Incidental Mutation 'R7024:Cdc42bpb'
| ID |
545855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
045125-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R7024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111292519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 339
(H339Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041965
AA Change: H339Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: H339Y
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (61/63) |
| 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 |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,108 (GRCm39) |
S128P |
probably damaging |
Het |
| Abcc1 |
G |
C |
16: 14,231,247 (GRCm39) |
|
probably null |
Het |
| Atg2a |
G |
A |
19: 6,300,249 (GRCm39) |
G686S |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,626,882 (GRCm39) |
|
probably null |
Het |
| Brd4 |
T |
C |
17: 32,440,884 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,658,242 (GRCm39) |
E688G |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,891,271 (GRCm39) |
S1402R |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,922,888 (GRCm39) |
|
probably null |
Het |
| Ciart |
T |
A |
3: 95,786,392 (GRCm39) |
T94S |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,789,674 (GRCm39) |
K1540* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,574,387 (GRCm39) |
V1969E |
probably damaging |
Het |
| Dgka |
T |
G |
10: 128,556,356 (GRCm39) |
N710T |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,731,666 (GRCm39) |
V1212A |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,278 (GRCm39) |
V116A |
possibly damaging |
Het |
| En1 |
C |
T |
1: 120,531,051 (GRCm39) |
P97L |
unknown |
Het |
| Esd |
T |
A |
14: 74,982,102 (GRCm39) |
F172L |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,914,942 (GRCm39) |
D34Y |
probably damaging |
Het |
| Gm2832 |
G |
A |
14: 41,001,696 (GRCm39) |
M68I |
|
Het |
| Hmgcr |
A |
G |
13: 96,795,418 (GRCm39) |
S384P |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,546 (GRCm39) |
T299A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,122 (GRCm39) |
M353T |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,099,306 (GRCm39) |
T211A |
probably benign |
Het |
| Lamb2 |
C |
A |
9: 108,366,687 (GRCm39) |
T1607K |
probably benign |
Het |
| Lhfpl5 |
A |
G |
17: 28,801,957 (GRCm39) |
E218G |
probably benign |
Het |
| Lpo |
C |
A |
11: 87,707,269 (GRCm39) |
C248F |
probably damaging |
Het |
| Lrrc3 |
C |
T |
10: 77,736,825 (GRCm39) |
D204N |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,085,051 (GRCm39) |
L160I |
probably benign |
Het |
| Morn4 |
C |
T |
19: 42,066,483 (GRCm39) |
D35N |
possibly damaging |
Het |
| Mroh8 |
G |
A |
2: 157,063,183 (GRCm39) |
H813Y |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,390 (GRCm39) |
E59G |
probably damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,119,201 (GRCm39) |
E173V |
probably null |
Het |
| Nlrp10 |
T |
A |
7: 108,524,405 (GRCm39) |
E358D |
possibly damaging |
Het |
| Odad2 |
A |
C |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Optn |
T |
C |
2: 5,057,648 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
G |
2: 87,188,066 (GRCm39) |
T93A |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,759 (GRCm39) |
I49T |
possibly damaging |
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,332 (GRCm39) |
L94* |
probably null |
Het |
| Or1o1 |
T |
C |
17: 37,717,095 (GRCm39) |
F219L |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,551,952 (GRCm39) |
F68I |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,579 (GRCm39) |
E24G |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,169,204 (GRCm39) |
H1331L |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,649,920 (GRCm39) |
M357K |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,284,555 (GRCm39) |
C140G |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,818,835 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,681,826 (GRCm39) |
N41S |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,407 (GRCm39) |
S532P |
probably benign |
Het |
| S100a3 |
T |
A |
3: 90,509,747 (GRCm39) |
|
probably null |
Het |
| Sfrp5 |
T |
C |
19: 42,190,204 (GRCm39) |
K83E |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,780,434 (GRCm39) |
I119V |
probably benign |
Het |
| Snx15 |
T |
A |
19: 6,170,626 (GRCm39) |
Q271L |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,178,605 (GRCm39) |
S1128I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,308,211 (GRCm39) |
F85I |
probably damaging |
Het |
| Thoc7 |
A |
G |
14: 13,953,528 (GRCm38) |
Y46H |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,297 (GRCm39) |
Y366F |
probably damaging |
Het |
| Trpv2 |
C |
A |
11: 62,475,287 (GRCm39) |
S233R |
probably benign |
Het |
| Vav1 |
C |
A |
17: 57,586,268 (GRCm39) |
T24N |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,686,583 (GRCm39) |
|
probably null |
Het |
| Wdr3 |
A |
G |
3: 100,062,313 (GRCm39) |
S201P |
probably benign |
Het |
| Wfs1 |
C |
T |
5: 37,124,294 (GRCm39) |
D866N |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,687 (GRCm39) |
|
probably benign |
Het |
| Xpot |
G |
T |
10: 121,438,304 (GRCm39) |
Q762K |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly 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 |
|
|
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 |
|
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'- CAGTAGACAGCAGCAGACACTG -3'
(R):5'- GATGAAGTCAGGATTATTCTTGTGC -3'
Sequencing Primer
(F):5'- TGCTGACTCAGACCCACCATG -3'
(R):5'- AAGTCAGGATTATTCTTGTGCTGTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation