Incidental Mutation 'R5648:Plekhd1'
ID |
441284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhd1
|
Ensembl Gene |
ENSMUSG00000066438 |
Gene Name |
pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 |
Synonyms |
3830431G21Rik |
MMRRC Submission |
043169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R5648 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
80739375-80770990 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80767362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 250
(L250P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140770]
|
AlphaFold |
B2RPU2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140770
AA Change: L250P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119711 Gene: ENSMUSG00000066438 AA Change: L250P
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
PH
|
29 |
138 |
9.19e-13 |
SMART |
coiled coil region
|
146 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153762
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,326,510 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,988 (GRCm39) |
V340A |
probably damaging |
Het |
Cald1 |
G |
T |
6: 34,739,267 (GRCm39) |
|
probably null |
Het |
Col24a1 |
C |
T |
3: 145,064,321 (GRCm39) |
T702I |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,452,049 (GRCm39) |
R725G |
unknown |
Het |
Dnah9 |
A |
T |
11: 65,818,581 (GRCm39) |
F68L |
probably benign |
Het |
Dnmt3b |
G |
A |
2: 153,519,118 (GRCm39) |
V651M |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,348,683 (GRCm39) |
C299Y |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,375,162 (GRCm39) |
I562V |
probably benign |
Het |
Esco2 |
A |
T |
14: 66,068,641 (GRCm39) |
V223D |
probably damaging |
Het |
Ggt6 |
T |
C |
11: 72,326,542 (GRCm39) |
I33T |
possibly damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm9847 |
A |
G |
12: 14,545,130 (GRCm39) |
|
noncoding transcript |
Het |
Gnao1 |
A |
T |
8: 94,676,070 (GRCm39) |
Y116F |
probably damaging |
Het |
Gvin1 |
A |
T |
7: 105,762,606 (GRCm39) |
I621K |
possibly damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,235 (GRCm39) |
M56T |
possibly damaging |
Het |
Hyou1 |
T |
A |
9: 44,296,546 (GRCm39) |
D490E |
probably damaging |
Het |
Igsf10 |
G |
C |
3: 59,235,574 (GRCm39) |
Q1536E |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,448,068 (GRCm39) |
S31P |
possibly damaging |
Het |
Map3k6 |
A |
C |
4: 132,970,646 (GRCm39) |
I178L |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,528,778 (GRCm39) |
N427Y |
probably damaging |
Het |
Ncr1 |
T |
A |
7: 4,347,519 (GRCm39) |
I228N |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,895,233 (GRCm39) |
Y319N |
probably damaging |
Het |
Or4a80 |
A |
C |
2: 89,582,417 (GRCm39) |
C252G |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,854,848 (GRCm39) |
V120A |
probably damaging |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,628,850 (GRCm39) |
Y699F |
probably benign |
Het |
Reln |
A |
G |
5: 22,203,570 (GRCm39) |
V1228A |
probably benign |
Het |
Rhobtb2 |
G |
T |
14: 70,034,593 (GRCm39) |
R211S |
probably damaging |
Het |
Rps6kb1 |
T |
C |
11: 86,403,697 (GRCm39) |
I305V |
possibly damaging |
Het |
Slc12a2 |
G |
A |
18: 58,029,382 (GRCm39) |
G256E |
possibly damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,708,129 (GRCm39) |
|
probably null |
Het |
Thoc1 |
A |
G |
18: 9,962,390 (GRCm39) |
T92A |
possibly damaging |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
G |
15: 94,992,653 (GRCm39) |
S438A |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,667,465 (GRCm39) |
N777S |
probably damaging |
Het |
Ubd |
T |
A |
17: 37,506,345 (GRCm39) |
V77E |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,790,117 (GRCm39) |
S658P |
probably damaging |
Het |
Vmn1r78 |
G |
A |
7: 11,886,693 (GRCm39) |
M101I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,426,974 (GRCm39) |
C638R |
probably benign |
Het |
Zfp983 |
T |
A |
17: 21,877,947 (GRCm39) |
V50D |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,881 (GRCm39) |
H95Q |
probably damaging |
Het |
|
Other mutations in Plekhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02882:Plekhd1
|
APN |
12 |
80,765,781 (GRCm39) |
critical splice donor site |
probably null |
|
R0377:Plekhd1
|
UTSW |
12 |
80,753,210 (GRCm39) |
splice site |
probably benign |
|
R0462:Plekhd1
|
UTSW |
12 |
80,768,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Plekhd1
|
UTSW |
12 |
80,764,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R1125:Plekhd1
|
UTSW |
12 |
80,753,998 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1344:Plekhd1
|
UTSW |
12 |
80,739,659 (GRCm39) |
missense |
probably benign |
|
R1418:Plekhd1
|
UTSW |
12 |
80,739,659 (GRCm39) |
missense |
probably benign |
|
R1694:Plekhd1
|
UTSW |
12 |
80,769,095 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2070:Plekhd1
|
UTSW |
12 |
80,739,681 (GRCm39) |
nonsense |
probably null |
|
R2073:Plekhd1
|
UTSW |
12 |
80,768,066 (GRCm39) |
missense |
probably benign |
0.19 |
R2231:Plekhd1
|
UTSW |
12 |
80,768,725 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2326:Plekhd1
|
UTSW |
12 |
80,768,873 (GRCm39) |
splice site |
probably null |
|
R3615:Plekhd1
|
UTSW |
12 |
80,764,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R3616:Plekhd1
|
UTSW |
12 |
80,764,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4899:Plekhd1
|
UTSW |
12 |
80,769,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4955:Plekhd1
|
UTSW |
12 |
80,768,795 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5028:Plekhd1
|
UTSW |
12 |
80,739,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Plekhd1
|
UTSW |
12 |
80,767,410 (GRCm39) |
missense |
probably benign |
0.00 |
R5615:Plekhd1
|
UTSW |
12 |
80,767,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R5766:Plekhd1
|
UTSW |
12 |
80,769,140 (GRCm39) |
missense |
probably benign |
|
R6534:Plekhd1
|
UTSW |
12 |
80,754,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R7003:Plekhd1
|
UTSW |
12 |
80,768,734 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7615:Plekhd1
|
UTSW |
12 |
80,769,219 (GRCm39) |
missense |
probably benign |
0.02 |
R7656:Plekhd1
|
UTSW |
12 |
80,768,934 (GRCm39) |
splice site |
probably null |
|
R8348:Plekhd1
|
UTSW |
12 |
80,753,149 (GRCm39) |
missense |
probably damaging |
0.97 |
R8448:Plekhd1
|
UTSW |
12 |
80,753,149 (GRCm39) |
missense |
probably damaging |
0.97 |
R8750:Plekhd1
|
UTSW |
12 |
80,752,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8883:Plekhd1
|
UTSW |
12 |
80,767,368 (GRCm39) |
missense |
probably benign |
0.13 |
R9220:Plekhd1
|
UTSW |
12 |
80,768,726 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9235:Plekhd1
|
UTSW |
12 |
80,768,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9553:Plekhd1
|
UTSW |
12 |
80,753,977 (GRCm39) |
missense |
probably benign |
0.09 |
R9604:Plekhd1
|
UTSW |
12 |
80,739,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCGTGTTCTAAGAAAGGAG -3'
(R):5'- TAACTCGAAGGCAGACACAG -3'
Sequencing Primer
(F):5'- CCGTGTTCTAAGAAAGGAGATCTTG -3'
(R):5'- AGCCCCTCAGATGCTTAAGG -3'
|
Posted On |
2016-11-08 |