Incidental Mutation 'R5872:Cdc42bpb'
| ID |
455266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
044079-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R5872 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111292410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 375
(D375G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041965
AA Change: D375G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: D375G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,309 (GRCm39) |
S1219P |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,538,489 (GRCm39) |
Y644H |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,007,902 (GRCm39) |
R1232S |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,975 (GRCm39) |
V70M |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,986,446 (GRCm39) |
I42V |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,071,267 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
A |
T |
1: 172,071,975 (GRCm39) |
L432Q |
probably damaging |
Het |
| Bbs12 |
T |
A |
3: 37,374,598 (GRCm39) |
C349S |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,007 (GRCm39) |
V479A |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,748,043 (GRCm39) |
K761* |
probably null |
Het |
| Cd177 |
C |
T |
7: 24,451,688 (GRCm39) |
G443R |
probably null |
Het |
| Chsy3 |
T |
C |
18: 59,309,268 (GRCm39) |
Y174H |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,943 (GRCm39) |
M382V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,531,926 (GRCm39) |
S782N |
unknown |
Het |
| Crtac1 |
C |
T |
19: 42,297,629 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,445,923 (GRCm39) |
D3683V |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,354 (GRCm39) |
L62P |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,867 (GRCm39) |
K208* |
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,278,680 (GRCm39) |
L394P |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,305 (GRCm39) |
E192G |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,059,997 (GRCm39) |
I226V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,161,208 (GRCm39) |
E3174G |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,881,826 (GRCm39) |
R91Q |
probably damaging |
Het |
| Hdhd5 |
G |
T |
6: 120,487,252 (GRCm39) |
D368E |
probably benign |
Het |
| Hk3 |
T |
A |
13: 55,158,617 (GRCm39) |
I528F |
probably damaging |
Het |
| Il10ra |
A |
C |
9: 45,166,951 (GRCm39) |
S533R |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,305,950 (GRCm39) |
K169N |
probably benign |
Het |
| Lrrc17 |
A |
G |
5: 21,780,264 (GRCm39) |
T413A |
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,861,053 (GRCm39) |
D882N |
probably benign |
Het |
| Met |
T |
C |
6: 17,562,197 (GRCm39) |
V1186A |
probably damaging |
Het |
| Msh5 |
C |
T |
17: 35,248,628 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,600,648 (GRCm39) |
I1326M |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,850,896 (GRCm38) |
I314V |
probably benign |
Het |
| Or10g1 |
A |
C |
14: 52,648,225 (GRCm39) |
F35V |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,412 (GRCm39) |
Y143N |
probably benign |
Het |
| Pim1 |
A |
G |
17: 29,712,720 (GRCm39) |
E211G |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,189 (GRCm39) |
Y90N |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,704,144 (GRCm39) |
D903E |
probably benign |
Het |
| Ptpn14 |
T |
C |
1: 189,583,229 (GRCm39) |
L692P |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,977,138 (GRCm39) |
C387R |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,418,369 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
A |
G |
5: 125,381,341 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,800 (GRCm39) |
D359V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,063,817 (GRCm39) |
S1297P |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,069,125 (GRCm39) |
D250G |
probably damaging |
Het |
| Slamf7 |
A |
G |
1: 171,466,635 (GRCm39) |
L190S |
probably damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,652,355 (GRCm39) |
P423L |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,697,137 (GRCm39) |
E217V |
probably damaging |
Het |
| Spocd1 |
A |
T |
4: 129,850,254 (GRCm39) |
N760I |
probably damaging |
Het |
| Tas2r136 |
G |
T |
6: 132,754,294 (GRCm39) |
P278T |
possibly damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,836 (GRCm39) |
Q180L |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,858,010 (GRCm39) |
T79S |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,965,105 (GRCm39) |
C430S |
probably benign |
Het |
| Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
| Trmt1l |
T |
G |
1: 151,316,594 (GRCm39) |
I32S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,152,641 (GRCm39) |
T2011A |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,569,652 (GRCm39) |
W1358* |
probably null |
Het |
| Usp31 |
T |
G |
7: 121,248,698 (GRCm39) |
H915P |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,377 (GRCm39) |
M79K |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,222 (GRCm39) |
I117T |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,869,497 (GRCm39) |
H2667R |
possibly damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,305,962 (GRCm39) |
T912M |
possibly damaging |
Het |
| Zfp709 |
G |
A |
8: 72,643,363 (GRCm39) |
C264Y |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,156,898 (GRCm39) |
I467V |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,347,281 (GRCm39) |
D214V |
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 |
|
|
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'- GCTGAAAGCTTTAAAGTAACTGCC -3'
(R):5'- CCGATGTCTCTGAAGAAGCAAAAG -3'
Sequencing Primer
(F):5'- CATATGACAGGGCTGGAATTCACTC -3'
(R):5'- GACCTTATCCAGAGACTAATATGCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation