Incidental Mutation 'R9511:Cdc42bpb'
ID |
718189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpb
|
Ensembl Gene |
ENSMUSG00000021279 |
Gene Name |
CDC42 binding protein kinase beta |
Synonyms |
DMPK-like |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.627)
|
Stock # |
R9511 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 111261372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1656
(P1656S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000220657]
|
AlphaFold |
Q7TT50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041965
AA Change: P1656S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000042565 Gene: ENSMUSG00000021279 AA Change: P1656S
Domain | Start | End | E-Value | Type |
S_TKc
|
76 |
342 |
1e-87 |
SMART |
S_TK_X
|
343 |
405 |
5.02e-10 |
SMART |
Pfam:KELK
|
527 |
606 |
4.5e-32 |
PFAM |
low complexity region
|
628 |
640 |
N/A |
INTRINSIC |
coiled coil region
|
727 |
815 |
N/A |
INTRINSIC |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
Pfam:DMPK_coil
|
878 |
939 |
1.2e-29 |
PFAM |
C1
|
1027 |
1076 |
1.43e-11 |
SMART |
PH
|
1097 |
1217 |
1.19e-6 |
SMART |
CNH
|
1240 |
1521 |
1.32e-10 |
SMART |
low complexity region
|
1564 |
1576 |
N/A |
INTRINSIC |
PBD
|
1585 |
1620 |
7.16e-10 |
SMART |
low complexity region
|
1681 |
1696 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220657
AA Change: P146S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222724
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (69/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
A |
11: 9,278,130 (GRCm39) |
S3103R |
probably benign |
Het |
Alg9 |
A |
C |
9: 50,717,525 (GRCm39) |
Y436S |
probably damaging |
Het |
Ankar |
G |
A |
1: 72,719,161 (GRCm39) |
R563C |
probably benign |
Het |
Ankrd34a |
C |
A |
3: 96,505,401 (GRCm39) |
R202S |
probably benign |
Het |
Art4 |
T |
A |
6: 136,831,613 (GRCm39) |
N176I |
possibly damaging |
Het |
Bivm |
A |
G |
1: 44,182,250 (GRCm39) |
E486G |
possibly damaging |
Het |
Ccdc168 |
T |
G |
1: 44,098,854 (GRCm39) |
D748A |
probably benign |
Het |
Ccdc3 |
C |
A |
2: 5,143,090 (GRCm39) |
Q116K |
probably damaging |
Het |
Cdh6 |
T |
C |
15: 13,034,677 (GRCm39) |
D661G |
probably damaging |
Het |
Chek1 |
T |
C |
9: 36,624,747 (GRCm39) |
N368S |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,878,352 (GRCm39) |
F3924L |
probably damaging |
Het |
Dusp7 |
T |
C |
9: 106,248,125 (GRCm39) |
I251T |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,090,650 (GRCm39) |
W988R |
probably damaging |
Het |
Dzip1l |
T |
C |
9: 99,519,710 (GRCm39) |
V79A |
possibly damaging |
Het |
Ebf1 |
A |
G |
11: 44,815,393 (GRCm39) |
I344V |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,776,823 (GRCm39) |
E336G |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,034,802 (GRCm39) |
L2818P |
probably damaging |
Het |
Gjb3 |
T |
C |
4: 127,220,131 (GRCm39) |
S134G |
probably damaging |
Het |
Gm10647 |
T |
C |
9: 66,705,756 (GRCm39) |
F108L |
unknown |
Het |
Gm19410 |
A |
T |
8: 36,257,848 (GRCm39) |
D762V |
probably damaging |
Het |
Gper1 |
A |
G |
5: 139,412,138 (GRCm39) |
K161R |
probably benign |
Het |
Grin1 |
A |
G |
2: 25,187,426 (GRCm39) |
M628T |
probably damaging |
Het |
Gsdmc |
A |
T |
15: 63,649,897 (GRCm39) |
D331E |
probably benign |
Het |
Haus3 |
C |
A |
5: 34,325,571 (GRCm39) |
W29C |
probably damaging |
Het |
Il10ra |
T |
C |
9: 45,167,690 (GRCm39) |
E289G |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,361,793 (GRCm39) |
T1133A |
possibly damaging |
Het |
Ksr1 |
G |
A |
11: 78,924,094 (GRCm39) |
T458M |
possibly damaging |
Het |
Mc5r |
T |
A |
18: 68,472,565 (GRCm39) |
M308K |
possibly damaging |
Het |
Mis18a |
T |
C |
16: 90,518,525 (GRCm39) |
S146G |
possibly damaging |
Het |
Mrpl50 |
G |
A |
4: 49,514,501 (GRCm39) |
R57* |
probably null |
Het |
Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
Nanos1 |
T |
A |
19: 60,745,413 (GRCm39) |
I237N |
probably damaging |
Het |
Ncor1 |
TGC |
TGCGGC |
11: 62,324,449 (GRCm39) |
|
probably benign |
Het |
Ndst3 |
T |
A |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,828,511 (GRCm38) |
T111K |
probably benign |
Het |
Nipal2 |
T |
C |
15: 34,584,833 (GRCm39) |
Y245C |
probably damaging |
Het |
Npat |
T |
A |
9: 53,473,406 (GRCm39) |
D399E |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,429,738 (GRCm39) |
S378G |
probably damaging |
Het |
Or5b102 |
T |
C |
19: 13,041,119 (GRCm39) |
S115P |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pex16 |
A |
T |
2: 92,209,559 (GRCm39) |
|
probably null |
Het |
Plec |
A |
T |
15: 76,058,897 (GRCm39) |
I3680N |
probably damaging |
Het |
Plin3 |
A |
T |
17: 56,591,225 (GRCm39) |
V185E |
probably damaging |
Het |
Prex1 |
T |
A |
2: 166,413,481 (GRCm39) |
D1512V |
probably damaging |
Het |
Ptpn22 |
T |
A |
3: 103,792,913 (GRCm39) |
S355T |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,041,991 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
G |
9: 119,351,611 (GRCm39) |
I790T |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,499,943 (GRCm39) |
F340L |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,828,916 (GRCm39) |
T341A |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,721,921 (GRCm39) |
Y374H |
probably damaging |
Het |
Slitrk3 |
T |
G |
3: 72,958,272 (GRCm39) |
S167R |
possibly damaging |
Het |
Smchd1 |
G |
A |
17: 71,750,899 (GRCm39) |
H340Y |
possibly damaging |
Het |
Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
Sox9 |
A |
G |
11: 112,676,001 (GRCm39) |
T397A |
possibly damaging |
Het |
Tnpo1 |
C |
A |
13: 99,003,621 (GRCm39) |
R245L |
possibly damaging |
Het |
Traip |
T |
A |
9: 107,838,785 (GRCm39) |
M183K |
probably damaging |
Het |
Trpc6 |
A |
T |
9: 8,680,419 (GRCm39) |
E882D |
probably benign |
Het |
Uba6 |
C |
A |
5: 86,288,219 (GRCm39) |
G491V |
probably damaging |
Het |
Uqcrfs1 |
A |
T |
13: 30,729,037 (GRCm39) |
V65E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,668,128 (GRCm39) |
D113G |
probably damaging |
Het |
Wdr76 |
C |
T |
2: 121,372,976 (GRCm39) |
T503M |
probably damaging |
Het |
Zfp27 |
T |
C |
7: 29,593,641 (GRCm39) |
T775A |
possibly damaging |
Het |
Zfp518b |
A |
T |
5: 38,829,395 (GRCm39) |
V870E |
possibly damaging |
Het |
Zfp932 |
T |
A |
5: 110,155,177 (GRCm39) |
H63Q |
possibly damaging |
Het |
Zkscan6 |
C |
A |
11: 65,712,817 (GRCm39) |
T250N |
probably damaging |
Het |
Zmat2 |
A |
T |
18: 36,930,958 (GRCm39) |
K161N |
possibly damaging |
Het |
Zyg11a |
A |
G |
4: 108,062,420 (GRCm39) |
L127P |
probably damaging |
Het |
|
Other mutations in Cdc42bpb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01335:Cdc42bpb
|
APN |
12 |
111,260,530 (GRCm39) |
unclassified |
probably benign |
|
IGL01360:Cdc42bpb
|
APN |
12 |
111,308,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01577:Cdc42bpb
|
APN |
12 |
111,268,477 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01909:Cdc42bpb
|
APN |
12 |
111,289,576 (GRCm39) |
missense |
probably benign |
|
IGL01924:Cdc42bpb
|
APN |
12 |
111,283,887 (GRCm39) |
unclassified |
probably benign |
|
IGL02428:Cdc42bpb
|
APN |
12 |
111,289,561 (GRCm39) |
missense |
probably benign |
|
IGL02678:Cdc42bpb
|
APN |
12 |
111,292,530 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Cdc42bpb
|
APN |
12 |
111,265,995 (GRCm39) |
missense |
probably benign |
|
IGL03367:Cdc42bpb
|
APN |
12 |
111,302,593 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
PIT4585001:Cdc42bpb
|
UTSW |
12 |
111,271,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R0129:Cdc42bpb
|
UTSW |
12 |
111,271,393 (GRCm39) |
intron |
probably benign |
|
R0633:Cdc42bpb
|
UTSW |
12 |
111,311,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R1054:Cdc42bpb
|
UTSW |
12 |
111,279,787 (GRCm39) |
missense |
probably benign |
0.00 |
R1335:Cdc42bpb
|
UTSW |
12 |
111,262,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R1459:Cdc42bpb
|
UTSW |
12 |
111,262,734 (GRCm39) |
unclassified |
probably benign |
|
R1780:Cdc42bpb
|
UTSW |
12 |
111,289,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R1823:Cdc42bpb
|
UTSW |
12 |
111,293,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Cdc42bpb
|
UTSW |
12 |
111,289,255 (GRCm39) |
missense |
probably benign |
|
R1902:Cdc42bpb
|
UTSW |
12 |
111,292,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1945:Cdc42bpb
|
UTSW |
12 |
111,265,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R2077:Cdc42bpb
|
UTSW |
12 |
111,265,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Cdc42bpb
|
UTSW |
12 |
111,262,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R2208:Cdc42bpb
|
UTSW |
12 |
111,302,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Cdc42bpb
|
UTSW |
12 |
111,268,288 (GRCm39) |
missense |
probably benign |
0.11 |
R2273:Cdc42bpb
|
UTSW |
12 |
111,268,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R2406:Cdc42bpb
|
UTSW |
12 |
111,268,558 (GRCm39) |
missense |
probably benign |
0.00 |
R3080:Cdc42bpb
|
UTSW |
12 |
111,262,252 (GRCm39) |
missense |
probably damaging |
0.99 |
R3612:Cdc42bpb
|
UTSW |
12 |
111,270,256 (GRCm39) |
intron |
probably benign |
|
R4106:Cdc42bpb
|
UTSW |
12 |
111,261,579 (GRCm39) |
missense |
probably benign |
0.01 |
R4133:Cdc42bpb
|
UTSW |
12 |
111,287,976 (GRCm39) |
missense |
probably benign |
0.00 |
R4156:Cdc42bpb
|
UTSW |
12 |
111,260,573 (GRCm39) |
missense |
probably benign |
0.17 |
R4202:Cdc42bpb
|
UTSW |
12 |
111,260,573 (GRCm39) |
missense |
probably benign |
0.17 |
R4573:Cdc42bpb
|
UTSW |
12 |
111,289,575 (GRCm39) |
missense |
probably benign |
0.00 |
R4659:Cdc42bpb
|
UTSW |
12 |
111,306,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Cdc42bpb
|
UTSW |
12 |
111,265,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Cdc42bpb
|
UTSW |
12 |
111,289,521 (GRCm39) |
missense |
probably benign |
0.01 |
R5669:Cdc42bpb
|
UTSW |
12 |
111,268,447 (GRCm39) |
critical splice donor site |
probably null |
|
R5830:Cdc42bpb
|
UTSW |
12 |
111,312,016 (GRCm39) |
nonsense |
probably null |
|
R5872:Cdc42bpb
|
UTSW |
12 |
111,292,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R6748:Cdc42bpb
|
UTSW |
12 |
111,261,273 (GRCm39) |
unclassified |
probably benign |
|
R6813:Cdc42bpb
|
UTSW |
12 |
111,294,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7024:Cdc42bpb
|
UTSW |
12 |
111,292,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7165:Cdc42bpb
|
UTSW |
12 |
111,287,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Cdc42bpb
|
UTSW |
12 |
111,271,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7258:Cdc42bpb
|
UTSW |
12 |
111,292,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Cdc42bpb
|
UTSW |
12 |
111,265,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R7361:Cdc42bpb
|
UTSW |
12 |
111,312,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R7399:Cdc42bpb
|
UTSW |
12 |
111,272,101 (GRCm39) |
missense |
probably benign |
0.00 |
R7468:Cdc42bpb
|
UTSW |
12 |
111,306,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Cdc42bpb
|
UTSW |
12 |
111,261,206 (GRCm39) |
missense |
unknown |
|
R7648:Cdc42bpb
|
UTSW |
12 |
111,343,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R7734:Cdc42bpb
|
UTSW |
12 |
111,295,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R7783:Cdc42bpb
|
UTSW |
12 |
111,302,459 (GRCm39) |
critical splice donor site |
probably null |
|
R8738:Cdc42bpb
|
UTSW |
12 |
111,274,221 (GRCm39) |
missense |
probably benign |
0.42 |
R9111:Cdc42bpb
|
UTSW |
12 |
111,284,903 (GRCm39) |
missense |
probably benign |
|
R9168:Cdc42bpb
|
UTSW |
12 |
111,286,517 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9506:Cdc42bpb
|
UTSW |
12 |
111,261,372 (GRCm39) |
missense |
probably benign |
0.00 |
R9510:Cdc42bpb
|
UTSW |
12 |
111,261,372 (GRCm39) |
missense |
probably benign |
0.00 |
R9542:Cdc42bpb
|
UTSW |
12 |
111,268,508 (GRCm39) |
nonsense |
probably null |
|
R9563:Cdc42bpb
|
UTSW |
12 |
111,265,762 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9758:Cdc42bpb
|
UTSW |
12 |
111,265,783 (GRCm39) |
missense |
possibly damaging |
0.65 |
V7582:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
V7583:Cdc42bpb
|
UTSW |
12 |
111,262,825 (GRCm39) |
missense |
probably benign |
0.28 |
X0023:Cdc42bpb
|
UTSW |
12 |
111,292,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCTGTACGGTGTCTTCGC -3'
(R):5'- TATGCCAGTCTCATGTGCTG -3'
Sequencing Primer
(F):5'- ACGGTGTCTTCGCTGTTCCAG -3'
(R):5'- AGAGTGCTGCACCCACTGTC -3'
|
Posted On |
2022-07-18 |