Incidental Mutation 'R4659:Cdc42bpb'
| ID |
352702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
041919-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R4659 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111306325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000222196]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041965
AA Change: D126G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: D126G
| 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 damaging
Transcript: ENSMUST00000222196
AA Change: D152G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.8687 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (74/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
A |
6: 142,618,321 (GRCm39) |
|
probably null |
Het |
| Ankrd22 |
C |
T |
19: 34,102,968 (GRCm39) |
V118I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,811,469 (GRCm39) |
N1114S |
possibly damaging |
Het |
| AU021092 |
C |
G |
16: 5,030,011 (GRCm39) |
A335P |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,482,129 (GRCm39) |
T51A |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,178,394 (GRCm39) |
D497E |
possibly damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,102 (GRCm39) |
N338S |
probably benign |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,229 (GRCm39) |
*586K |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,245,760 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,384,085 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,595,201 (GRCm39) |
F1371S |
possibly damaging |
Het |
| Eif6 |
A |
G |
2: 155,668,101 (GRCm39) |
I46T |
probably damaging |
Het |
| Esco2 |
G |
A |
14: 66,064,035 (GRCm39) |
T383M |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,624,271 (GRCm39) |
D32G |
probably damaging |
Het |
| Fam149b |
G |
T |
14: 20,417,941 (GRCm39) |
S216I |
probably benign |
Het |
| Fam219a |
T |
C |
4: 41,521,645 (GRCm39) |
D87G |
probably null |
Het |
| Fbxw26 |
A |
T |
9: 109,573,939 (GRCm39) |
V71D |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,487 (GRCm39) |
K164M |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,080,103 (GRCm39) |
D218G |
possibly damaging |
Het |
| Gm8603 |
G |
A |
17: 13,737,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gnmt |
A |
G |
17: 47,036,892 (GRCm39) |
F239S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,305,444 (GRCm39) |
D2V |
probably benign |
Het |
| Limch1 |
C |
T |
5: 67,184,900 (GRCm39) |
R797C |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,517,038 (GRCm39) |
F597I |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,835,090 (GRCm39) |
I275N |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,840 (GRCm39) |
S387R |
probably damaging |
Het |
| Mgst3 |
T |
A |
1: 167,204,848 (GRCm39) |
Q58L |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,362,932 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
C |
A |
9: 7,453,673 (GRCm39) |
D431E |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,256,439 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,734,673 (GRCm39) |
L607P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,899,456 (GRCm39) |
N153D |
probably damaging |
Het |
| Nfu1 |
A |
T |
6: 86,996,408 (GRCm39) |
T120S |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,564,699 (GRCm39) |
V341A |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,360,901 (GRCm39) |
E1148G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,117,676 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,421,949 (GRCm39) |
D998E |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,357 (GRCm39) |
Q227* |
probably null |
Het |
| Oxct2a |
T |
C |
4: 123,216,473 (GRCm39) |
I303V |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,127,185 (GRCm39) |
D58E |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,292 (GRCm39) |
V495E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,603,218 (GRCm39) |
S88R |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,044,552 (GRCm39) |
V510A |
probably benign |
Het |
| Ranbp17 |
T |
A |
11: 33,216,288 (GRCm39) |
D820V |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,733,212 (GRCm39) |
G180C |
probably damaging |
Het |
| Serpina3n |
T |
C |
12: 104,379,752 (GRCm39) |
S382P |
probably benign |
Het |
| Sestd1 |
A |
T |
2: 77,042,843 (GRCm39) |
M237K |
probably null |
Het |
| Sf3a2 |
T |
C |
10: 80,639,418 (GRCm39) |
I136T |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,580 (GRCm39) |
Y197C |
probably benign |
Het |
| Speer4b |
T |
C |
5: 27,702,893 (GRCm39) |
K204E |
probably benign |
Het |
| Speer4f1 |
A |
C |
5: 17,681,221 (GRCm39) |
E33A |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,461,147 (GRCm39) |
D3529E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,253 (GRCm39) |
D419G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,545,769 (GRCm39) |
S164G |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,359,298 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
C |
A |
8: 22,749,314 (GRCm39) |
Y667* |
probably null |
Het |
| Tnks |
A |
C |
8: 35,316,465 (GRCm39) |
Y885D |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,391,102 (GRCm39) |
I896V |
probably benign |
Het |
| Txnip |
T |
G |
3: 96,466,743 (GRCm39) |
F190C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,573,017 (GRCm39) |
D1005G |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,434,352 (GRCm39) |
|
probably null |
Het |
| Usp54 |
G |
T |
14: 20,615,060 (GRCm39) |
Q794K |
probably damaging |
Het |
| Xrn2 |
A |
G |
2: 146,903,394 (GRCm39) |
Q798R |
probably benign |
Het |
| Zfp189 |
A |
G |
4: 49,530,342 (GRCm39) |
I482V |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,396,506 (GRCm39) |
N314D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,842,221 (GRCm39) |
|
probably null |
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 |
|
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'- CGTACTGACAATGGCCACTC -3'
(R):5'- GAAGAGCACAGAGACTTCAGTC -3'
Sequencing Primer
(F):5'- GGCCACTCCACACTGTCTG -3'
(R):5'- CTGCAGAAGCTGTTGGGGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation