Incidental Mutation 'R5475:Cdc42bpg'
ID |
434055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpg
|
Ensembl Gene |
ENSMUSG00000024769 |
Gene Name |
CDC42 binding protein kinase gamma |
Synonyms |
MRCKgamma |
MMRRC Submission |
043036-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.348)
|
Stock # |
R5475 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6361101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 242
(I242T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
AlphaFold |
Q80UW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: I242T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025681 Gene: ENSMUSG00000024769 AA Change: I242T
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 |
|
Meta Mutation Damage Score |
0.6487 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
Validation Efficiency |
96% (72/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
Cse1l |
T |
C |
2: 166,783,174 (GRCm39) |
S684P |
probably damaging |
Het |
Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
Ephb4 |
A |
G |
5: 137,352,701 (GRCm39) |
M95V |
probably benign |
Het |
Fam171a1 |
A |
T |
2: 3,226,334 (GRCm39) |
Y489F |
possibly damaging |
Het |
Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,766,802 (GRCm39) |
V54A |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
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 |
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'- GGAACCCACCTAGAATTGAGC -3'
(R):5'- TCAAAGTCCAGCTGGTCTGAAG -3'
Sequencing Primer
(F):5'- CCACCTAGAATTGAGCCGAGG -3'
(R):5'- AAGTCCAGCTGGTCTGAAGTTACC -3'
|
Posted On |
2016-10-06 |