Incidental Mutation 'R6450:Cdc42bpg'
| ID |
519385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpg
|
| Ensembl Gene |
ENSMUSG00000024769 |
| Gene Name |
CDC42 binding protein kinase gamma |
| Synonyms |
MRCKgamma |
| MMRRC Submission |
044586-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R6450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6356486-6375682 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 6364518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025681]
[ENSMUST00000025681]
|
| AlphaFold |
Q80UW5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025681
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
| 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 |
probably null
Transcript: ENSMUST00000025681
|
| SMART Domains |
Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
| 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: 99.8%
- 10x: 98.5%
- 20x: 95.1%
|
| Validation Efficiency |
97% (68/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
G |
7: 119,815,449 (GRCm39) |
N232K |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,171,294 (GRCm39) |
V5E |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,119,691 (GRCm39) |
D529E |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,459,683 (GRCm39) |
T798A |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,486,872 (GRCm39) |
T130A |
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 103,044,990 (GRCm39) |
S591G |
probably benign |
Het |
| Carmil1 |
C |
T |
13: 24,220,547 (GRCm39) |
G655E |
probably damaging |
Het |
| Clec12a |
T |
A |
6: 129,330,366 (GRCm39) |
L48H |
probably damaging |
Het |
| Coq2 |
C |
A |
5: 100,809,770 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,838 (GRCm39) |
F1113L |
possibly damaging |
Het |
| Ctla4 |
A |
T |
1: 60,951,872 (GRCm39) |
M134L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dync2i1 |
A |
T |
12: 116,210,347 (GRCm39) |
Y314* |
probably null |
Het |
| Efhb |
A |
G |
17: 53,759,632 (GRCm39) |
V290A |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Eva1a |
A |
T |
6: 82,069,086 (GRCm39) |
I138F |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,136 (GRCm39) |
I1402F |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,910,466 (GRCm39) |
H1845Q |
possibly damaging |
Het |
| Gimap8 |
T |
A |
6: 48,633,385 (GRCm39) |
F401L |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,152 (GRCm39) |
R166Q |
possibly damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,433 (GRCm39) |
P348S |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,251,812 (GRCm39) |
V849A |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,686,045 (GRCm39) |
N696K |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 927,056 (GRCm39) |
R598L |
probably damaging |
Homo |
| Kidins220 |
T |
C |
12: 25,107,190 (GRCm39) |
S1548P |
probably benign |
Het |
| Kif2b |
C |
A |
11: 91,467,192 (GRCm39) |
V364L |
probably damaging |
Het |
| Kitl |
A |
G |
10: 99,923,256 (GRCm39) |
M1V |
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Map6 |
T |
C |
7: 98,917,245 (GRCm39) |
I6T |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,010,941 (GRCm39) |
T768A |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,696,164 (GRCm39) |
V335A |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,305,897 (GRCm39) |
|
probably null |
Het |
| Myo5c |
C |
T |
9: 75,193,860 (GRCm39) |
T1205I |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,244,114 (GRCm39) |
L2114I |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,084,481 (GRCm39) |
K5330* |
probably null |
Het |
| Nfe2l1 |
C |
T |
11: 96,718,161 (GRCm39) |
E125K |
possibly damaging |
Het |
| Onecut3 |
A |
G |
10: 80,331,922 (GRCm39) |
K361E |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,725 (GRCm39) |
L145* |
probably null |
Het |
| Osbpl6 |
A |
G |
2: 76,395,174 (GRCm39) |
N370S |
possibly damaging |
Het |
| Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
| P2rx4 |
A |
G |
5: 122,865,304 (GRCm39) |
T310A |
possibly damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,146,215 (GRCm39) |
D769Y |
probably damaging |
Het |
| Pcgf6 |
C |
T |
19: 47,037,527 (GRCm39) |
R124H |
probably benign |
Het |
| Pibf1 |
T |
A |
14: 99,374,646 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,468 (GRCm39) |
E422G |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,709,606 (GRCm39) |
I85V |
possibly damaging |
Het |
| Prss27 |
A |
T |
17: 24,263,988 (GRCm39) |
K225* |
probably null |
Het |
| Rai1 |
A |
T |
11: 60,077,429 (GRCm39) |
T498S |
probably benign |
Het |
| Sbf2 |
C |
A |
7: 110,062,070 (GRCm39) |
G23V |
probably damaging |
Het |
| Sdha |
C |
T |
13: 74,482,412 (GRCm39) |
|
probably null |
Het |
| Sgo2a |
C |
T |
1: 58,042,092 (GRCm39) |
Q140* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,966 (GRCm39) |
D259G |
probably damaging |
Het |
| Slc27a3 |
C |
A |
3: 90,292,777 (GRCm39) |
D631Y |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,886,015 (GRCm39) |
S37P |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,192 (GRCm39) |
T88A |
probably benign |
Het |
| Smad4 |
A |
T |
18: 73,810,817 (GRCm39) |
S56T |
possibly damaging |
Het |
| Smarcd1 |
A |
G |
15: 99,605,766 (GRCm39) |
I346V |
possibly damaging |
Het |
| Spast |
C |
T |
17: 74,675,835 (GRCm39) |
P260S |
probably benign |
Het |
| Spata31f1e |
C |
A |
4: 42,792,489 (GRCm39) |
G548W |
probably damaging |
Het |
| Sprr2i |
A |
T |
3: 92,316,017 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,877,616 (GRCm39) |
|
probably benign |
Het |
| Taar9 |
A |
T |
10: 23,985,138 (GRCm39) |
Y99N |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,045,284 (GRCm39) |
M468K |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,945 (GRCm39) |
R814G |
probably benign |
Het |
| Tspan31 |
A |
G |
10: 126,904,227 (GRCm39) |
C157R |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,498 (GRCm39) |
D554G |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,305,527 (GRCm39) |
D70V |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,830,649 (GRCm39) |
G928R |
probably damaging |
Het |
| Zfp346 |
G |
T |
13: 55,261,517 (GRCm39) |
K102N |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,789,099 (GRCm39) |
P1002S |
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 |
|
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'- AATCACAGCTCGAAGGCCAG -3'
(R):5'- ACACTGATCCTGGGGAAGAG -3'
Sequencing Primer
(F):5'- GGTGACCACCCTGAGTCAG -3'
(R):5'- CCAAGGAGACGGAGCTGACTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation