Incidental Mutation 'R5208:Cdc42bpg'
ID |
402184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpg
|
Ensembl Gene |
ENSMUSG00000024769 |
Gene Name |
CDC42 binding protein kinase gamma |
Synonyms |
MRCKgamma |
MMRRC Submission |
042783-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R5208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 6371750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 1343
(R1343K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
AlphaFold |
Q80UW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025681
AA Change: R1343K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000025681 Gene: ENSMUSG00000024769 AA Change: R1343K
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
S_TKc
|
71 |
337 |
1.63e-87 |
SMART |
S_TK_X
|
338 |
400 |
7.85e-12 |
SMART |
coiled coil region
|
444 |
551 |
N/A |
INTRINSIC |
coiled coil region
|
630 |
675 |
N/A |
INTRINSIC |
Pfam:DMPK_coil
|
743 |
801 |
4.6e-21 |
PFAM |
low complexity region
|
861 |
873 |
N/A |
INTRINSIC |
C1
|
878 |
926 |
1.78e-7 |
SMART |
PH
|
947 |
1067 |
3.57e-10 |
SMART |
Pfam:CNH
|
1096 |
1362 |
7.5e-56 |
PFAM |
low complexity region
|
1401 |
1412 |
N/A |
INTRINSIC |
low complexity region
|
1535 |
1551 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141854
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,344,398 (GRCm39) |
N58I |
probably benign |
Het |
Adgra3 |
T |
C |
5: 50,168,857 (GRCm39) |
D163G |
probably damaging |
Het |
Alcam |
C |
A |
16: 52,115,411 (GRCm39) |
E236* |
probably null |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Aplf |
G |
T |
6: 87,619,008 (GRCm39) |
|
probably null |
Het |
Arl4a |
A |
T |
12: 40,086,744 (GRCm39) |
M1K |
probably null |
Het |
Asic4 |
A |
G |
1: 75,427,870 (GRCm39) |
D132G |
probably damaging |
Het |
Bbs12 |
T |
C |
3: 37,374,422 (GRCm39) |
I290T |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,008,865 (GRCm39) |
S290P |
probably benign |
Het |
Bmp6 |
G |
A |
13: 38,653,673 (GRCm39) |
A247T |
probably benign |
Het |
Cadps |
A |
G |
14: 12,457,711 (GRCm38) |
S1057P |
possibly damaging |
Het |
Caprin1 |
A |
C |
2: 103,599,778 (GRCm39) |
|
probably null |
Het |
Cdk18 |
A |
T |
1: 132,045,218 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,403,243 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
T |
1: 139,484,068 (GRCm39) |
|
probably null |
Het |
Chn2 |
A |
T |
6: 54,272,786 (GRCm39) |
I201F |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,673,129 (GRCm39) |
D175G |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnah3 |
C |
G |
7: 119,631,861 (GRCm39) |
D1365H |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,644,343 (GRCm39) |
Y372* |
probably null |
Het |
Eftud2 |
G |
A |
11: 102,732,011 (GRCm39) |
P768S |
probably damaging |
Het |
Ehmt1 |
A |
C |
2: 24,691,545 (GRCm39) |
S1170A |
probably benign |
Het |
Gdpd4 |
A |
C |
7: 97,664,118 (GRCm39) |
K572Q |
probably benign |
Het |
Gm7356 |
T |
C |
17: 14,221,456 (GRCm39) |
E191G |
probably damaging |
Het |
Gm8674 |
A |
T |
13: 50,055,957 (GRCm39) |
|
noncoding transcript |
Het |
Gulp1 |
T |
G |
1: 44,820,199 (GRCm39) |
H235Q |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,418 (GRCm39) |
V202A |
possibly damaging |
Het |
Inpp5b |
G |
A |
4: 124,645,110 (GRCm39) |
D179N |
possibly damaging |
Het |
Kcnk4 |
T |
A |
19: 6,905,069 (GRCm39) |
Y194F |
possibly damaging |
Het |
Lars1 |
A |
C |
18: 42,350,622 (GRCm39) |
S896A |
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,924,793 (GRCm39) |
V538A |
probably damaging |
Het |
Map3k14 |
A |
T |
11: 103,129,972 (GRCm39) |
L315Q |
probably damaging |
Het |
Met |
T |
A |
6: 17,526,422 (GRCm39) |
Y500* |
probably null |
Het |
Mga |
T |
G |
2: 119,778,462 (GRCm39) |
I2093M |
possibly damaging |
Het |
Mpl |
T |
G |
4: 118,313,078 (GRCm39) |
I152L |
probably benign |
Het |
Mthfsd |
G |
A |
8: 121,835,058 (GRCm39) |
|
probably benign |
Het |
Mup4 |
A |
G |
4: 59,958,119 (GRCm39) |
F150L |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,121,273 (GRCm39) |
V11D |
probably benign |
Het |
Or4f54 |
A |
T |
2: 111,122,946 (GRCm39) |
E111V |
probably damaging |
Het |
Or52n2c |
A |
G |
7: 104,574,933 (GRCm39) |
F13L |
probably benign |
Het |
Or5ak20 |
T |
A |
2: 85,184,142 (GRCm39) |
I43F |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,854 (GRCm39) |
|
probably null |
Het |
Pex2 |
C |
T |
3: 5,626,428 (GRCm39) |
R127H |
probably benign |
Het |
Pgap3 |
A |
G |
11: 98,288,874 (GRCm39) |
W94R |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,202,467 (GRCm39) |
V14A |
probably benign |
Het |
Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,822,548 (GRCm39) |
Y209C |
probably damaging |
Het |
Scart2 |
C |
A |
7: 139,877,949 (GRCm39) |
A977D |
probably benign |
Het |
Sema4c |
T |
A |
1: 36,589,407 (GRCm39) |
D573V |
probably damaging |
Het |
Setx |
A |
T |
2: 29,056,379 (GRCm39) |
I2192F |
possibly damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Sp4 |
A |
G |
12: 118,263,281 (GRCm39) |
L255P |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,456 (GRCm39) |
Y94C |
probably damaging |
Het |
Stt3a |
T |
G |
9: 36,657,891 (GRCm39) |
I390L |
possibly damaging |
Het |
Tars2 |
A |
G |
3: 95,654,905 (GRCm39) |
W128R |
probably damaging |
Het |
Tll1 |
G |
A |
8: 64,504,527 (GRCm39) |
T623M |
probably damaging |
Het |
Tmem129 |
A |
T |
5: 33,812,850 (GRCm39) |
V166E |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,870,051 (GRCm39) |
I73F |
probably benign |
Het |
Tnks1bp1 |
T |
C |
2: 84,900,976 (GRCm39) |
M1561T |
probably damaging |
Het |
Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,610,027 (GRCm39) |
V1153E |
probably benign |
Het |
Zwilch |
T |
C |
9: 64,060,205 (GRCm39) |
I354V |
probably benign |
Het |
|
Other mutations in Cdc42bpg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01149:Cdc42bpg
|
APN |
19 |
6,362,235 (GRCm39) |
splice site |
probably benign |
|
IGL01415:Cdc42bpg
|
APN |
19 |
6,360,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01517:Cdc42bpg
|
APN |
19 |
6,368,467 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01585:Cdc42bpg
|
APN |
19 |
6,370,462 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01743:Cdc42bpg
|
APN |
19 |
6,359,853 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01930:Cdc42bpg
|
APN |
19 |
6,361,398 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02092:Cdc42bpg
|
APN |
19 |
6,366,856 (GRCm39) |
splice site |
probably benign |
|
IGL02355:Cdc42bpg
|
APN |
19 |
6,360,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02362:Cdc42bpg
|
APN |
19 |
6,360,839 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02498:Cdc42bpg
|
APN |
19 |
6,372,823 (GRCm39) |
missense |
probably benign |
|
IGL03004:Cdc42bpg
|
APN |
19 |
6,361,413 (GRCm39) |
missense |
probably benign |
0.38 |
IGL03037:Cdc42bpg
|
APN |
19 |
6,361,230 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Cdc42bpg
|
UTSW |
19 |
6,372,582 (GRCm39) |
splice site |
probably null |
|
R0304:Cdc42bpg
|
UTSW |
19 |
6,367,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R0367:Cdc42bpg
|
UTSW |
19 |
6,361,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R0412:Cdc42bpg
|
UTSW |
19 |
6,363,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R0742:Cdc42bpg
|
UTSW |
19 |
6,368,605 (GRCm39) |
critical splice donor site |
probably null |
|
R1026:Cdc42bpg
|
UTSW |
19 |
6,367,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R1056:Cdc42bpg
|
UTSW |
19 |
6,364,051 (GRCm39) |
missense |
probably benign |
0.10 |
R1065:Cdc42bpg
|
UTSW |
19 |
6,372,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R1476:Cdc42bpg
|
UTSW |
19 |
6,363,812 (GRCm39) |
missense |
probably damaging |
0.99 |
R1854:Cdc42bpg
|
UTSW |
19 |
6,370,837 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1936:Cdc42bpg
|
UTSW |
19 |
6,360,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Cdc42bpg
|
UTSW |
19 |
6,356,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R2070:Cdc42bpg
|
UTSW |
19 |
6,370,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R2167:Cdc42bpg
|
UTSW |
19 |
6,367,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Cdc42bpg
|
UTSW |
19 |
6,367,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R3829:Cdc42bpg
|
UTSW |
19 |
6,367,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R4190:Cdc42bpg
|
UTSW |
19 |
6,371,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4249:Cdc42bpg
|
UTSW |
19 |
6,365,296 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4499:Cdc42bpg
|
UTSW |
19 |
6,370,585 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4731:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Cdc42bpg
|
UTSW |
19 |
6,361,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Cdc42bpg
|
UTSW |
19 |
6,370,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R4831:Cdc42bpg
|
UTSW |
19 |
6,361,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R4984:Cdc42bpg
|
UTSW |
19 |
6,366,253 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5092:Cdc42bpg
|
UTSW |
19 |
6,363,250 (GRCm39) |
missense |
probably benign |
0.01 |
R5135:Cdc42bpg
|
UTSW |
19 |
6,370,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R5183:Cdc42bpg
|
UTSW |
19 |
6,371,835 (GRCm39) |
intron |
probably benign |
|
R5240:Cdc42bpg
|
UTSW |
19 |
6,365,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:Cdc42bpg
|
UTSW |
19 |
6,361,101 (GRCm39) |
missense |
probably damaging |
0.99 |
R5703:Cdc42bpg
|
UTSW |
19 |
6,372,703 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5876:Cdc42bpg
|
UTSW |
19 |
6,360,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Cdc42bpg
|
UTSW |
19 |
6,367,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R6266:Cdc42bpg
|
UTSW |
19 |
6,361,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6450:Cdc42bpg
|
UTSW |
19 |
6,364,518 (GRCm39) |
splice site |
probably null |
|
R6493:Cdc42bpg
|
UTSW |
19 |
6,368,485 (GRCm39) |
missense |
probably damaging |
0.96 |
R6983:Cdc42bpg
|
UTSW |
19 |
6,371,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7080:Cdc42bpg
|
UTSW |
19 |
6,365,219 (GRCm39) |
missense |
probably damaging |
0.97 |
R7125:Cdc42bpg
|
UTSW |
19 |
6,372,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7183:Cdc42bpg
|
UTSW |
19 |
6,360,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Cdc42bpg
|
UTSW |
19 |
6,364,534 (GRCm39) |
missense |
probably benign |
0.11 |
R7426:Cdc42bpg
|
UTSW |
19 |
6,368,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R7504:Cdc42bpg
|
UTSW |
19 |
6,356,814 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7530:Cdc42bpg
|
UTSW |
19 |
6,372,306 (GRCm39) |
missense |
probably benign |
0.12 |
R7530:Cdc42bpg
|
UTSW |
19 |
6,372,305 (GRCm39) |
missense |
probably benign |
0.21 |
R7739:Cdc42bpg
|
UTSW |
19 |
6,360,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Cdc42bpg
|
UTSW |
19 |
6,363,499 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8186:Cdc42bpg
|
UTSW |
19 |
6,356,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8331:Cdc42bpg
|
UTSW |
19 |
6,363,477 (GRCm39) |
missense |
probably benign |
0.08 |
R8870:Cdc42bpg
|
UTSW |
19 |
6,364,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9014:Cdc42bpg
|
UTSW |
19 |
6,372,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9256:Cdc42bpg
|
UTSW |
19 |
6,361,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R9263:Cdc42bpg
|
UTSW |
19 |
6,372,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Cdc42bpg
|
UTSW |
19 |
6,364,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Cdc42bpg
|
UTSW |
19 |
6,363,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R9565:Cdc42bpg
|
UTSW |
19 |
6,370,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R9667:Cdc42bpg
|
UTSW |
19 |
6,370,115 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Cdc42bpg
|
UTSW |
19 |
6,364,553 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cdc42bpg
|
UTSW |
19 |
6,364,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Cdc42bpg
|
UTSW |
19 |
6,359,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCTTTCTGAGCAGAGGC -3'
(R):5'- CCTGCCAATGGATTCCTGAG -3'
Sequencing Primer
(F):5'- GGTTACGTGTAACACAGACTGCC -3'
(R):5'- CTGAGGTAGGTCAGGCGGAC -3'
|
Posted On |
2016-07-22 |