Incidental Mutation 'R9758:Cdc42bpb'
| ID |
732866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R9758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111265783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1383
(V1383E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000220657]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041965
AA Change: V1383E
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: V1383E
| 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: ENSMUST00000220657
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,879,799 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actmap |
T |
C |
7: 26,896,655 (GRCm39) |
S73P |
possibly damaging |
Het |
| Bmper |
G |
A |
9: 23,286,902 (GRCm39) |
G276D |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,984,613 (GRCm39) |
M549K |
probably benign |
Het |
| Caprin1 |
A |
G |
2: 103,606,283 (GRCm39) |
V319A |
possibly damaging |
Het |
| Cchcr1 |
G |
A |
17: 35,839,285 (GRCm39) |
|
probably null |
Het |
| Cep350 |
T |
C |
1: 155,770,433 (GRCm39) |
E1819G |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,869,054 (GRCm39) |
E163G |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,792 (GRCm39) |
R50* |
probably null |
Het |
| Cntn3 |
A |
G |
6: 102,183,511 (GRCm39) |
S715P |
probably damaging |
Het |
| Creb1 |
A |
T |
1: 64,598,909 (GRCm39) |
R95S |
probably benign |
Het |
| Ctdp1 |
T |
C |
18: 80,492,710 (GRCm39) |
Y595C |
probably damaging |
Het |
| Cts7 |
C |
T |
13: 61,504,223 (GRCm39) |
E86K |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,440 (GRCm39) |
N113S |
unknown |
Het |
| Dhdds |
T |
C |
4: 133,727,706 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,938 (GRCm39) |
S998P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,985,395 (GRCm39) |
D3832G |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,182 (GRCm39) |
L344P |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,324,199 (GRCm39) |
T1256I |
probably benign |
Het |
| Fam234a |
A |
T |
17: 26,432,627 (GRCm39) |
D507E |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
| Foxd4 |
A |
T |
19: 24,877,670 (GRCm39) |
W177R |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,961 (GRCm39) |
S288G |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,789,519 (GRCm39) |
H275R |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,206,366 (GRCm39) |
T17A |
probably benign |
Het |
| Gm1110 |
A |
T |
9: 26,800,894 (GRCm39) |
Y433* |
probably null |
Het |
| Gm6408 |
C |
A |
5: 146,420,628 (GRCm39) |
D169E |
probably benign |
Het |
| Gramd2b |
T |
A |
18: 56,611,972 (GRCm39) |
V145E |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hcn1 |
GCA |
GCAACA |
13: 118,112,305 (GRCm39) |
|
probably benign |
Het |
| Hif1an |
G |
A |
19: 44,558,378 (GRCm39) |
V293M |
probably damaging |
Het |
| Hyal3 |
A |
G |
9: 107,462,347 (GRCm39) |
D127G |
probably damaging |
Het |
| Ighg1 |
T |
A |
12: 113,293,252 (GRCm39) |
D146V |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,216,347 (GRCm39) |
D362E |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,080,961 (GRCm39) |
E601K |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,620 (GRCm39) |
P662T |
possibly damaging |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,229 (GRCm39) |
T151I |
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,379,752 (GRCm39) |
I327N |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,082,439 (GRCm39) |
I53V |
possibly damaging |
Het |
| Or10z1 |
A |
G |
1: 174,077,902 (GRCm39) |
L197P |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,040 (GRCm39) |
V382A |
probably benign |
Het |
| Pex1 |
A |
T |
5: 3,685,876 (GRCm39) |
I1206F |
probably damaging |
Het |
| Pi4k2b |
T |
A |
5: 52,918,331 (GRCm39) |
D386E |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,945,427 (GRCm39) |
F1460L |
probably damaging |
Het |
| Plcb2 |
A |
C |
2: 118,545,921 (GRCm39) |
M588R |
probably damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,893,260 (GRCm39) |
R216L |
possibly damaging |
Het |
| Psg28 |
G |
T |
7: 18,156,887 (GRCm39) |
Y449* |
probably null |
Het |
| Psg28 |
T |
A |
7: 18,164,602 (GRCm39) |
T37S |
probably benign |
Het |
| Psmd9 |
G |
T |
5: 123,372,745 (GRCm39) |
R76M |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,459,391 (GRCm39) |
D189G |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,397,666 (GRCm39) |
S363P |
probably benign |
Het |
| Sco1 |
T |
A |
11: 66,949,250 (GRCm39) |
D239E |
probably damaging |
Het |
| Sec24d |
C |
T |
3: 123,136,803 (GRCm39) |
T512M |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,046,442 (GRCm39) |
K441E |
probably benign |
Het |
| Slc44a5 |
A |
T |
3: 153,959,322 (GRCm39) |
I338F |
probably damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,534,319 (GRCm39) |
I1161F |
probably damaging |
Het |
| Spmip11 |
T |
A |
15: 98,483,264 (GRCm39) |
L65I |
probably damaging |
Het |
| Tnfsf9 |
T |
A |
17: 57,414,355 (GRCm39) |
L261M |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,699,498 (GRCm39) |
R77C |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,168,637 (GRCm39) |
I831T |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,081,438 (GRCm39) |
I60V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,603,230 (GRCm39) |
N860S |
|
Het |
| Zfp54 |
T |
A |
17: 21,654,149 (GRCm39) |
N214K |
probably benign |
Het |
| Zfp707 |
T |
C |
15: 75,845,418 (GRCm39) |
I94T |
|
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 |
|
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 |
|
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'- GTACAGTCCCATGTGGCTGAAG -3'
(R):5'- AGCGAGCAACTTTGACATCAAG -3'
Sequencing Primer
(F):5'- GCAAAGCAGGTACTCCTCACTTTTG -3'
(R):5'- ACTTTGACATCAAGCTCCCGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation