Incidental Mutation 'R4797:Cdc42bpg'
| ID |
369172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
042421-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R4797 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6370477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1190
(R1190Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025681
AA Change: R1190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: R1190Q
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
| Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
| Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
| Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
| Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
| Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
| Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
| Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
| Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
| Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
| Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
| Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
| Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
| Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
| Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
| Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
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 |
|
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 |
|
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'- TCACAGCAATGGTACCAGAGG -3'
(R):5'- TCATTGAGCAGCGGGTAGAG -3'
Sequencing Primer
(F):5'- ACCGCAGACATCTTCCAGGTG -3'
(R):5'- AGAGCGAAGGTGCCTGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation