Incidental Mutation 'R6755:Plekhh2'
| ID |
531042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhh2
|
| Ensembl Gene |
ENSMUSG00000040852 |
| Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 |
| Synonyms |
|
| MMRRC Submission |
044871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84899013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 997
(Y997H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
| AlphaFold |
Q8C115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: Y997H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039628
Gene: ENSMUSG00000040852
AA Change: Y997H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
|
PH
|
703 |
798 |
4.7e-19 |
SMART |
|
PH
|
811 |
920 |
1.15e-4 |
SMART |
|
MyTH4
|
954 |
1109 |
8.49e-39 |
SMART |
|
B41
|
1116 |
1353 |
1.01e-27 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,475,994 (GRCm39) |
T1101M |
probably benign |
Het |
| 4930433I11Rik |
T |
C |
7: 40,643,734 (GRCm39) |
S468P |
probably damaging |
Het |
| Adam33 |
A |
G |
2: 130,895,069 (GRCm39) |
V637A |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,124,004 (GRCm39) |
V1228M |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,893,812 (GRCm39) |
V848F |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| B4galt6 |
T |
C |
18: 20,822,386 (GRCm39) |
E264G |
probably benign |
Het |
| Bpifb4 |
A |
G |
2: 153,799,658 (GRCm39) |
T556A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,938,082 (GRCm39) |
S64T |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,826,817 (GRCm39) |
S467P |
probably benign |
Het |
| Cables1 |
G |
T |
18: 12,072,882 (GRCm39) |
S479I |
probably null |
Het |
| Cbl |
T |
C |
9: 44,084,671 (GRCm39) |
I155V |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,880 (GRCm39) |
D297G |
probably damaging |
Het |
| Cdk8 |
T |
A |
5: 146,205,126 (GRCm39) |
H102Q |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,149 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,849,609 (GRCm39) |
H109Q |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,490 (GRCm39) |
E299G |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,893 (GRCm39) |
E150G |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbn2 |
A |
G |
18: 58,246,405 (GRCm39) |
L499S |
possibly damaging |
Het |
| Fgf10 |
C |
A |
13: 118,925,821 (GRCm39) |
A200D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,691,915 (GRCm39) |
E407G |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,556,891 (GRCm39) |
V232A |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,342 (GRCm39) |
K1214* |
probably null |
Het |
| Il20ra |
T |
C |
10: 19,626,542 (GRCm39) |
Y189H |
probably benign |
Het |
| Isg20l2 |
T |
A |
3: 87,838,996 (GRCm39) |
I69N |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,398,199 (GRCm39) |
D675G |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,693,786 (GRCm39) |
D387V |
possibly damaging |
Het |
| Lrrc4 |
T |
C |
6: 28,831,292 (GRCm39) |
N108D |
probably damaging |
Het |
| Ltbp2 |
T |
A |
12: 84,841,847 (GRCm39) |
E944V |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 93,685,158 (GRCm39) |
S740N |
probably damaging |
Het |
| Med26 |
A |
G |
8: 73,249,677 (GRCm39) |
I474T |
probably damaging |
Het |
| Mgst1 |
T |
A |
6: 138,124,770 (GRCm39) |
M68K |
probably damaging |
Het |
| Myh7 |
G |
A |
14: 55,229,770 (GRCm39) |
A91V |
possibly damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,580,216 (GRCm39) |
V450I |
probably benign |
Het |
| Nup160 |
T |
G |
2: 90,530,800 (GRCm39) |
F486C |
probably damaging |
Het |
| Nup50l |
T |
C |
6: 96,141,953 (GRCm39) |
T364A |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,152 (GRCm39) |
Y1602N |
probably damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,389,707 (GRCm39) |
T247S |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,142 (GRCm39) |
M33I |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,689,164 (GRCm39) |
Y955* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Pianp |
T |
C |
6: 124,976,347 (GRCm39) |
V52A |
probably benign |
Het |
| Plekhm1 |
G |
T |
11: 103,278,069 (GRCm39) |
S342R |
possibly damaging |
Het |
| Poglut2 |
C |
T |
1: 44,149,894 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
A |
12: 103,551,996 (GRCm39) |
V81E |
probably damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,529,268 (GRCm39) |
T13A |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,657 (GRCm39) |
T16A |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,218,855 (GRCm39) |
L445Q |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,374,717 (GRCm39) |
F751L |
possibly damaging |
Het |
| Sap18 |
A |
C |
14: 58,039,474 (GRCm39) |
D153A |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,194,235 (GRCm39) |
G10D |
probably benign |
Het |
| Snx32 |
T |
C |
19: 5,560,372 (GRCm39) |
N10D |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,261,677 (GRCm39) |
T180A |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,301,192 (GRCm39) |
K78R |
probably damaging |
Het |
| Syce3 |
T |
C |
15: 89,281,567 (GRCm39) |
D24G |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,344,732 (GRCm39) |
I153N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,445,991 (GRCm39) |
Q308R |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,511,471 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
C |
15: 99,300,034 (GRCm39) |
V50A |
probably benign |
Het |
| Tmem107 |
T |
C |
11: 68,961,837 (GRCm39) |
V22A |
probably damaging |
Het |
| Ttc12 |
T |
C |
9: 49,364,646 (GRCm39) |
I377V |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,262,316 (GRCm39) |
N310I |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,175,416 (GRCm39) |
N1171K |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,574,831 (GRCm39) |
V1032E |
probably benign |
Het |
|
| Other mutations in Plekhh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Plekhh2
|
APN |
17 |
84,829,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00514:Plekhh2
|
APN |
17 |
84,903,734 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00773:Plekhh2
|
APN |
17 |
84,914,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00985:Plekhh2
|
APN |
17 |
84,871,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01116:Plekhh2
|
APN |
17 |
84,914,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01394:Plekhh2
|
APN |
17 |
84,864,858 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01419:Plekhh2
|
APN |
17 |
84,890,980 (GRCm39) |
splice site |
probably benign |
|
|
IGL01932:Plekhh2
|
APN |
17 |
84,884,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02097:Plekhh2
|
APN |
17 |
84,906,608 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02157:Plekhh2
|
APN |
17 |
84,874,370 (GRCm39) |
splice site |
probably benign |
|
|
IGL02163:Plekhh2
|
APN |
17 |
84,898,223 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02237:Plekhh2
|
APN |
17 |
84,883,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02322:Plekhh2
|
APN |
17 |
84,896,894 (GRCm39) |
nonsense |
probably null |
|
|
IGL02422:Plekhh2
|
APN |
17 |
84,871,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02483:Plekhh2
|
APN |
17 |
84,903,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02493:Plekhh2
|
APN |
17 |
84,914,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03007:Plekhh2
|
APN |
17 |
84,882,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0003:Plekhh2
|
UTSW |
17 |
84,864,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Plekhh2
|
UTSW |
17 |
84,893,861 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0099:Plekhh2
|
UTSW |
17 |
84,899,100 (GRCm39) |
nonsense |
probably null |
|
|
R0331:Plekhh2
|
UTSW |
17 |
84,893,794 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0883:Plekhh2
|
UTSW |
17 |
84,925,459 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1051:Plekhh2
|
UTSW |
17 |
84,829,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1084:Plekhh2
|
UTSW |
17 |
84,878,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1351:Plekhh2
|
UTSW |
17 |
84,884,574 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Plekhh2
|
UTSW |
17 |
84,918,203 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1510:Plekhh2
|
UTSW |
17 |
84,867,004 (GRCm39) |
splice site |
probably null |
|
|
R1699:Plekhh2
|
UTSW |
17 |
84,884,612 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Plekhh2
|
UTSW |
17 |
84,874,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1773:Plekhh2
|
UTSW |
17 |
84,906,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1796:Plekhh2
|
UTSW |
17 |
84,906,561 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1823:Plekhh2
|
UTSW |
17 |
84,882,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Plekhh2
|
UTSW |
17 |
84,914,305 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2437:Plekhh2
|
UTSW |
17 |
84,893,907 (GRCm39) |
splice site |
probably null |
|
|
R2847:Plekhh2
|
UTSW |
17 |
84,905,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4227:Plekhh2
|
UTSW |
17 |
84,874,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4249:Plekhh2
|
UTSW |
17 |
84,893,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4347:Plekhh2
|
UTSW |
17 |
84,927,130 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4562:Plekhh2
|
UTSW |
17 |
84,873,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4649:Plekhh2
|
UTSW |
17 |
84,882,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Plekhh2
|
UTSW |
17 |
84,871,387 (GRCm39) |
missense |
probably benign |
|
|
R4743:Plekhh2
|
UTSW |
17 |
84,878,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Plekhh2
|
UTSW |
17 |
84,908,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5260:Plekhh2
|
UTSW |
17 |
84,884,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Plekhh2
|
UTSW |
17 |
84,864,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5409:Plekhh2
|
UTSW |
17 |
84,893,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5510:Plekhh2
|
UTSW |
17 |
84,874,275 (GRCm39) |
missense |
probably benign |
|
|
R5557:Plekhh2
|
UTSW |
17 |
84,867,580 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5684:Plekhh2
|
UTSW |
17 |
84,905,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5685:Plekhh2
|
UTSW |
17 |
84,877,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Plekhh2
|
UTSW |
17 |
84,874,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5742:Plekhh2
|
UTSW |
17 |
84,905,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5817:Plekhh2
|
UTSW |
17 |
84,879,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6218:Plekhh2
|
UTSW |
17 |
84,898,992 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6334:Plekhh2
|
UTSW |
17 |
84,874,294 (GRCm39) |
missense |
probably benign |
|
|
R6345:Plekhh2
|
UTSW |
17 |
84,883,215 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6617:Plekhh2
|
UTSW |
17 |
84,873,715 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6864:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7171:Plekhh2
|
UTSW |
17 |
84,829,216 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7413:Plekhh2
|
UTSW |
17 |
84,873,724 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7585:Plekhh2
|
UTSW |
17 |
84,884,608 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7640:Plekhh2
|
UTSW |
17 |
84,918,204 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7733:Plekhh2
|
UTSW |
17 |
84,890,952 (GRCm39) |
nonsense |
probably null |
|
|
R7877:Plekhh2
|
UTSW |
17 |
84,882,434 (GRCm39) |
missense |
probably benign |
|
|
R8085:Plekhh2
|
UTSW |
17 |
84,905,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8206:Plekhh2
|
UTSW |
17 |
84,898,277 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8296:Plekhh2
|
UTSW |
17 |
84,908,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8344:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8438:Plekhh2
|
UTSW |
17 |
84,877,379 (GRCm39) |
missense |
probably benign |
|
|
R8487:Plekhh2
|
UTSW |
17 |
84,864,909 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8708:Plekhh2
|
UTSW |
17 |
84,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8830:Plekhh2
|
UTSW |
17 |
84,829,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Plekhh2
|
UTSW |
17 |
84,878,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Plekhh2
|
UTSW |
17 |
84,906,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9047:Plekhh2
|
UTSW |
17 |
84,898,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9404:Plekhh2
|
UTSW |
17 |
84,878,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9428:Plekhh2
|
UTSW |
17 |
84,873,841 (GRCm39) |
missense |
probably benign |
|
|
R9516:Plekhh2
|
UTSW |
17 |
84,918,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9559:Plekhh2
|
UTSW |
17 |
84,899,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Plekhh2
|
UTSW |
17 |
84,854,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9641:Plekhh2
|
UTSW |
17 |
84,874,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9788:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGCTGTCATTAGAGATCACAG -3'
(R):5'- CGCGCTGCTTGTATTCTCAG -3'
Sequencing Primer
(F):5'- GCAAAAATCCTTTGGCTCTGAGGTC -3'
(R):5'- TCTCAGACGTCATATGCATCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation