Incidental Mutation 'R7399:Cdc42bpb'
| ID |
574053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
045481-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.711)
|
| Stock # |
R7399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111292976-111377718 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111305667 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1104
(K1104R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041965
AA Change: K1104R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: K1104R
| 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: 99.0%
|
| Validation Efficiency |
99% (74/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,260,679 (GRCm38) |
V801G |
possibly damaging |
Het |
| Actbl2 |
T |
A |
13: 111,255,593 (GRCm38) |
M154K |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,504,466 (GRCm38) |
|
probably null |
Het |
| Arfgef1 |
T |
A |
1: 10,180,897 (GRCm38) |
T888S |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,169,060 (GRCm38) |
P10L |
possibly damaging |
Het |
| Bcap29 |
A |
G |
12: 31,630,882 (GRCm38) |
I35T |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,664,857 (GRCm38) |
254 |
probably null |
Het |
| C87499 |
C |
A |
4: 88,627,965 (GRCm38) |
R380L |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,194,654 (GRCm38) |
D458G |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,438,378 (GRCm38) |
N729S |
probably damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,991,829 (GRCm38) |
M51K |
possibly damaging |
Het |
| Dcdc2b |
A |
G |
4: 129,609,629 (GRCm38) |
L270P |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 149,036,483 (GRCm38) |
H639N |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,125,785 (GRCm38) |
E1182G |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 118,027,477 (GRCm38) |
T2385P |
probably benign |
Het |
| Dok7 |
T |
C |
5: 35,066,471 (GRCm38) |
V81A |
probably damaging |
Het |
| Dtx1 |
T |
A |
5: 120,682,393 (GRCm38) |
M494L |
possibly damaging |
Het |
| Foxj1 |
A |
T |
11: 116,332,254 (GRCm38) |
L241Q |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,236,149 (GRCm38) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 24,003,880 (GRCm38) |
T201S |
probably benign |
Het |
| Jup |
G |
T |
11: 100,378,351 (GRCm38) |
T412K |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,322,059 (GRCm38) |
S954F |
probably damaging |
Het |
| Klhdc7b |
A |
C |
15: 89,388,644 (GRCm38) |
K585T |
possibly damaging |
Het |
| Klk7 |
T |
A |
7: 43,812,000 (GRCm38) |
S14T |
probably benign |
Het |
| Lama4 |
G |
A |
10: 39,047,948 (GRCm38) |
E451K |
probably damaging |
Het |
| Ldhb |
A |
G |
6: 142,495,673 (GRCm38) |
C164R |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,610,090 (GRCm38) |
D239N |
|
Het |
| Mgam |
T |
A |
6: 40,666,854 (GRCm38) |
V572E |
probably damaging |
Het |
| Mrgprb2 |
G |
T |
7: 48,552,142 (GRCm38) |
N278K |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,911,823 (GRCm38) |
Y206H |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,262,291 (GRCm38) |
S467G |
unknown |
Het |
| Mysm1 |
T |
A |
4: 94,961,727 (GRCm38) |
I447L |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,852,934 (GRCm38) |
E494G |
possibly damaging |
Het |
| Nol10 |
T |
G |
12: 17,402,173 (GRCm38) |
V376G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,214,676 (GRCm38) |
I1032N |
probably damaging |
Het |
| Olfr1002 |
T |
A |
2: 85,647,424 (GRCm38) |
D299V |
possibly damaging |
Het |
| Olfr1100 |
G |
A |
2: 86,978,157 (GRCm38) |
T213I |
probably benign |
Het |
| Olfr1170 |
A |
T |
2: 88,225,022 (GRCm38) |
Y3* |
probably null |
Het |
| Olfr1450 |
A |
G |
19: 12,954,447 (GRCm38) |
N286S |
probably damaging |
Het |
| Olfr449 |
T |
G |
6: 42,838,746 (GRCm38) |
Y288* |
probably null |
Het |
| Olfr455 |
A |
G |
6: 42,538,728 (GRCm38) |
F98S |
possibly damaging |
Het |
| Olfr617 |
A |
T |
7: 103,584,381 (GRCm38) |
I120L |
possibly damaging |
Het |
| Olfr782 |
A |
T |
10: 129,350,557 (GRCm38) |
|
probably benign |
Het |
| Olfr996 |
A |
G |
2: 85,579,296 (GRCm38) |
D19G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 144,195,281 (GRCm38) |
K254E |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,236,279 (GRCm38) |
D694E |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,293,510 (GRCm38) |
Y1210N |
probably benign |
Het |
| Pdxk |
T |
C |
10: 78,440,863 (GRCm38) |
M293V |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,962,867 (GRCm38) |
I451V |
probably benign |
Het |
| Plekhm2 |
A |
G |
4: 141,634,376 (GRCm38) |
F272S |
probably damaging |
Het |
| Ptgdr |
A |
T |
14: 44,858,232 (GRCm38) |
|
probably null |
Het |
| Ptprf |
C |
T |
4: 118,226,523 (GRCm38) |
V788I |
probably benign |
Het |
| Ralbp1 |
C |
T |
17: 65,854,148 (GRCm38) |
V467I |
probably benign |
Het |
| Ralgds |
A |
C |
2: 28,543,655 (GRCm38) |
Q229P |
possibly damaging |
Het |
| Recql |
T |
C |
6: 142,374,884 (GRCm38) |
D146G |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,051,367 (GRCm38) |
N493S |
probably damaging |
Het |
| Rfxank |
C |
T |
8: 70,135,286 (GRCm38) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,486,530 (GRCm38) |
M1704K |
probably damaging |
Het |
| Slc7a7 |
G |
T |
14: 54,374,268 (GRCm38) |
A316E |
possibly damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,091,068 (GRCm38) |
C538S |
probably benign |
Het |
| Spert |
A |
G |
14: 75,592,637 (GRCm38) |
S39P |
probably benign |
Het |
| Stard6 |
T |
C |
18: 70,498,647 (GRCm38) |
|
probably null |
Het |
| Strip2 |
T |
A |
6: 29,927,613 (GRCm38) |
M219K |
possibly damaging |
Het |
| Tcam1 |
T |
C |
11: 106,284,085 (GRCm38) |
V122A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,869,690 (GRCm38) |
V236A |
possibly damaging |
Het |
| Tmem201 |
A |
T |
4: 149,731,097 (GRCm38) |
I132N |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 64,020,657 (GRCm38) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,845,513 (GRCm38) |
T25A |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,244,503 (GRCm38) |
|
probably null |
Het |
| Wdfy4 |
A |
C |
14: 33,068,906 (GRCm38) |
V2188G |
|
Het |
| Zfp623 |
T |
C |
15: 75,947,398 (GRCm38) |
S68P |
probably damaging |
Het |
| Zfp950 |
A |
T |
19: 61,119,155 (GRCm38) |
C497S |
probably damaging |
Het |
| Zkscan2 |
C |
T |
7: 123,480,104 (GRCm38) |
E877K |
probably damaging |
Het |
| Zp3r |
C |
A |
1: 130,577,053 (GRCm38) |
V536L |
probably damaging |
Het |
|
| Other mutations in Cdc42bpb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Cdc42bpb
|
APN |
12 |
111,294,096 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01360:Cdc42bpb
|
APN |
12 |
111,342,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01577:Cdc42bpb
|
APN |
12 |
111,302,043 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01909:Cdc42bpb
|
APN |
12 |
111,323,142 (GRCm38) |
missense |
probably benign |
|
|
IGL01924:Cdc42bpb
|
APN |
12 |
111,317,453 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02428:Cdc42bpb
|
APN |
12 |
111,323,127 (GRCm38) |
missense |
probably benign |
|
|
IGL02678:Cdc42bpb
|
APN |
12 |
111,326,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02792:Cdc42bpb
|
APN |
12 |
111,299,561 (GRCm38) |
missense |
probably benign |
|
|
IGL03367:Cdc42bpb
|
APN |
12 |
111,336,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
PIT4585001:Cdc42bpb
|
UTSW |
12 |
111,304,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0129:Cdc42bpb
|
UTSW |
12 |
111,304,959 (GRCm38) |
intron |
probably benign |
|
|
R0633:Cdc42bpb
|
UTSW |
12 |
111,345,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1054:Cdc42bpb
|
UTSW |
12 |
111,313,353 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1335:Cdc42bpb
|
UTSW |
12 |
111,296,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1459:Cdc42bpb
|
UTSW |
12 |
111,296,300 (GRCm38) |
unclassified |
probably benign |
|
|
R1780:Cdc42bpb
|
UTSW |
12 |
111,322,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1823:Cdc42bpb
|
UTSW |
12 |
111,327,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1843:Cdc42bpb
|
UTSW |
12 |
111,322,821 (GRCm38) |
missense |
probably benign |
|
|
R1902:Cdc42bpb
|
UTSW |
12 |
111,326,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1945:Cdc42bpb
|
UTSW |
12 |
111,299,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2077:Cdc42bpb
|
UTSW |
12 |
111,299,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Cdc42bpb
|
UTSW |
12 |
111,296,044 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2208:Cdc42bpb
|
UTSW |
12 |
111,336,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2211:Cdc42bpb
|
UTSW |
12 |
111,301,854 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2273:Cdc42bpb
|
UTSW |
12 |
111,302,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2406:Cdc42bpb
|
UTSW |
12 |
111,302,124 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3080:Cdc42bpb
|
UTSW |
12 |
111,295,818 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3612:Cdc42bpb
|
UTSW |
12 |
111,303,822 (GRCm38) |
intron |
probably benign |
|
|
R4106:Cdc42bpb
|
UTSW |
12 |
111,295,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4133:Cdc42bpb
|
UTSW |
12 |
111,321,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4156:Cdc42bpb
|
UTSW |
12 |
111,294,139 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4202:Cdc42bpb
|
UTSW |
12 |
111,294,139 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4573:Cdc42bpb
|
UTSW |
12 |
111,323,141 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4659:Cdc42bpb
|
UTSW |
12 |
111,339,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5101:Cdc42bpb
|
UTSW |
12 |
111,299,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5591:Cdc42bpb
|
UTSW |
12 |
111,323,087 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5669:Cdc42bpb
|
UTSW |
12 |
111,302,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5830:Cdc42bpb
|
UTSW |
12 |
111,345,582 (GRCm38) |
nonsense |
probably null |
|
|
R5872:Cdc42bpb
|
UTSW |
12 |
111,325,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6748:Cdc42bpb
|
UTSW |
12 |
111,294,839 (GRCm38) |
unclassified |
probably benign |
|
|
R6813:Cdc42bpb
|
UTSW |
12 |
111,327,615 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7024:Cdc42bpb
|
UTSW |
12 |
111,326,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7165:Cdc42bpb
|
UTSW |
12 |
111,321,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7228:Cdc42bpb
|
UTSW |
12 |
111,305,093 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7258:Cdc42bpb
|
UTSW |
12 |
111,326,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7352:Cdc42bpb
|
UTSW |
12 |
111,299,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7361:Cdc42bpb
|
UTSW |
12 |
111,345,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7468:Cdc42bpb
|
UTSW |
12 |
111,339,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7622:Cdc42bpb
|
UTSW |
12 |
111,294,772 (GRCm38) |
missense |
unknown |
|
|
R7648:Cdc42bpb
|
UTSW |
12 |
111,377,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7734:Cdc42bpb
|
UTSW |
12 |
111,329,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7783:Cdc42bpb
|
UTSW |
12 |
111,336,025 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8738:Cdc42bpb
|
UTSW |
12 |
111,307,787 (GRCm38) |
missense |
probably benign |
0.42 |
|
R9111:Cdc42bpb
|
UTSW |
12 |
111,318,469 (GRCm38) |
missense |
probably benign |
|
|
R9168:Cdc42bpb
|
UTSW |
12 |
111,320,083 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9506:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9510:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9511:Cdc42bpb
|
UTSW |
12 |
111,294,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9542:Cdc42bpb
|
UTSW |
12 |
111,302,074 (GRCm38) |
nonsense |
probably null |
|
|
R9563:Cdc42bpb
|
UTSW |
12 |
111,299,328 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9758:Cdc42bpb
|
UTSW |
12 |
111,299,349 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
V7582:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
V7583:Cdc42bpb
|
UTSW |
12 |
111,296,391 (GRCm38) |
missense |
probably benign |
0.28 |
|
X0023:Cdc42bpb
|
UTSW |
12 |
111,326,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGTCCAAAGGGTCTCTC -3'
(R):5'- CAAAACACCCTCTTGTGCTCTG -3'
Sequencing Primer
(F):5'- CGGGTTCTTAGCCATTTACAGCAG -3'
(R):5'- CTACGGGTCTTGAGCATGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation