Incidental Mutation 'R8033:Plekhh1'
| ID |
618098 |
| 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 |
067470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8033 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79117710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 902
(R902H)
|
| 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: R902H
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: R902H
| 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: R902H
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,927,348 (GRCm39) |
I1335K |
probably damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,912,805 (GRCm39) |
E1277G |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,816,429 (GRCm39) |
T785A |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,981,074 (GRCm39) |
V786A |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,884,680 (GRCm39) |
I87T |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,274,390 (GRCm39) |
S373P |
probably damaging |
Het |
| Casd1 |
A |
T |
6: 4,619,773 (GRCm39) |
I173F |
probably benign |
Het |
| Chd2 |
A |
G |
7: 73,085,628 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,617 (GRCm39) |
E199G |
probably benign |
Het |
| Cpa4 |
G |
A |
6: 30,590,799 (GRCm39) |
V366I |
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,689,795 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,411,750 (GRCm39) |
I266T |
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,316,635 (GRCm39) |
D685G |
probably damaging |
Het |
| Dop1b |
C |
G |
16: 93,566,371 (GRCm39) |
R1051G |
probably benign |
Het |
| Fam114a2 |
A |
G |
11: 57,398,333 (GRCm39) |
S202P |
probably damaging |
Het |
| Fance |
G |
T |
17: 28,532,659 (GRCm39) |
|
probably benign |
Het |
| Farsa |
T |
A |
8: 85,594,198 (GRCm39) |
L316Q |
probably benign |
Het |
| Fcrl6 |
T |
C |
1: 172,426,748 (GRCm39) |
D66G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gh |
A |
T |
11: 106,191,381 (GRCm39) |
D154E |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,756,767 (GRCm39) |
V1160E |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,212,996 (GRCm39) |
T1886A |
probably benign |
Het |
| Lrwd1 |
G |
A |
5: 136,152,079 (GRCm39) |
L633F |
probably damaging |
Het |
| Mmp15 |
A |
T |
8: 96,094,590 (GRCm39) |
N155Y |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,321,329 (GRCm39) |
N143D |
probably benign |
Het |
| Mtf2 |
T |
G |
5: 108,234,951 (GRCm39) |
C125G |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,547,902 (GRCm39) |
D6130E |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,219 (GRCm39) |
I45N |
possibly damaging |
Het |
| Orc1 |
T |
A |
4: 108,462,761 (GRCm39) |
Y613N |
probably damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,590 (GRCm39) |
N227S |
probably benign |
Het |
| Pex3 |
G |
A |
10: 13,407,024 (GRCm39) |
Q306* |
probably null |
Het |
| Pld1 |
A |
T |
3: 28,083,359 (GRCm39) |
M160L |
probably benign |
Het |
| Prp2 |
A |
G |
6: 132,577,391 (GRCm39) |
H226R |
unknown |
Het |
| Rad21 |
T |
G |
15: 51,827,628 (GRCm39) |
T578P |
probably damaging |
Het |
| Sp140 |
G |
A |
1: 85,547,815 (GRCm39) |
V181I |
probably benign |
Het |
| Spen |
A |
G |
4: 141,199,057 (GRCm39) |
V3190A |
probably benign |
Het |
| Spg11 |
A |
C |
2: 121,917,432 (GRCm39) |
C1011W |
probably damaging |
Het |
| Syngr3 |
G |
A |
17: 24,905,579 (GRCm39) |
R132* |
probably null |
Het |
| Tbc1d10c |
A |
G |
19: 4,238,013 (GRCm39) |
F254L |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,141 (GRCm39) |
I176K |
probably damaging |
Het |
| Timm50 |
G |
A |
7: 28,006,258 (GRCm39) |
A281V |
possibly damaging |
Het |
| Tmem144 |
C |
T |
3: 79,732,624 (GRCm39) |
R218K |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,071 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,852,479 (GRCm39) |
V827A |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,994,635 (GRCm39) |
W161R |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,665 (GRCm39) |
I428N |
probably 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 |
|
R7758:Plekhh1
|
UTSW |
12 |
79,117,578 (GRCm39) |
missense |
probably benign |
0.15 |
|
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'- AGTCTTTCTTGAGGCGCTGC -3'
(R):5'- CAGTGGGTGAGCATGCACATATC -3'
Sequencing Primer
(F):5'- GTGCAGGTCACAAGAATAACC -3'
(R):5'- TGCACATATCAAACAGCTTGGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation