Incidental Mutation 'R1027:Plekhh1'
ID |
96888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhh1
|
Ensembl Gene |
ENSMUSG00000060716 |
Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 |
Synonyms |
D630024D12Rik |
MMRRC Submission |
039129-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 79101256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000217954]
[ENSMUST00000219956]
|
AlphaFold |
Q80TI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
|
SMART Domains |
Protein: ENSMUSP00000049460 Gene: ENSMUSG00000060716
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 benign
Transcript: ENSMUST00000219956
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
Validation Efficiency |
94% (31/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
G |
T |
17: 33,762,737 (GRCm39) |
R572L |
probably benign |
Het |
Adamts16 |
A |
T |
13: 70,915,921 (GRCm39) |
V838E |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,467,123 (GRCm39) |
R2026G |
probably benign |
Het |
Arl16 |
G |
A |
11: 120,356,522 (GRCm39) |
A159V |
probably benign |
Het |
Astn1 |
G |
T |
1: 158,407,849 (GRCm39) |
R602L |
probably damaging |
Het |
Dennd1b |
T |
C |
1: 138,969,700 (GRCm39) |
V72A |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,390,051 (GRCm39) |
E213G |
probably benign |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gm4076 |
T |
C |
13: 85,275,508 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
C |
9: 66,363,250 (GRCm39) |
V2691A |
probably benign |
Het |
Hid1 |
A |
C |
11: 115,246,251 (GRCm39) |
F340V |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kif16b |
T |
C |
2: 142,696,458 (GRCm39) |
|
probably benign |
Het |
Map9 |
A |
T |
3: 82,284,401 (GRCm39) |
D325V |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,624,456 (GRCm39) |
M2079V |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,801,348 (GRCm39) |
S608P |
probably damaging |
Het |
Or5p62 |
A |
T |
7: 107,771,348 (GRCm39) |
V201D |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,746,482 (GRCm39) |
|
probably benign |
Het |
Pigs |
T |
C |
11: 78,227,651 (GRCm39) |
S272P |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,468,576 (GRCm39) |
D129G |
possibly damaging |
Het |
Rab33b |
T |
C |
3: 51,391,876 (GRCm39) |
S42P |
probably damaging |
Het |
Rnf214 |
C |
T |
9: 45,811,187 (GRCm39) |
V159I |
probably benign |
Het |
Sel1l3 |
A |
T |
5: 53,302,820 (GRCm39) |
M683K |
possibly damaging |
Het |
Sntb2 |
A |
G |
8: 107,718,203 (GRCm39) |
K304E |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,094,084 (GRCm39) |
S1518I |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,544,258 (GRCm39) |
S76P |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,697,777 (GRCm39) |
|
probably benign |
Het |
Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGGGTTGTGAAATGATACCGC -3'
(R):5'- AGGATGGACCATGCTGAAACGC -3'
Sequencing Primer
(F):5'- GTTGTGAAATGATACCGCATACG -3'
(R):5'- GCCACCTTCAAAATCTGGGTATG -3'
|
Posted On |
2014-01-05 |