Incidental Mutation 'R4179:Plekhg4'
| ID |
319638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg4
|
| Ensembl Gene |
ENSMUSG00000014782 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 4 |
| Synonyms |
4931414L13Rik |
| MMRRC Submission |
041015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R4179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106099906-106109494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106108030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1029
(V1029E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014927]
[ENSMUST00000063071]
[ENSMUST00000159286]
[ENSMUST00000160191]
[ENSMUST00000167294]
[ENSMUST00000168196]
[ENSMUST00000214056]
|
| AlphaFold |
A0A1L1SU27 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014927
AA Change: V1029E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: V1029E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
364 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
718 |
N/A |
INTRINSIC |
|
RhoGEF
|
729 |
900 |
3.15e-29 |
SMART |
|
PH
|
914 |
1022 |
1.44e-5 |
SMART |
|
low complexity region
|
1148 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063071
|
| SMART Domains |
Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB_2
|
15 |
92 |
1.3e-9 |
PFAM |
|
internal_repeat_1
|
173 |
251 |
8.34e-9 |
PROSPERO |
|
internal_repeat_1
|
429 |
509 |
8.34e-9 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159286
|
| SMART Domains |
Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1aua_2
|
136 |
275 |
5e-9 |
SMART |
|
Blast:SEC14
|
137 |
271 |
9e-8 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160191
AA Change: V960E
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: V960E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
295 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
649 |
N/A |
INTRINSIC |
|
RhoGEF
|
660 |
831 |
3.15e-29 |
SMART |
|
PH
|
845 |
953 |
1.44e-5 |
SMART |
|
low complexity region
|
1079 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161672
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167294
|
| SMART Domains |
Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB_2
|
15 |
93 |
3.9e-10 |
PFAM |
|
internal_repeat_1
|
173 |
251 |
6.24e-9 |
PROSPERO |
|
internal_repeat_1
|
406 |
486 |
6.24e-9 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168196
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214056
AA Change: V1065E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2966 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
| Cdadc1 |
G |
T |
14: 59,829,935 (GRCm39) |
T77N |
probably benign |
Het |
| Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
| Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
| Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
| Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
| Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
| Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
| Loxl3 |
G |
A |
6: 83,014,565 (GRCm39) |
V158I |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,130,590 (GRCm39) |
*71W |
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,606,729 (GRCm39) |
I1510T |
probably benign |
Het |
| Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
| Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
| Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
| Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
possibly damaging |
Het |
|
| Other mutations in Plekhg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Plekhg4
|
APN |
8 |
106,102,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00970:Plekhg4
|
APN |
8 |
106,105,067 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01784:Plekhg4
|
APN |
8 |
106,105,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Plekhg4
|
APN |
8 |
106,105,884 (GRCm39) |
splice site |
probably benign |
|
|
IGL02371:Plekhg4
|
APN |
8 |
106,105,691 (GRCm39) |
splice site |
probably null |
|
|
IGL02984:Plekhg4
|
UTSW |
8 |
106,107,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Plekhg4
|
UTSW |
8 |
106,102,028 (GRCm39) |
nonsense |
probably null |
|
|
R0105:Plekhg4
|
UTSW |
8 |
106,108,644 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0105:Plekhg4
|
UTSW |
8 |
106,108,644 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0631:Plekhg4
|
UTSW |
8 |
106,105,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Plekhg4
|
UTSW |
8 |
106,108,309 (GRCm39) |
nonsense |
probably null |
|
|
R1201:Plekhg4
|
UTSW |
8 |
106,108,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Plekhg4
|
UTSW |
8 |
106,105,742 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1418:Plekhg4
|
UTSW |
8 |
106,105,742 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1459:Plekhg4
|
UTSW |
8 |
106,108,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1465:Plekhg4
|
UTSW |
8 |
106,107,672 (GRCm39) |
splice site |
probably benign |
|
|
R1558:Plekhg4
|
UTSW |
8 |
106,108,467 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1637:Plekhg4
|
UTSW |
8 |
106,108,413 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1757:Plekhg4
|
UTSW |
8 |
106,108,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1922:Plekhg4
|
UTSW |
8 |
106,105,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Plekhg4
|
UTSW |
8 |
106,108,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2074:Plekhg4
|
UTSW |
8 |
106,103,084 (GRCm39) |
small deletion |
probably benign |
|
|
R2113:Plekhg4
|
UTSW |
8 |
106,106,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Plekhg4
|
UTSW |
8 |
106,103,084 (GRCm39) |
small deletion |
probably benign |
|
|
R2196:Plekhg4
|
UTSW |
8 |
106,103,084 (GRCm39) |
small deletion |
probably benign |
|
|
R2321:Plekhg4
|
UTSW |
8 |
106,104,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2432:Plekhg4
|
UTSW |
8 |
106,108,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2908:Plekhg4
|
UTSW |
8 |
106,107,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Plekhg4
|
UTSW |
8 |
106,103,084 (GRCm39) |
small deletion |
probably benign |
|
|
R4180:Plekhg4
|
UTSW |
8 |
106,108,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4513:Plekhg4
|
UTSW |
8 |
106,107,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Plekhg4
|
UTSW |
8 |
106,107,003 (GRCm39) |
nonsense |
probably null |
|
|
R4946:Plekhg4
|
UTSW |
8 |
106,108,628 (GRCm39) |
missense |
probably null |
0.01 |
|
R5223:Plekhg4
|
UTSW |
8 |
106,105,581 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5362:Plekhg4
|
UTSW |
8 |
106,108,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5454:Plekhg4
|
UTSW |
8 |
106,102,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5609:Plekhg4
|
UTSW |
8 |
106,106,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5624:Plekhg4
|
UTSW |
8 |
106,107,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5806:Plekhg4
|
UTSW |
8 |
106,105,542 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6297:Plekhg4
|
UTSW |
8 |
106,104,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Plekhg4
|
UTSW |
8 |
106,105,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Plekhg4
|
UTSW |
8 |
106,107,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Plekhg4
|
UTSW |
8 |
106,105,316 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7577:Plekhg4
|
UTSW |
8 |
106,102,031 (GRCm39) |
missense |
probably benign |
|
|
R7632:Plekhg4
|
UTSW |
8 |
106,106,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Plekhg4
|
UTSW |
8 |
106,104,399 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7958:Plekhg4
|
UTSW |
8 |
106,103,281 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8239:Plekhg4
|
UTSW |
8 |
106,107,546 (GRCm39) |
nonsense |
probably null |
|
|
R8335:Plekhg4
|
UTSW |
8 |
106,102,848 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8411:Plekhg4
|
UTSW |
8 |
106,103,961 (GRCm39) |
nonsense |
probably null |
|
|
R9011:Plekhg4
|
UTSW |
8 |
106,102,284 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9017:Plekhg4
|
UTSW |
8 |
106,105,332 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9255:Plekhg4
|
UTSW |
8 |
106,103,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9297:Plekhg4
|
UTSW |
8 |
106,105,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Plekhg4
|
UTSW |
8 |
106,106,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9524:Plekhg4
|
UTSW |
8 |
106,101,398 (GRCm39) |
missense |
unknown |
|
|
R9613:Plekhg4
|
UTSW |
8 |
106,107,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Plekhg4
|
UTSW |
8 |
106,102,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Plekhg4
|
UTSW |
8 |
106,101,474 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATCCTGTCAGAGACCGG -3'
(R):5'- AGCAGTAACAGAGGGTCTGGTC -3'
Sequencing Primer
(F):5'- AACTTTCCTCGGGATATCAGAGGC -3'
(R):5'- GTCTGGTCGCCACCTCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation