Incidental Mutation 'R6952:Plekhh3'
| ID |
543294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhh3
|
| Ensembl Gene |
ENSMUSG00000035172 |
| Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 |
| Synonyms |
|
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101053505-101062177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101056482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 371
(E371G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043397]
[ENSMUST00000043654]
[ENSMUST00000123864]
[ENSMUST00000129895]
[ENSMUST00000164474]
|
| AlphaFold |
Q8VCE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043397
AA Change: E371G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: E371G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
285 |
398 |
4.2e-21 |
PFAM |
|
B41
|
400 |
664 |
2.91e-4 |
SMART |
|
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043654
|
| SMART Domains |
Protein: ENSMUSP00000045901
Gene: ENSMUSG00000045007
| Domain | Start | End | E-Value | Type |
|---|
|
Tubulin
|
48 |
247 |
1.11e-58 |
SMART |
|
Tubulin_C
|
249 |
393 |
4.52e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123864
|
| SMART Domains |
Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
95 |
200 |
1.9e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129895
AA Change: E371G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: E371G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
281 |
399 |
2.7e-16 |
PFAM |
|
B41
|
400 |
664 |
5.17e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139200
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164474
AA Change: E371G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: E371G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
|
PH
|
96 |
201 |
1.9e-5 |
SMART |
|
low complexity region
|
241 |
251 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
281 |
399 |
3.3e-16 |
PFAM |
|
B41
|
400 |
661 |
6.14e-4 |
SMART |
|
low complexity region
|
747 |
763 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3810 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
Het |
|
| Other mutations in Plekhh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Plekhh3
|
APN |
11 |
101,056,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0139:Plekhh3
|
UTSW |
11 |
101,054,501 (GRCm39) |
unclassified |
probably benign |
|
|
R0385:Plekhh3
|
UTSW |
11 |
101,055,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Plekhh3
|
UTSW |
11 |
101,055,592 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1839:Plekhh3
|
UTSW |
11 |
101,054,426 (GRCm39) |
unclassified |
probably benign |
|
|
R2845:Plekhh3
|
UTSW |
11 |
101,061,056 (GRCm39) |
intron |
probably benign |
|
|
R3110:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
|
R3111:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
|
R3112:Plekhh3
|
UTSW |
11 |
101,054,973 (GRCm39) |
unclassified |
probably benign |
|
|
R4882:Plekhh3
|
UTSW |
11 |
101,058,764 (GRCm39) |
missense |
probably null |
1.00 |
|
R4882:Plekhh3
|
UTSW |
11 |
101,056,009 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5290:Plekhh3
|
UTSW |
11 |
101,057,397 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5328:Plekhh3
|
UTSW |
11 |
101,058,484 (GRCm39) |
intron |
probably benign |
|
|
R6008:Plekhh3
|
UTSW |
11 |
101,055,591 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6028:Plekhh3
|
UTSW |
11 |
101,057,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Plekhh3
|
UTSW |
11 |
101,061,013 (GRCm39) |
intron |
probably benign |
|
|
R6994:Plekhh3
|
UTSW |
11 |
101,056,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7120:Plekhh3
|
UTSW |
11 |
101,059,064 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7324:Plekhh3
|
UTSW |
11 |
101,061,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7487:Plekhh3
|
UTSW |
11 |
101,056,405 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7525:Plekhh3
|
UTSW |
11 |
101,057,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Plekhh3
|
UTSW |
11 |
101,055,153 (GRCm39) |
missense |
unknown |
|
|
R8345:Plekhh3
|
UTSW |
11 |
101,055,105 (GRCm39) |
missense |
unknown |
|
|
R8827:Plekhh3
|
UTSW |
11 |
101,058,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Plekhh3
|
UTSW |
11 |
101,057,225 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9112:Plekhh3
|
UTSW |
11 |
101,061,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Plekhh3
|
UTSW |
11 |
101,056,015 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9599:Plekhh3
|
UTSW |
11 |
101,054,972 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGGAACTTTCTTTGACCTC -3'
(R):5'- AGACCCACGAGCATGCTAAG -3'
Sequencing Primer
(F):5'- GGGAACTTTCTTTGACCTCCTCAC -3'
(R):5'- GCATGCTAAGCAGATATCGAGTTATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation