Incidental Mutation 'IGL03201:Plekhh1'
| ID |
412991 |
| 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 # |
IGL03201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79100430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 133
(W133R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000217954]
[ENSMUST00000219956]
|
| AlphaFold |
Q80TI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039928
AA Change: W133R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: W133R
| 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: ENSMUST00000217954
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219956
AA Change: W133R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
| Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
| C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
| Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
| Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
| Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
| Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
| Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
| Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
| Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
| Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
| Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
| Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
| Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
| Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
| Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
| Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
| Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
| Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
| Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
| Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
| Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
| Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
| Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
| Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
probably benign |
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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation