Incidental Mutation 'R5876:Cdc42bpg'
ID |
455564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpg
|
Ensembl Gene |
ENSMUSG00000024769 |
Gene Name |
CDC42 binding protein kinase gamma |
Synonyms |
MRCKgamma |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R5876 (G1)
|
Quality Score |
108 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6360845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 201
(I201N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
AlphaFold |
Q80UW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: I201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025681 Gene: ENSMUSG00000024769 AA Change: I201N
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034E13Rik |
A |
G |
18: 52,796,654 (GRCm39) |
D64G |
possibly damaging |
Het |
Ano2 |
T |
A |
6: 126,016,242 (GRCm39) |
M925K |
possibly damaging |
Het |
Arnt2 |
T |
C |
7: 83,996,720 (GRCm39) |
T69A |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,262,810 (GRCm39) |
N229K |
possibly damaging |
Het |
Atp13a3 |
T |
A |
16: 30,181,552 (GRCm39) |
N23Y |
probably benign |
Het |
Cbr4 |
G |
A |
8: 61,943,627 (GRCm39) |
G91R |
possibly damaging |
Het |
Cdc27 |
A |
T |
11: 104,406,244 (GRCm39) |
C624S |
probably benign |
Het |
Cdh5 |
A |
G |
8: 104,869,209 (GRCm39) |
Y645C |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,321,259 (GRCm39) |
V518I |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,617,821 (GRCm39) |
T761A |
possibly damaging |
Het |
Cpne4 |
C |
A |
9: 104,802,969 (GRCm39) |
S204R |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,740,849 (GRCm39) |
W1279R |
probably damaging |
Het |
Dennd4a |
C |
T |
9: 64,819,037 (GRCm39) |
P1731S |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,004,051 (GRCm39) |
V892D |
possibly damaging |
Het |
Fam131b |
A |
G |
6: 42,298,182 (GRCm39) |
|
probably null |
Het |
Fam83b |
T |
A |
9: 76,399,132 (GRCm39) |
D657V |
possibly damaging |
Het |
Fam83e |
T |
A |
7: 45,371,787 (GRCm39) |
|
probably null |
Het |
Fbxo4 |
A |
T |
15: 4,007,301 (GRCm39) |
I121N |
probably damaging |
Het |
Gabrg2 |
A |
G |
11: 41,859,647 (GRCm39) |
S202P |
probably damaging |
Het |
Grid2 |
T |
A |
6: 64,640,146 (GRCm39) |
I788N |
probably damaging |
Het |
Grik4 |
T |
A |
9: 42,599,319 (GRCm39) |
N53Y |
probably damaging |
Het |
Hipk2 |
A |
C |
6: 38,707,802 (GRCm39) |
|
probably null |
Het |
Hps5 |
T |
C |
7: 46,438,620 (GRCm39) |
T38A |
probably damaging |
Het |
Hs1bp3 |
A |
G |
12: 8,391,843 (GRCm39) |
D315G |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 117,996,073 (GRCm39) |
M985I |
probably damaging |
Het |
Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Het |
Krt86 |
T |
C |
15: 101,374,491 (GRCm39) |
S295P |
probably damaging |
Het |
Matr3 |
T |
A |
18: 35,720,791 (GRCm39) |
D413E |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,164,657 (GRCm39) |
F319L |
probably damaging |
Het |
Mcoln1 |
T |
A |
8: 3,560,910 (GRCm39) |
Y411N |
probably damaging |
Het |
Mpdz |
C |
A |
4: 81,203,711 (GRCm39) |
E1863* |
probably null |
Het |
Mrps9 |
A |
G |
1: 42,934,538 (GRCm39) |
E173G |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,191 (GRCm39) |
I51F |
probably benign |
Het |
Osmr |
T |
C |
15: 6,850,528 (GRCm39) |
T692A |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,441,984 (GRCm39) |
H3641L |
possibly damaging |
Het |
Pml |
T |
C |
9: 58,140,465 (GRCm39) |
T421A |
possibly damaging |
Het |
Podxl |
A |
G |
6: 31,505,391 (GRCm39) |
|
probably null |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Prkag3 |
A |
G |
1: 74,787,975 (GRCm39) |
|
probably benign |
Het |
Proz |
A |
G |
8: 13,123,448 (GRCm39) |
R240G |
probably benign |
Het |
Ptpn13 |
C |
A |
5: 103,624,826 (GRCm39) |
D43E |
probably damaging |
Het |
Rbm5 |
T |
G |
9: 107,637,525 (GRCm39) |
K135N |
probably damaging |
Het |
Ska1 |
G |
A |
18: 74,330,599 (GRCm39) |
T201M |
probably damaging |
Het |
Slc35f5 |
A |
C |
1: 125,515,100 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,309,842 (GRCm39) |
L510P |
probably damaging |
Het |
Speer4a2 |
T |
C |
5: 26,289,716 (GRCm39) |
E237G |
probably damaging |
Het |
Svil |
A |
G |
18: 5,082,828 (GRCm39) |
K1231E |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,813,439 (GRCm39) |
S1628P |
possibly damaging |
Het |
Tm9sf3 |
T |
A |
19: 41,229,023 (GRCm39) |
D260V |
probably damaging |
Het |
Ttc9 |
G |
T |
12: 81,678,396 (GRCm39) |
R73L |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,917,207 (GRCm39) |
I3684V |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,280,189 (GRCm39) |
|
probably null |
Het |
Vwa3b |
T |
A |
1: 37,115,520 (GRCm39) |
I328N |
probably damaging |
Het |
Wdr1 |
C |
T |
5: 38,687,366 (GRCm39) |
V222M |
probably benign |
Het |
Xpnpep1 |
T |
A |
19: 52,985,439 (GRCm39) |
T530S |
probably damaging |
Het |
Zc3h6 |
C |
T |
2: 128,835,197 (GRCm39) |
S111F |
probably benign |
Het |
Zfp768 |
G |
A |
7: 126,943,718 (GRCm39) |
P137S |
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 |
|
R5208:Cdc42bpg
|
UTSW |
19 |
6,371,750 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- GGAGCATTGTGAGCATGTACAC -3'
(R):5'- CGACTGATGAATCCACCTGTG -3'
Sequencing Primer
(F):5'- TTGTGAGCATGTACACACACAG -3'
(R):5'- TGTTGGCACCATGAGGC -3'
|
Posted On |
2017-02-10 |