Incidental Mutation 'IGL01328:Plekha6'
| ID |
74402 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
splice site (56 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 133200074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
[ENSMUST00000212252]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038295
AA Change: K218*
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: K218*
| 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 |
probably null
Transcript: ENSMUST00000105082
AA Change: K238*
|
| SMART Domains |
Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: K238*
| 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 |
probably null
Transcript: ENSMUST00000186917
AA Change: K238*
|
| SMART Domains |
Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: K238*
| 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 |
probably null
Transcript: ENSMUST00000187285
AA Change: K218*
|
| SMART Domains |
Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: K218*
| 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 |
probably null
Transcript: ENSMUST00000190186
AA Change: K40*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212142
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
C |
T |
18: 59,181,954 (GRCm39) |
S1131F |
possibly damaging |
Het |
| Alg14 |
G |
A |
3: 121,155,232 (GRCm39) |
V151I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,206,019 (GRCm39) |
|
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,106,831 (GRCm39) |
C698S |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,354,637 (GRCm39) |
H247R |
probably damaging |
Het |
| Clec12b |
A |
T |
6: 129,356,517 (GRCm39) |
W216R |
probably damaging |
Het |
| Clnk |
C |
T |
5: 38,941,871 (GRCm39) |
S35N |
possibly damaging |
Het |
| Cnot4 |
T |
A |
6: 35,055,049 (GRCm39) |
N80I |
probably damaging |
Het |
| Cntn5 |
C |
T |
9: 9,781,773 (GRCm39) |
M635I |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,252,419 (GRCm39) |
V107A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,181,343 (GRCm39) |
F155I |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,006,739 (GRCm39) |
I254V |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,792,621 (GRCm39) |
D221E |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,820 (GRCm39) |
|
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,295,206 (GRCm39) |
L324F |
probably damaging |
Het |
| Fam83a |
A |
T |
15: 57,849,901 (GRCm39) |
R148S |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,729 (GRCm39) |
I236V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,034,807 (GRCm39) |
F2820I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,944,140 (GRCm39) |
V1011E |
probably damaging |
Het |
| Fgf7 |
A |
G |
2: 125,930,164 (GRCm39) |
E99G |
probably damaging |
Het |
| Fign |
T |
C |
2: 63,809,216 (GRCm39) |
T685A |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,925,855 (GRCm39) |
G289E |
probably damaging |
Het |
| Gata6 |
G |
T |
18: 11,064,530 (GRCm39) |
M477I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,673 (GRCm39) |
Y249C |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,807,904 (GRCm39) |
D1768G |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,697 (GRCm39) |
|
probably null |
Het |
| Irs2 |
C |
A |
8: 11,054,792 (GRCm39) |
Q1213H |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,132,264 (GRCm39) |
R210C |
probably damaging |
Het |
| Klk1b27 |
T |
C |
7: 43,705,303 (GRCm39) |
S157P |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,675,800 (GRCm39) |
S157G |
probably damaging |
Het |
| Mtmr2 |
G |
T |
9: 13,713,223 (GRCm39) |
G395* |
probably null |
Het |
| Mx1 |
T |
A |
16: 97,256,832 (GRCm39) |
I116F |
probably damaging |
Het |
| Oip5 |
A |
C |
2: 119,442,314 (GRCm39) |
M200R |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,925 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Or10g3 |
T |
C |
14: 52,609,967 (GRCm39) |
D181G |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,418 (GRCm39) |
K22E |
probably benign |
Het |
| Or4k39 |
A |
G |
2: 111,239,564 (GRCm39) |
Y268C |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,482 (GRCm39) |
S594T |
probably benign |
Het |
| Phf13 |
C |
T |
4: 152,080,285 (GRCm39) |
E13K |
probably benign |
Het |
| Rad17 |
A |
C |
13: 100,754,311 (GRCm39) |
N636K |
probably benign |
Het |
| Rad21 |
T |
A |
15: 51,836,520 (GRCm39) |
D217V |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,885,917 (GRCm39) |
D4G |
possibly damaging |
Het |
| Stc1 |
A |
G |
14: 69,275,726 (GRCm39) |
D173G |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,061,424 (GRCm39) |
Q559* |
probably null |
Het |
| Trim44 |
T |
A |
2: 102,230,365 (GRCm39) |
E222V |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,981,767 (GRCm39) |
E2343G |
possibly damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,288,365 (GRCm39) |
T379A |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,819 (GRCm39) |
T564A |
probably benign |
Het |
| Vsir |
C |
A |
10: 60,203,539 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,163 (GRCm39) |
|
probably null |
Het |
| Xrn2 |
T |
C |
2: 146,871,850 (GRCm39) |
V396A |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 75,000,382 (GRCm39) |
K208* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,309,344 (GRCm39) |
L857M |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,800,904 (GRCm39) |
D53G |
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 |
|
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 |
|
R6072: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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation