Incidental Mutation 'R0129:Cdc42bpb'
| ID |
21586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
038414-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R0129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 111271393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041965
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
| 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: ENSMUST00000220619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222724
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.7%
- 10x: 92.2%
- 20x: 74.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
G |
18: 74,920,265 (GRCm39) |
D31G |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,050,939 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,862 (GRCm39) |
C764R |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,410,976 (GRCm39) |
F171C |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,336,395 (GRCm39) |
F408S |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,474,163 (GRCm39) |
L26P |
probably damaging |
Het |
| Appl1 |
A |
T |
14: 26,650,600 (GRCm39) |
M524K |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,635,370 (GRCm39) |
I922N |
probably damaging |
Het |
| Atp5pd |
T |
C |
11: 115,308,744 (GRCm39) |
E47G |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,835,755 (GRCm39) |
D70G |
probably benign |
Het |
| Bola2 |
G |
A |
7: 126,295,731 (GRCm39) |
V56M |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,944,918 (GRCm39) |
|
probably null |
Het |
| Ceacam20 |
A |
G |
7: 19,710,185 (GRCm39) |
N403S |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,391,847 (GRCm39) |
M662V |
probably benign |
Het |
| Chd3 |
C |
A |
11: 69,239,327 (GRCm39) |
E1607* |
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,946,285 (GRCm39) |
Y9* |
probably null |
Het |
| Clta |
A |
G |
4: 44,032,424 (GRCm39) |
N200S |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 16,129,956 (GRCm39) |
S1722F |
possibly damaging |
Het |
| Cyria |
C |
T |
12: 12,412,350 (GRCm39) |
T204I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,800,576 (GRCm39) |
S905P |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,546,343 (GRCm39) |
K1347R |
probably damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,441 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
G |
T |
7: 105,370,131 (GRCm39) |
A4519S |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,838,466 (GRCm39) |
C1120R |
probably benign |
Het |
| Efs |
C |
T |
14: 55,154,680 (GRCm39) |
A427T |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,531,799 (GRCm39) |
E399G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,225,083 (GRCm39) |
T1431A |
probably benign |
Het |
| Fam184b |
A |
G |
5: 45,690,120 (GRCm39) |
S830P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,355,357 (GRCm39) |
C2203S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,326,637 (GRCm39) |
V120M |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,546,503 (GRCm39) |
T1026I |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,345,658 (GRCm39) |
I394T |
probably benign |
Het |
| Ldlrap1 |
A |
C |
4: 134,484,733 (GRCm39) |
V87G |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,580,403 (GRCm39) |
V155I |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,116,933 (GRCm39) |
N116I |
probably damaging |
Het |
| Lonp2 |
C |
T |
8: 87,361,518 (GRCm39) |
R232C |
probably damaging |
Het |
| Lrch1 |
C |
A |
14: 75,073,186 (GRCm39) |
C151F |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,812 (GRCm39) |
Y579C |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,327,068 (GRCm39) |
S4808G |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,513,494 (GRCm39) |
K501N |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,165,337 (GRCm39) |
R1523L |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,312,914 (GRCm39) |
|
probably benign |
Het |
| Mul1 |
T |
C |
4: 138,165,032 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,901,411 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
G |
C |
2: 26,350,470 (GRCm39) |
H2223Q |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,053,936 (GRCm39) |
L2200M |
probably benign |
Het |
| Odad3 |
G |
T |
9: 21,904,848 (GRCm39) |
R313S |
probably damaging |
Het |
| Or10ak8 |
A |
T |
4: 118,774,667 (GRCm39) |
|
probably null |
Het |
| Or12k5 |
G |
A |
2: 36,895,057 (GRCm39) |
R190* |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,196 (GRCm39) |
F206L |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,236 (GRCm39) |
Y113C |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,722 (GRCm39) |
|
probably null |
Het |
| Ppm1h |
G |
A |
10: 122,777,260 (GRCm39) |
G509R |
probably damaging |
Het |
| Ppp2r3c |
C |
T |
12: 55,345,207 (GRCm39) |
E94K |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,509,164 (GRCm39) |
I372F |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 162,119,990 (GRCm39) |
T159I |
probably benign |
Het |
| Rab20 |
A |
G |
8: 11,504,415 (GRCm39) |
F95S |
probably damaging |
Het |
| Rfc3 |
A |
C |
5: 151,574,616 (GRCm39) |
M1R |
probably null |
Het |
| Skp2 |
A |
G |
15: 9,125,280 (GRCm39) |
S100P |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,540 (GRCm39) |
S269P |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,432,352 (GRCm39) |
T684S |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,782 (GRCm39) |
K355E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,610,903 (GRCm39) |
K355N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,750,800 (GRCm39) |
|
probably benign |
Het |
| Tsfm |
A |
G |
10: 126,866,339 (GRCm39) |
L74P |
probably benign |
Het |
| Ttn |
G |
C |
2: 76,564,609 (GRCm39) |
N28509K |
probably damaging |
Het |
| Ube2l6 |
G |
A |
2: 84,629,252 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r80 |
T |
A |
10: 79,005,330 (GRCm39) |
H322Q |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,706,441 (GRCm39) |
S212T |
probably benign |
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 |
|
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 |
|
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'- TGTATGGAACACTGCCACTGCTG -3'
(R):5'- GGATGAACGTGCTCACTGTTGGTC -3'
Sequencing Primer
(F):5'- TTGCAGCTCTCTGAAGGAAC -3'
(R):5'- TCTGTAGGTCCCAAAGCCC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation