Incidental Mutation 'R6540:Plekhh1'
| ID |
520710 |
| 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 |
044666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79111263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 542
(I542V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000219956]
|
| AlphaFold |
Q80TI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
AA Change: I542V
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: I542V
| 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 |
noncoding transcript
Transcript: ENSMUST00000219946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219956
AA Change: I542V
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
| Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
| Cep95 |
T |
A |
11: 106,692,328 (GRCm39) |
D169E |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
| Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
| Fbxl19 |
G |
T |
7: 127,347,525 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
| Foxj2 |
A |
G |
6: 122,810,202 (GRCm39) |
H187R |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
| Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
| Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
| Lin28a |
C |
T |
4: 133,745,372 (GRCm39) |
V74M |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
| Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
| Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
| Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
| Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
A |
T |
16: 97,637,005 (GRCm39) |
V104E |
probably benign |
Het |
| Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
| Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
| Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
| Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
| Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
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 |
|
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 |
|
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'- ACCAGTTTCACCCTCAGCTG -3'
(R):5'- ACAGCTGTGTCTGTAACCCC -3'
Sequencing Primer
(F):5'- AGTTTCACCCTCAGCTGCAGAC -3'
(R):5'- TGTGTCTGTAACCCCGCTAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation