Incidental Mutation 'R6534:Plekhd1'
| ID |
520305 |
| 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 |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
80739375-80770990 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80754031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 166
(Y166H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140770]
|
| AlphaFold |
B2RPU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140770
AA Change: Y166H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: Y166H
| 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 |
noncoding transcript
Transcript: ENSMUST00000152465
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
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 |
|
R5648:Plekhd1
|
UTSW |
12 |
80,767,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Plekhd1
|
UTSW |
12 |
80,769,140 (GRCm39) |
missense |
probably benign |
|
|
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'- GCACAGAAAATGTACACTCTCCTTC -3'
(R):5'- AACACCTGAGGTCATGTTGG -3'
Sequencing Primer
(F):5'- AGAAAATGTACACTCTCCTTCTCCCC -3'
(R):5'- TAAAGCCCAGGTTTTGGCCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation