Incidental Mutation 'R3080:Cdc42bpb'
ID |
265391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpb
|
Ensembl Gene |
ENSMUSG00000021279 |
Gene Name |
CDC42 binding protein kinase beta |
Synonyms |
DMPK-like |
MMRRC Submission |
040570-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.627)
|
Stock # |
R3080 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111262252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 75
(I75T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000220657]
|
AlphaFold |
Q7TT50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041965
AA Change: I1585T
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000042565 Gene: ENSMUSG00000021279 AA Change: I1585T
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 |
noncoding transcript
Transcript: ENSMUST00000181055
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220619
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220657
AA Change: I75T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222724
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amer3 |
T |
G |
1: 34,627,503 (GRCm39) |
L581V |
probably benign |
Het |
Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
Ciao2b |
G |
C |
8: 105,368,259 (GRCm39) |
R22G |
possibly damaging |
Het |
Clca4a |
T |
A |
3: 144,669,551 (GRCm39) |
K333N |
probably damaging |
Het |
Copa |
G |
T |
1: 171,940,716 (GRCm39) |
D710Y |
probably damaging |
Het |
Cyp3a25 |
T |
A |
5: 145,935,341 (GRCm39) |
I92F |
probably benign |
Het |
Dcx |
T |
A |
X: 142,706,266 (GRCm39) |
D175V |
probably damaging |
Het |
Fam76b |
G |
A |
9: 13,744,458 (GRCm39) |
G185D |
probably benign |
Het |
Fastkd5 |
T |
C |
2: 130,457,373 (GRCm39) |
M406V |
possibly damaging |
Het |
Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
Gak |
T |
C |
5: 108,761,468 (GRCm39) |
K188E |
possibly damaging |
Het |
Gemin2 |
G |
A |
12: 59,071,877 (GRCm39) |
C230Y |
probably damaging |
Het |
Gm5150 |
A |
C |
3: 16,045,085 (GRCm39) |
S47A |
possibly damaging |
Het |
H3c2 |
A |
G |
13: 23,936,481 (GRCm39) |
H40R |
possibly damaging |
Het |
Herc3 |
A |
T |
6: 58,833,631 (GRCm39) |
|
probably null |
Het |
Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
Igkv13-54-1 |
A |
G |
6: 69,594,454 (GRCm39) |
|
probably null |
Het |
Itgad |
T |
C |
7: 127,784,959 (GRCm39) |
I288T |
possibly damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Ltbp3 |
GTA |
GTATA |
19: 5,806,916 (GRCm39) |
|
probably null |
Het |
Map4k2 |
G |
A |
19: 6,403,218 (GRCm39) |
E774K |
probably damaging |
Het |
Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
Or6d14 |
T |
G |
6: 116,534,178 (GRCm39) |
V264G |
probably damaging |
Het |
Pcdhb3 |
T |
G |
18: 37,434,535 (GRCm39) |
L167R |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
Shcbp1l |
A |
G |
1: 153,311,783 (GRCm39) |
E312G |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc1a2 |
T |
G |
2: 102,578,901 (GRCm39) |
L272R |
probably damaging |
Het |
Slc35a5 |
A |
T |
16: 44,964,758 (GRCm39) |
S152T |
probably benign |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tbr1 |
C |
T |
2: 61,637,635 (GRCm39) |
Q65* |
probably null |
Het |
Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,997,205 (GRCm39) |
D287G |
probably damaging |
Het |
Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
Zfp35 |
T |
A |
18: 24,136,367 (GRCm39) |
I237N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCATCACTTGACTGAGTC -3'
(R):5'- AACGACGTTTTGTCTTCAAGGTTC -3'
Sequencing Primer
(F):5'- ATCACTTGACTGAGTCCCACG -3'
(R):5'- TCTTCAAGGTTCCCGAGGAAG -3'
|
Posted On |
2015-02-05 |