Incidental Mutation 'IGL01707:Plekhh1'
| ID |
104641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plekhh1
|
| Ensembl Gene |
ENSMUSG00000060716 |
| Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 |
| Synonyms |
D630024D12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79125738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1258
(V1258E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000072154]
[ENSMUST00000217998]
[ENSMUST00000219956]
|
| AlphaFold |
Q80TI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
AA Change: V1258E
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: V1258E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
26 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
PH
|
573 |
668 |
1.15e-22 |
SMART |
|
PH
|
682 |
792 |
3.23e-8 |
SMART |
|
MyTH4
|
826 |
980 |
3e-48 |
SMART |
|
B41
|
987 |
1224 |
6.07e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072154
|
| SMART Domains |
Protein: ENSMUSP00000072018
Gene: ENSMUSG00000021120
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
83 |
N/A |
INTRINSIC |
|
Pfam:PIG-H
|
89 |
158 |
6.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219956
AA Change: V1258E
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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 |
|---|
| Ablim1 |
C |
A |
19: 57,027,879 (GRCm39) |
R404L |
probably damaging |
Het |
| Acot6 |
C |
A |
12: 84,147,763 (GRCm39) |
S6R |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,301 (GRCm39) |
Q222L |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,450,976 (GRCm39) |
T725S |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,389 (GRCm39) |
K766N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,273 (GRCm39) |
S1387P |
probably damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,122 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,296 (GRCm39) |
I30V |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,916,178 (GRCm39) |
S150T |
possibly damaging |
Het |
| Cox4i2 |
T |
C |
2: 152,598,956 (GRCm39) |
Y38H |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,276,798 (GRCm39) |
Y867H |
possibly damaging |
Het |
| Dbh |
G |
A |
2: 27,055,556 (GRCm39) |
C10Y |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,106,178 (GRCm39) |
V332A |
probably damaging |
Het |
| Gnb3 |
G |
T |
6: 124,816,652 (GRCm39) |
A11E |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,814,935 (GRCm39) |
R2725G |
probably damaging |
Het |
| Kdm4c |
C |
T |
4: 74,255,164 (GRCm39) |
L573F |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,505,096 (GRCm39) |
Q3404L |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,791,909 (GRCm39) |
H231R |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,895,357 (GRCm39) |
D371V |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,623,440 (GRCm39) |
I705V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,623,753 (GRCm39) |
N150I |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,126 (GRCm39) |
I273T |
probably damaging |
Het |
| Or51aa5 |
A |
T |
7: 103,167,141 (GRCm39) |
I150N |
probably damaging |
Het |
| Phb2 |
A |
G |
6: 124,690,998 (GRCm39) |
Q52R |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,742,685 (GRCm39) |
N69K |
probably damaging |
Het |
| Rapsn |
T |
A |
2: 90,873,585 (GRCm39) |
M297K |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,808,588 (GRCm39) |
V195G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,517 (GRCm39) |
V68A |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,631 (GRCm39) |
R1301S |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,837,864 (GRCm39) |
Y1600C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,864 (GRCm39) |
I864T |
possibly damaging |
Het |
| Wif1 |
T |
A |
10: 120,919,890 (GRCm39) |
|
probably null |
Het |
| Zdhhc15 |
G |
A |
X: 103,609,422 (GRCm39) |
R208C |
probably damaging |
Het |
|
| Other mutations in Plekhh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01764:Plekhh1
|
APN |
12 |
79,101,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01922:Plekhh1
|
APN |
12 |
79,126,353 (GRCm39) |
missense |
probably benign |
|
|
IGL02187:Plekhh1
|
APN |
12 |
79,119,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Plekhh1
|
APN |
12 |
79,115,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02581:Plekhh1
|
APN |
12 |
79,125,882 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03201:Plekhh1
|
APN |
12 |
79,100,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0088:Plekhh1
|
UTSW |
12 |
79,102,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0626:Plekhh1
|
UTSW |
12 |
79,087,359 (GRCm39) |
nonsense |
probably null |
|
|
R0662:Plekhh1
|
UTSW |
12 |
79,125,767 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0666:Plekhh1
|
UTSW |
12 |
79,115,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0966:Plekhh1
|
UTSW |
12 |
79,112,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Plekhh1
|
UTSW |
12 |
79,101,256 (GRCm39) |
splice site |
probably benign |
|
|
R1507:Plekhh1
|
UTSW |
12 |
79,126,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Plekhh1
|
UTSW |
12 |
79,123,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1759:Plekhh1
|
UTSW |
12 |
79,119,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Plekhh1
|
UTSW |
12 |
79,125,731 (GRCm39) |
splice site |
probably benign |
|
|
R2125:Plekhh1
|
UTSW |
12 |
79,125,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2345:Plekhh1
|
UTSW |
12 |
79,100,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:Plekhh1
|
UTSW |
12 |
79,102,006 (GRCm39) |
missense |
probably benign |
|
|
R3927:Plekhh1
|
UTSW |
12 |
79,100,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4039:Plekhh1
|
UTSW |
12 |
79,101,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4720:Plekhh1
|
UTSW |
12 |
79,122,194 (GRCm39) |
frame shift |
probably null |
|
|
R4721:Plekhh1
|
UTSW |
12 |
79,122,194 (GRCm39) |
frame shift |
probably null |
|
|
R4824:Plekhh1
|
UTSW |
12 |
79,101,577 (GRCm39) |
missense |
probably benign |
|
|
R4869:Plekhh1
|
UTSW |
12 |
79,097,160 (GRCm39) |
missense |
probably benign |
|
|
R5114:Plekhh1
|
UTSW |
12 |
79,115,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5809:Plekhh1
|
UTSW |
12 |
79,125,461 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6540:Plekhh1
|
UTSW |
12 |
79,111,263 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6977:Plekhh1
|
UTSW |
12 |
79,112,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Plekhh1
|
UTSW |
12 |
79,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Plekhh1
|
UTSW |
12 |
79,113,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7120:Plekhh1
|
UTSW |
12 |
79,117,713 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7134:Plekhh1
|
UTSW |
12 |
79,109,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Plekhh1
|
UTSW |
12 |
79,097,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7403:Plekhh1
|
UTSW |
12 |
79,087,351 (GRCm39) |
nonsense |
probably null |
|
|
R7405:Plekhh1
|
UTSW |
12 |
79,101,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Plekhh1
|
UTSW |
12 |
79,126,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7594:Plekhh1
|
UTSW |
12 |
79,123,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7648:Plekhh1
|
UTSW |
12 |
79,101,905 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7756:Plekhh1
|
UTSW |
12 |
79,117,578 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7758:Plekhh1
|
UTSW |
12 |
79,117,578 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8033:Plekhh1
|
UTSW |
12 |
79,117,710 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8153:Plekhh1
|
UTSW |
12 |
79,125,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8243:Plekhh1
|
UTSW |
12 |
79,125,843 (GRCm39) |
missense |
probably benign |
|
|
R8728:Plekhh1
|
UTSW |
12 |
79,115,862 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8992:Plekhh1
|
UTSW |
12 |
79,122,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation