Incidental Mutation 'IGL01924:Cdc42bpb'
| ID |
180237 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 111283887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| 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 |
probably benign
Transcript: ENSMUST00000222724
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
| Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
| Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,666,944 (GRCm39) |
L444F |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
| Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
| Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,169 (GRCm39) |
F209L |
possibly damaging |
Het |
| Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
| Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,255 (GRCm39) |
C247* |
probably null |
Het |
| Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
| Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
| Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
| Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
| Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
| Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
| Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
possibly 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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation