Incidental Mutation 'R6072:Plekha6'
| ID |
482524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha6
|
| Ensembl Gene |
ENSMUSG00000041757 |
| Gene Name |
pleckstrin homology domain containing, family A member 6 |
| Synonyms |
Pepp3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R6072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 133200045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 208
(R208P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038295
AA Change: R208P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: R208P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
160 |
2.23e-20 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
|
Blast:PH
|
506 |
576 |
6e-31 |
BLAST |
|
coiled coil region
|
613 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
1139 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105082
AA Change: R228P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: R228P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
180 |
1.24e-18 |
SMART |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
|
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186917
AA Change: R228P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: R228P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
180 |
1.24e-18 |
SMART |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
387 |
N/A |
INTRINSIC |
|
coiled coil region
|
559 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
1035 |
1049 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187285
AA Change: R208P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: R208P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
60 |
160 |
9.6e-23 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
367 |
N/A |
INTRINSIC |
|
coiled coil region
|
539 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1028 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000190186
AA Change: R30P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212142
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,987,481 (GRCm39) |
C1256S |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 80,784,914 (GRCm39) |
S291P |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,643,533 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
T |
A |
11: 120,792,901 (GRCm39) |
K284N |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,602,402 (GRCm39) |
D336E |
probably benign |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,389,750 (GRCm39) |
S558N |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,614 (GRCm39) |
Q221L |
probably damaging |
Het |
| Gm10146 |
A |
G |
10: 78,229,332 (GRCm39) |
|
noncoding transcript |
Het |
| Gys2 |
T |
G |
6: 142,374,263 (GRCm39) |
D594A |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,843,284 (GRCm39) |
E114G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,248,609 (GRCm39) |
K1082T |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,992 (GRCm39) |
G97D |
unknown |
Het |
| Lmo7 |
A |
T |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
A |
T |
15: 99,324,535 (GRCm39) |
L656Q |
probably damaging |
Het |
| Ndufs8 |
T |
C |
19: 3,959,275 (GRCm39) |
T129A |
probably damaging |
Het |
| Nosip |
G |
A |
7: 44,726,072 (GRCm39) |
V187M |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,606 (GRCm39) |
Y132N |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,786,718 (GRCm39) |
V29I |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,869,769 (GRCm39) |
N426K |
probably benign |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,353 (GRCm39) |
S151P |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,503,539 (GRCm39) |
S1164P |
probably damaging |
Het |
| Rcan1 |
T |
C |
16: 92,262,815 (GRCm39) |
D51G |
probably benign |
Het |
| Rem1 |
A |
G |
2: 152,476,437 (GRCm39) |
T232A |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,738,052 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,357 (GRCm39) |
K491E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,561,943 (GRCm39) |
D158E |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,611,417 (GRCm39) |
N1510S |
probably damaging |
Het |
| Taf1d |
T |
C |
9: 15,222,856 (GRCm39) |
S241P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,499,434 (GRCm39) |
D1921G |
possibly damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,445 (GRCm39) |
M99K |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,582,758 (GRCm39) |
E130G |
possibly damaging |
Het |
| Tyw1 |
T |
C |
5: 130,296,752 (GRCm39) |
V123A |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
probably damaging |
Het |
| Zfp683 |
T |
C |
4: 133,783,057 (GRCm39) |
Y174H |
probably benign |
Het |
|
| Other mutations in Plekha6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Plekha6
|
APN |
1 |
133,209,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01328:Plekha6
|
APN |
1 |
133,200,074 (GRCm39) |
splice site |
probably null |
|
|
IGL01739:Plekha6
|
APN |
1 |
133,187,869 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01803:Plekha6
|
APN |
1 |
133,200,152 (GRCm39) |
nonsense |
probably null |
|
|
IGL02053:Plekha6
|
APN |
1 |
133,200,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Plekha6
|
APN |
1 |
133,215,587 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02276:Plekha6
|
APN |
1 |
133,221,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02478:Plekha6
|
APN |
1 |
133,211,031 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02754:Plekha6
|
APN |
1 |
133,212,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
G1Funyon:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0100:Plekha6
|
UTSW |
1 |
133,197,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0334:Plekha6
|
UTSW |
1 |
133,209,918 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0470:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1016:Plekha6
|
UTSW |
1 |
133,187,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1254:Plekha6
|
UTSW |
1 |
133,200,327 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1728:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1729:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1730:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1739:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1762:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1771:Plekha6
|
UTSW |
1 |
133,201,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1784:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1785:Plekha6
|
UTSW |
1 |
133,215,584 (GRCm39) |
missense |
probably benign |
|
|
R1786:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
|
R1997:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2020:Plekha6
|
UTSW |
1 |
133,212,708 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2130:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
|
R2131:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
|
R2133:Plekha6
|
UTSW |
1 |
133,207,103 (GRCm39) |
splice site |
probably null |
|
|
R2992:Plekha6
|
UTSW |
1 |
133,222,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3781:Plekha6
|
UTSW |
1 |
133,222,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3810:Plekha6
|
UTSW |
1 |
133,201,717 (GRCm39) |
missense |
probably benign |
|
|
R4067:Plekha6
|
UTSW |
1 |
133,222,416 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4725:Plekha6
|
UTSW |
1 |
133,211,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5657:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5658:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5746:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5768:Plekha6
|
UTSW |
1 |
133,208,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5785:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5892:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5937:Plekha6
|
UTSW |
1 |
133,187,839 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5985:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5986:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6053:Plekha6
|
UTSW |
1 |
133,200,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6167:Plekha6
|
UTSW |
1 |
133,207,145 (GRCm39) |
missense |
probably null |
0.96 |
|
R6843:Plekha6
|
UTSW |
1 |
133,202,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Plekha6
|
UTSW |
1 |
133,187,793 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6912:Plekha6
|
UTSW |
1 |
133,200,273 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6970:Plekha6
|
UTSW |
1 |
133,191,556 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7041:Plekha6
|
UTSW |
1 |
133,200,198 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7248:Plekha6
|
UTSW |
1 |
133,203,586 (GRCm39) |
nonsense |
probably null |
|
|
R7400:Plekha6
|
UTSW |
1 |
133,201,762 (GRCm39) |
nonsense |
probably null |
|
|
R7720:Plekha6
|
UTSW |
1 |
133,221,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Plekha6
|
UTSW |
1 |
133,097,760 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8011:Plekha6
|
UTSW |
1 |
133,191,544 (GRCm39) |
missense |
probably benign |
|
|
R8301:Plekha6
|
UTSW |
1 |
133,192,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8387:Plekha6
|
UTSW |
1 |
133,219,893 (GRCm39) |
splice site |
probably null |
|
|
R8465:Plekha6
|
UTSW |
1 |
133,197,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8501:Plekha6
|
UTSW |
1 |
133,215,575 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9025:Plekha6
|
UTSW |
1 |
133,212,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9044:Plekha6
|
UTSW |
1 |
133,201,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9044:Plekha6
|
UTSW |
1 |
133,201,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9165:Plekha6
|
UTSW |
1 |
133,200,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Plekha6
|
UTSW |
1 |
133,214,085 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9186:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Plekha6
|
UTSW |
1 |
133,220,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9321:Plekha6
|
UTSW |
1 |
133,209,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Plekha6
|
UTSW |
1 |
133,200,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Plekha6
|
UTSW |
1 |
133,191,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCCAGTTACATCACTG -3'
(R):5'- AGCTATACTGCCAGCCATTG -3'
Sequencing Primer
(F):5'- AGTTACATCACTGCCTCTCTG -3'
(R):5'- CCATTGGGCTGAGCAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation