Incidental Mutation 'IGL02882:Plekhd1'
| ID |
362859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhd1
|
| Ensembl Gene |
ENSMUSG00000066438 |
| Gene Name |
pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 |
| Synonyms |
3830431G21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02882
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
80739375-80770990 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 80765781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140770]
|
| AlphaFold |
B2RPU2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000140770
|
| SMART Domains |
Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,188,786 (GRCm39) |
L469* |
probably null |
Het |
| Calr3 |
T |
A |
8: 73,188,665 (GRCm39) |
Y46F |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,293,464 (GRCm39) |
C491R |
probably damaging |
Het |
| Col6a5 |
G |
T |
9: 105,811,520 (GRCm39) |
D666E |
unknown |
Het |
| D130052B06Rik |
G |
A |
11: 33,573,780 (GRCm39) |
V126M |
probably damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,833 (GRCm39) |
I389M |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,569,253 (GRCm39) |
I160V |
possibly damaging |
Het |
| Enpp6 |
T |
C |
8: 47,483,567 (GRCm39) |
S120P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,094,115 (GRCm39) |
I459T |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,324,910 (GRCm39) |
|
probably benign |
Het |
| Foxn2 |
T |
C |
17: 88,770,375 (GRCm39) |
L74P |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,325 (GRCm39) |
V264A |
probably benign |
Het |
| Gmeb2 |
G |
A |
2: 180,907,676 (GRCm39) |
T54I |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,303,379 (GRCm39) |
K3007* |
probably null |
Het |
| Ice1 |
A |
T |
13: 70,772,593 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
A |
G |
19: 38,272,453 (GRCm39) |
D84G |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,383,555 (GRCm39) |
I196V |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,600,223 (GRCm39) |
Y198C |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,077 (GRCm39) |
S176R |
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Pam |
A |
C |
1: 97,768,092 (GRCm39) |
C713G |
probably damaging |
Het |
| Pcdh17 |
C |
A |
14: 84,684,101 (GRCm39) |
D189E |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,276 (GRCm39) |
I318N |
possibly damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,502,233 (GRCm39) |
S300P |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,497 (GRCm39) |
S1480P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,444,878 (GRCm39) |
S757C |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,469,383 (GRCm39) |
K163* |
probably null |
Het |
| Serpina3f |
A |
T |
12: 104,183,263 (GRCm39) |
T42S |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,221,104 (GRCm39) |
N456D |
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,664,143 (GRCm39) |
L95Q |
possibly damaging |
Het |
| Tln1 |
A |
G |
4: 43,539,522 (GRCm39) |
V1600A |
probably benign |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,424 (GRCm39) |
Y188H |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,994 (GRCm39) |
K741R |
probably benign |
Het |
|
| Other mutations in Plekhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation