Incidental Mutation 'R7183:Cdc42bpg'
| ID |
559140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
045235-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
R7183 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6360827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 195
(D195G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: D195G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: D195G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,215,706 (GRCm39) |
M816L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,995,032 (GRCm39) |
F5439L |
probably damaging |
Het |
| Apba2 |
G |
A |
7: 64,383,293 (GRCm39) |
D369N |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,097,679 (GRCm39) |
N228D |
probably benign |
Het |
| Arhgap33 |
T |
A |
7: 30,225,296 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
C |
T |
11: 94,330,563 (GRCm39) |
C984Y |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,679,720 (GRCm39) |
G47* |
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,826,866 (GRCm39) |
D241G |
possibly damaging |
Het |
| Ccdc39 |
T |
G |
3: 33,868,620 (GRCm39) |
E822A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdkl1 |
T |
C |
12: 69,795,706 (GRCm39) |
R275G |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,756,630 (GRCm39) |
N411S |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,116,730 (GRCm39) |
V210A |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,093 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
C |
A |
5: 37,446,161 (GRCm39) |
H606N |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,367,418 (GRCm39) |
N233K |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 139,097,990 (GRCm39) |
Q677L |
unknown |
Het |
| Dnah17 |
G |
A |
11: 118,020,014 (GRCm39) |
T11I |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,684 (GRCm39) |
H346R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Emc3 |
G |
T |
6: 113,508,345 (GRCm39) |
Y33* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,200,968 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
G |
T |
1: 44,200,969 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,834,133 (GRCm39) |
I4153S |
possibly damaging |
Het |
| Fn3krp |
T |
C |
11: 121,312,431 (GRCm39) |
|
probably null |
Het |
| Gmnc |
C |
T |
16: 26,779,279 (GRCm39) |
D249N |
probably benign |
Het |
| Gsn |
C |
T |
2: 35,184,960 (GRCm39) |
A305V |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,989 (GRCm39) |
H627Q |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,558,920 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
G |
T |
2: 74,528,709 (GRCm39) |
V104L |
possibly damaging |
Het |
| Igkv10-96 |
A |
C |
6: 68,609,200 (GRCm39) |
S32A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,216,436 (GRCm39) |
V47M |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,722,469 (GRCm39) |
V386M |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,614 (GRCm39) |
S404G |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,680 (GRCm39) |
I302V |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,734,486 (GRCm39) |
Q304L |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,628 (GRCm39) |
D70Y |
probably damaging |
Het |
| P4htm |
A |
T |
9: 108,459,059 (GRCm39) |
M291K |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,121,538 (GRCm39) |
S49P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,553 (GRCm39) |
V314A |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,837,916 (GRCm39) |
R31* |
probably null |
Het |
| Phlpp2 |
C |
A |
8: 110,666,585 (GRCm39) |
P1038Q |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,203 (GRCm39) |
S56P |
probably benign |
Het |
| Plec |
A |
G |
15: 76,089,905 (GRCm39) |
V145A |
unknown |
Het |
| Prg3 |
G |
A |
2: 84,821,848 (GRCm39) |
V158I |
probably benign |
Het |
| Prg3 |
G |
T |
2: 84,823,367 (GRCm39) |
D181Y |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,161 (GRCm39) |
T370A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,066 (GRCm39) |
M578K |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,242 (GRCm39) |
V72M |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,660,511 (GRCm39) |
D1864E |
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,486 (GRCm39) |
I255T |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,721,914 (GRCm39) |
L1089F |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,661 (GRCm39) |
N186S |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,378 (GRCm39) |
I74F |
possibly damaging |
Het |
| Timm44 |
T |
C |
8: 4,317,311 (GRCm39) |
D238G |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,931,365 (GRCm39) |
S782P |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,282,302 (GRCm39) |
K336N |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,257,049 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,440 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,278 (GRCm39) |
Q436R |
probably null |
Het |
| Ywhaq |
T |
C |
12: 21,466,870 (GRCm39) |
K75E |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,593 (GRCm39) |
S290P |
probably damaging |
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 |
|
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 |
|
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'- AGGAGCATTGTGAGCATGTAC -3'
(R):5'- GCGACTGATGAATCCACCTGTG -3'
Sequencing Primer
(F):5'- TTGTGAGCATGTACACACACAG -3'
(R):5'- TGTTGGCACCATGAGGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation