |
Het |
Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
Taf4 |
A |
G |
2: 179,577,746 (GRCm39) |
V525A |
probably benign |
Het |
Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
A |
7: 98,002,151 (GRCm39) |
D60V |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
probably null |
Het |
Zfp512b |
T |
C |
2: 181,230,472 (GRCm39) |
T473A |
probably benign |
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 |
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 |
|
R4496:Plekhm3
|
UTSW |
1 |
64,900,395 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGCAGTATCAAGCAGTGTTCAGAGG -3'
(R):5'- TGCCAAAGAACAGCTTATGGTCCAG -3'
Sequencing Primer
(F):5'- GGAGACTTAACGGAAGTCATAATATC -3'
(R):5'- CAGATAATCTTTCCTGGATGGCAC -3'
|
Posted On |
2014-04-13 |