Incidental Mutation 'R7622:Cdc42bpb'
ID |
589213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpb
|
Ensembl Gene |
ENSMUSG00000021279 |
Gene Name |
CDC42 binding protein kinase beta |
Synonyms |
DMPK-like |
MMRRC Submission |
045717-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.627)
|
Stock # |
R7622 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 111261206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 201
(E201A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000220657]
|
AlphaFold |
Q7TT50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041965
|
SMART Domains |
Protein: ENSMUSP00000042565 Gene: ENSMUSG00000021279
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 |
unknown
Transcript: ENSMUST00000220657
AA Change: E201A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222724
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (55/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
G |
A |
5: 129,216,688 (GRCm39) |
D384N |
probably benign |
Het |
Aqp8 |
T |
C |
7: 123,065,883 (GRCm39) |
F226S |
possibly damaging |
Het |
Arl6ip6 |
A |
G |
2: 53,107,339 (GRCm39) |
Y207C |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 37,002,562 (GRCm39) |
C1502* |
probably null |
Het |
Cbfa2t2 |
A |
G |
2: 154,342,365 (GRCm39) |
E27G |
possibly damaging |
Het |
Cfap54 |
A |
C |
10: 92,792,806 (GRCm39) |
V1769G |
unknown |
Het |
Dmxl2 |
C |
T |
9: 54,379,502 (GRCm39) |
G7S |
probably damaging |
Het |
Dnah6 |
G |
T |
6: 73,101,742 (GRCm39) |
F1927L |
possibly damaging |
Het |
Dnajc6 |
A |
G |
4: 101,497,688 (GRCm39) |
E942G |
probably damaging |
Het |
Fam170a |
A |
G |
18: 50,415,969 (GRCm39) |
R324G |
probably benign |
Het |
Gapdhs |
G |
A |
7: 30,438,756 (GRCm39) |
T9I |
unknown |
Het |
Gm10320 |
T |
A |
13: 98,626,232 (GRCm39) |
R51* |
probably null |
Het |
Gm19410 |
A |
T |
8: 36,277,501 (GRCm39) |
T1776S |
possibly damaging |
Het |
Gm4846 |
A |
T |
1: 166,323,441 (GRCm39) |
M94K |
possibly damaging |
Het |
Ighv2-5 |
G |
A |
12: 113,649,358 (GRCm39) |
Q32* |
probably null |
Het |
Klc2 |
T |
C |
19: 5,161,660 (GRCm39) |
E310G |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,478,707 (GRCm39) |
M309T |
probably damaging |
Het |
Lrp11 |
G |
A |
10: 7,465,936 (GRCm39) |
G41R |
unknown |
Het |
Lrrc52 |
G |
T |
1: 167,293,664 (GRCm39) |
P207Q |
probably benign |
Het |
Lrrc52 |
G |
T |
1: 167,293,665 (GRCm39) |
P207T |
probably benign |
Het |
Lrrk2 |
A |
T |
15: 91,696,526 (GRCm39) |
D2438V |
probably damaging |
Het |
Mycbp |
C |
T |
4: 123,799,094 (GRCm39) |
T28M |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,281,846 (GRCm39) |
V804A |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,426,238 (GRCm39) |
I332V |
unknown |
Het |
Ncor1 |
G |
T |
11: 62,208,794 (GRCm39) |
Q1359K |
probably benign |
Het |
Oog3 |
T |
C |
4: 143,884,889 (GRCm39) |
D349G |
probably benign |
Het |
Or12e1 |
A |
T |
2: 87,022,594 (GRCm39) |
I188L |
probably benign |
Het |
Or1j21 |
A |
G |
2: 36,683,943 (GRCm39) |
K232E |
probably benign |
Het |
Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
Or8k53 |
A |
G |
2: 86,178,006 (GRCm39) |
Y35H |
possibly damaging |
Het |
Pate4 |
A |
G |
9: 35,519,595 (GRCm39) |
S32P |
possibly damaging |
Het |
Pcdhb7 |
A |
C |
18: 37,475,514 (GRCm39) |
S217R |
probably benign |
Het |
Pde1c |
G |
A |
6: 56,103,910 (GRCm39) |
R580C |
probably damaging |
Het |
Pi4ka |
C |
A |
16: 17,111,841 (GRCm39) |
A1545S |
|
Het |
Pign |
G |
T |
1: 105,575,842 (GRCm39) |
T266K |
possibly damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,260,090 (GRCm39) |
I1134T |
probably benign |
Het |
Ppfia2 |
G |
A |
10: 106,666,520 (GRCm39) |
V409I |
possibly damaging |
Het |
Prr7 |
A |
G |
13: 55,620,609 (GRCm39) |
T206A |
probably benign |
Het |
Rnf13 |
A |
T |
3: 57,727,955 (GRCm39) |
R212* |
probably null |
Het |
Rwdd2b |
T |
C |
16: 87,231,500 (GRCm39) |
N218S |
probably benign |
Het |
Serpina3m |
A |
G |
12: 104,355,834 (GRCm39) |
D167G |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,142,547 (GRCm39) |
N56Y |
probably damaging |
Het |
Sprr3 |
G |
T |
3: 92,364,592 (GRCm39) |
T84K |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,709,766 (GRCm39) |
H1626Q |
possibly damaging |
Het |
Tex2 |
C |
A |
11: 106,437,721 (GRCm39) |
D650Y |
unknown |
Het |
Tmprss6 |
A |
G |
15: 78,330,926 (GRCm39) |
S436P |
probably benign |
Het |
Uba2 |
A |
C |
7: 33,864,860 (GRCm39) |
F63L |
probably damaging |
Het |
Ubxn2b |
C |
T |
4: 6,214,692 (GRCm39) |
S242L |
probably damaging |
Het |
Vmn1r86 |
T |
G |
7: 12,836,685 (GRCm39) |
I64L |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,662 (GRCm39) |
V781E |
probably damaging |
Het |
Vmn2r80 |
T |
A |
10: 79,030,097 (GRCm39) |
F641Y |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,800,231 (GRCm39) |
I1965K |
|
Het |
Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
Wdr90 |
G |
T |
17: 26,073,083 (GRCm39) |
F837L |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,834,468 (GRCm39) |
V704A |
possibly damaging |
Het |
Zc3h12d |
A |
G |
10: 7,743,033 (GRCm39) |
K268E |
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 |
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 |
R9511: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'- ACCTGGCTCAACTCTAAGGG -3'
(R):5'- CAAAGGTGTCCTTGTCTGTAGG -3'
Sequencing Primer
(F):5'- TGGCTCAACTCTAAGGGAAATC -3'
(R):5'- AGCCTGGAGTGCCTGTG -3'
|
Posted On |
2019-10-24 |