Incidental Mutation 'IGL01922:Plekhh1'
| ID |
180132 |
| 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 # |
IGL01922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79126353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1353
(S1353P)
|
| 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: S1353P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: S1353P
| 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: S1353P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
A |
7: 133,539,201 (GRCm39) |
G104* |
probably null |
Het |
| Adamtsl1 |
A |
G |
4: 86,168,139 (GRCm39) |
K477R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,298,180 (GRCm39) |
V295G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,629,629 (GRCm39) |
I1234N |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,114 (GRCm39) |
E997G |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,893,846 (GRCm39) |
N601S |
probably benign |
Het |
| Col28a1 |
G |
T |
6: 8,158,133 (GRCm39) |
D308E |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,300,305 (GRCm39) |
K3204R |
unknown |
Het |
| Cspg4 |
G |
A |
9: 56,795,171 (GRCm39) |
D969N |
probably damaging |
Het |
| Dhx8 |
G |
A |
11: 101,630,633 (GRCm39) |
V347I |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,965,860 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,810,506 (GRCm39) |
Y282H |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| H2-T3 |
A |
G |
17: 36,497,992 (GRCm39) |
M307T |
possibly damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,288 (GRCm39) |
I48V |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,101,292 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
T |
C |
2: 127,621,989 (GRCm39) |
Y46C |
possibly damaging |
Het |
| Odad3 |
G |
T |
9: 21,904,826 (GRCm39) |
|
probably benign |
Het |
| Or14j7 |
A |
T |
17: 38,234,850 (GRCm39) |
H131L |
possibly damaging |
Het |
| Or2t46 |
G |
A |
11: 58,471,899 (GRCm39) |
M76I |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,431 (GRCm39) |
S1066R |
probably benign |
Het |
| Prl6a1 |
A |
T |
13: 27,499,343 (GRCm39) |
D37V |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,229,978 (GRCm39) |
|
probably null |
Het |
| Selenoo |
T |
C |
15: 88,983,852 (GRCm39) |
V585A |
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,153,891 (GRCm39) |
T61A |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,469,030 (GRCm39) |
T340A |
probably damaging |
Het |
| Unc50 |
A |
G |
1: 37,476,284 (GRCm39) |
D148G |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpc |
C |
T |
6: 91,482,407 (GRCm39) |
R192H |
probably damaging |
Het |
|
| Other mutations in Plekhh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Plekhh1
|
APN |
12 |
79,125,738 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01764:Plekhh1
|
APN |
12 |
79,101,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation