Incidental Mutation 'R8243:Plekhh1'
| ID |
637668 |
| 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 |
067648-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79125843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1293
(R1293H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000072154]
|
| AlphaFold |
Q80TI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
AA Change: R1293H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: R1293H
| 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: ENSMUST00000072154
|
| SMART Domains |
Protein: ENSMUSP00000072018
Gene: ENSMUSG00000021120
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
83 |
N/A |
INTRINSIC |
|
Pfam:PIG-H
|
89 |
158 |
6.7e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,015,909 (GRCm39) |
H356Q |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl6 |
C |
T |
16: 23,786,883 (GRCm39) |
C636Y |
probably damaging |
Het |
| Cabyr |
G |
T |
18: 12,883,759 (GRCm39) |
C82F |
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,901,778 (GRCm39) |
V70A |
possibly damaging |
Het |
| Col11a1 |
C |
T |
3: 113,855,141 (GRCm39) |
P134S |
unknown |
Het |
| Col27a1 |
A |
G |
4: 63,144,120 (GRCm39) |
T603A |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,468 (GRCm39) |
D1964G |
probably damaging |
Het |
| Dnajc8 |
A |
G |
4: 132,278,775 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,358,360 (GRCm39) |
Y318H |
|
Het |
| Efemp1 |
T |
A |
11: 28,871,690 (GRCm39) |
S402T |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,097,411 (GRCm39) |
V110A |
possibly damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,004 (GRCm39) |
L746F |
possibly damaging |
Het |
| Gna13 |
A |
G |
11: 109,287,239 (GRCm39) |
N354S |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,918,348 (GRCm39) |
S855R |
possibly damaging |
Het |
| Hps5 |
G |
T |
7: 46,436,066 (GRCm39) |
A160E |
probably damaging |
Het |
| Igfbp7 |
T |
A |
5: 77,549,339 (GRCm39) |
E188V |
probably benign |
Het |
| Ivd |
A |
G |
2: 118,702,018 (GRCm39) |
Y150C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,708,045 (GRCm39) |
T723A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,288,724 (GRCm39) |
N1239S |
probably benign |
Het |
| Klb |
A |
G |
5: 65,536,338 (GRCm39) |
N556S |
possibly damaging |
Het |
| Klhdc8a |
C |
T |
1: 132,230,304 (GRCm39) |
R140C |
possibly damaging |
Het |
| Klhl2 |
T |
A |
8: 65,202,084 (GRCm39) |
M531L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,613,956 (GRCm39) |
S546R |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Musk |
G |
A |
4: 58,293,600 (GRCm39) |
R63K |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,552,643 (GRCm39) |
E183K |
probably damaging |
Het |
| Oasl1 |
T |
C |
5: 115,066,220 (GRCm39) |
Y113H |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,484 (GRCm39) |
C254S |
probably benign |
Het |
| Or1x2 |
C |
T |
11: 50,918,138 (GRCm39) |
T103M |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,844,051 (GRCm39) |
Y119F |
probably benign |
Het |
| Or51ab3 |
A |
T |
7: 103,201,205 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8b56 |
A |
G |
9: 38,739,803 (GRCm39) |
E272G |
|
Het |
| P4hb |
T |
C |
11: 120,454,206 (GRCm39) |
D296G |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,179 (GRCm39) |
D776G |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,703,621 (GRCm39) |
C101R |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,316,384 (GRCm39) |
D152G |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,079,916 (GRCm39) |
T737A |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,687 (GRCm39) |
T496A |
probably damaging |
Het |
| Supt7l |
T |
C |
5: 31,673,013 (GRCm39) |
I412V |
probably benign |
Het |
| Trim38 |
T |
A |
13: 23,975,378 (GRCm39) |
I439N |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
G |
A |
6: 121,246,103 (GRCm39) |
R353H |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,849 (GRCm39) |
K1058R |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,796,937 (GRCm39) |
D598G |
probably benign |
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 |
|
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 |
|
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'- AGCAGTGCTGTCTTATAGTCTG -3'
(R):5'- AGTTCCAGCTCAGTGGAGAG -3'
Sequencing Primer
(F):5'- AACTTACATCATCACCTTGGGG -3'
(R):5'- AGAGATGGACGTGCTGTTCCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation