Incidental Mutation 'R5768:Plekha6'
| ID |
446362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha6
|
| Ensembl Gene |
ENSMUSG00000041757 |
| Gene Name |
pleckstrin homology domain containing, family A member 6 |
| Synonyms |
Pepp3 |
| MMRRC Submission |
043368-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R5768 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133091948-133231173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133208116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 596
(T596A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038295]
[ENSMUST00000105082]
[ENSMUST00000186917]
[ENSMUST00000187285]
|
| AlphaFold |
Q7TQG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038295
AA Change: T596A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: T596A
| 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 benign
Transcript: ENSMUST00000105082
AA Change: T542A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: T542A
| 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 benign
Transcript: ENSMUST00000186917
AA Change: T542A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: T542A
| 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 benign
Transcript: ENSMUST00000187285
AA Change: T522A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: T522A
| 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 |
unknown
Transcript: ENSMUST00000187299
AA Change: T103A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189598
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000190186
AA Change: T373A
|
| Meta Mutation Damage Score |
0.0734 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
| Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
| BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
| Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,096,685 (GRCm39) |
T591K |
possibly damaging |
Het |
| Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,492,242 (GRCm39) |
V195M |
probably damaging |
Het |
| Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,055,826 (GRCm39) |
P393T |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
| Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
| Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
| Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
| Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
| Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
| Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
| Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
| Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
| Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,509 (GRCm39) |
R99Q |
probably benign |
Het |
| Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,295,757 (GRCm39) |
D368E |
probably benign |
Het |
| Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
| Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
| Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
| Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGAACTCTAAACTTCGCTG -3'
(R):5'- TCCTGATGAGAGGAGGTGAGTC -3'
Sequencing Primer
(F):5'- TGAACTCTAAACTTCGCTGTCACAG -3'
(R):5'- TGAGTCAAATGAATGAAACGCCAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation