Incidental Mutation 'R7228:Cdc42bpb'
| ID |
562302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
045300-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.612)
|
| Stock # |
R7228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111271527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1111
(V1111M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041965
AA Change: V1111M
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: V1111M
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
| Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
| Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
| Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,148,553 (GRCm39) |
N83I |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
| Crot |
T |
A |
5: 9,026,051 (GRCm39) |
N312I |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
| Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
| Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
| Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
| Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
| Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
| Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
| Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
| Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
| Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
| Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
| Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
| Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
| Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
| Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
| Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
| Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
| Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
| Trim2 |
T |
C |
3: 84,099,488 (GRCm39) |
D228G |
probably benign |
Het |
| Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
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 |
|
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'- GGTGAGCATTTGGTACCAGG -3'
(R):5'- TAACAAGCTCCTCCCATTCAGG -3'
Sequencing Primer
(F):5'- CAGGCAGTGCTTTGTTACATGAACC -3'
(R):5'- AGGACAAGGGCTTTTCTACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation