Incidental Mutation 'R7758:Plekhh1'
ID |
597690 |
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 |
045814-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7758 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79117578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 858
(I858T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000219956]
|
AlphaFold |
Q80TI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
AA Change: I858T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000049460 Gene: ENSMUSG00000060716 AA Change: I858T
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 |
probably benign
Transcript: ENSMUST00000219956
AA Change: I858T
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.5531 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,921,816 (GRCm39) |
D1124G |
probably damaging |
Het |
Actr10 |
A |
G |
12: 70,989,100 (GRCm39) |
H73R |
probably damaging |
Het |
Ak9 |
G |
T |
10: 41,223,128 (GRCm39) |
A424S |
|
Het |
Alkbh5 |
G |
A |
11: 60,429,903 (GRCm39) |
V219M |
probably damaging |
Het |
Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
Bfar |
T |
C |
16: 13,519,985 (GRCm39) |
F406S |
possibly damaging |
Het |
Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
Colec11 |
A |
C |
12: 28,645,241 (GRCm39) |
|
probably null |
Het |
Crh |
T |
A |
3: 19,748,453 (GRCm39) |
Y63F |
probably damaging |
Het |
Dmbt1 |
C |
T |
7: 130,722,926 (GRCm39) |
H1946Y |
unknown |
Het |
Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
Fstl4 |
C |
A |
11: 53,059,123 (GRCm39) |
D527E |
possibly damaging |
Het |
Gm17019 |
A |
G |
5: 15,079,300 (GRCm39) |
*256Q |
probably null |
Het |
Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
H3c13 |
A |
G |
3: 96,176,203 (GRCm39) |
K65R |
possibly damaging |
Het |
Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
Klhl35 |
C |
T |
7: 99,122,425 (GRCm39) |
T87I |
unknown |
Het |
Kmt2e |
A |
G |
5: 23,701,068 (GRCm39) |
T761A |
possibly damaging |
Het |
Lca5l |
C |
T |
16: 95,980,037 (GRCm39) |
R36H |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
Or4c120 |
T |
A |
2: 89,001,485 (GRCm39) |
I24L |
probably benign |
Het |
Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
Prss43 |
G |
A |
9: 110,658,459 (GRCm39) |
G253E |
possibly damaging |
Het |
Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,805,251 (GRCm39) |
|
probably null |
Het |
Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
Sphk1 |
A |
G |
11: 116,427,063 (GRCm39) |
R340G |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
Taok3 |
A |
G |
5: 117,388,972 (GRCm39) |
E459G |
probably damaging |
Het |
Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
Unc13b |
AGCCAG |
AGCCAGCGCCAG |
4: 43,177,344 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,658,989 (GRCm39) |
T68A |
not run |
Het |
Wdr59 |
T |
A |
8: 112,207,117 (GRCm39) |
I534F |
|
Het |
Ylpm1 |
A |
G |
12: 85,061,796 (GRCm39) |
I566V |
unknown |
Het |
Zbtb4 |
A |
G |
11: 69,669,368 (GRCm39) |
E697G |
probably benign |
Het |
Zcchc14 |
T |
C |
8: 122,331,428 (GRCm39) |
K645R |
unknown |
Het |
Zfp704 |
C |
T |
3: 9,509,282 (GRCm39) |
V388M |
possibly damaging |
Het |
Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
possibly 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 |
R6540:Plekhh1
|
UTSW |
12 |
79,111,263 (GRCm39) |
missense |
probably benign |
0.14 |
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 |
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'- ACATTTAAAGGTGTAATTCTGCCCC -3'
(R):5'- ACAGCTCTTACAAGTGGTCC -3'
Sequencing Primer
(F):5'- GGTGTAATTCTGCCCCTAAAGTAGC -3'
(R):5'- TCTTACAAGTGGTCCCCGCG -3'
|
Posted On |
2019-11-26 |