Incidental Mutation 'R7783:Cdc42bpb'
| ID |
599397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc42bpb
|
| Ensembl Gene |
ENSMUSG00000021279 |
| Gene Name |
CDC42 binding protein kinase beta |
| Synonyms |
DMPK-like |
| MMRRC Submission |
045839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R7783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 111302459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
[ENSMUST00000222196]
|
| AlphaFold |
Q7TT50 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000222196
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,875 (GRCm39) |
Y447* |
probably null |
Het |
| Abl2 |
T |
C |
1: 156,386,641 (GRCm39) |
V8A |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,900,257 (GRCm39) |
R103K |
unknown |
Het |
| Adamts13 |
G |
T |
2: 26,880,597 (GRCm39) |
A727S |
not run |
Het |
| Ajm1 |
A |
T |
2: 25,467,820 (GRCm39) |
L697Q |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,439,325 (GRCm39) |
C689* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,414 (GRCm39) |
Q60* |
probably null |
Het |
| Ankrd12 |
A |
G |
17: 66,334,245 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,428,770 (GRCm39) |
N920K |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,359 (GRCm39) |
L390P |
probably damaging |
Het |
| Arvcf |
T |
G |
16: 18,207,063 (GRCm39) |
H7Q |
probably benign |
Het |
| Asns |
A |
G |
6: 7,677,978 (GRCm39) |
S367P |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,037,192 (GRCm39) |
H562L |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,327,334 (GRCm39) |
D37G |
probably damaging |
Het |
| Cdc14a |
C |
T |
3: 116,198,236 (GRCm39) |
A58T |
probably damaging |
Het |
| Cilk1 |
G |
T |
9: 78,042,927 (GRCm39) |
V51F |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,458,967 (GRCm39) |
F1068L |
probably benign |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Ercc3 |
T |
A |
18: 32,381,296 (GRCm39) |
S371T |
probably damaging |
Het |
| Fam193a |
A |
C |
5: 34,588,524 (GRCm39) |
K358Q |
probably damaging |
Het |
| Fem1a |
G |
A |
17: 56,564,522 (GRCm39) |
C205Y |
probably benign |
Het |
| Fh1 |
G |
A |
1: 175,439,744 (GRCm39) |
T233M |
probably damaging |
Het |
| Ftsj3 |
CCTTCTTCTTCTTCTTCT |
CCTTCTTCTTCTTCT |
11: 106,143,377 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
T |
C |
11: 42,207,289 (GRCm39) |
N265S |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm6 |
T |
A |
11: 50,753,909 (GRCm39) |
C738S |
probably damaging |
Het |
| Gtsf1 |
C |
T |
15: 103,336,996 (GRCm39) |
|
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,140,196 (GRCm39) |
Y364F |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,336 (GRCm39) |
I374V |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,677,785 (GRCm39) |
F250L |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,458,807 (GRCm39) |
V37A |
probably benign |
Het |
| Izumo3 |
A |
T |
4: 92,033,260 (GRCm39) |
I182K |
probably damaging |
Het |
| Kidins220 |
G |
A |
12: 25,038,555 (GRCm39) |
A36T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,236 (GRCm39) |
R231L |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,183 (GRCm39) |
S678C |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,272,288 (GRCm39) |
F629C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,411,078 (GRCm39) |
H1341Q |
unknown |
Het |
| Or13a28 |
A |
G |
7: 140,217,637 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,099 (GRCm39) |
D124E |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,219,029 (GRCm39) |
S264G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,776 (GRCm39) |
T238S |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,995,296 (GRCm39) |
H323R |
probably benign |
Het |
| Parm1 |
A |
T |
5: 91,741,724 (GRCm39) |
M31L |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,874 (GRCm39) |
C68Y |
probably benign |
Het |
| Pkn3 |
A |
T |
2: 29,969,634 (GRCm39) |
E35V |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,748,495 (GRCm39) |
Y238N |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,678,097 (GRCm39) |
D122G |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,570,409 (GRCm39) |
A331S |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,505,851 (GRCm39) |
V1037A |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,953,588 (GRCm39) |
V766A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,825,953 (GRCm39) |
T87A |
|
Het |
| St3gal3 |
T |
C |
4: 117,797,320 (GRCm39) |
M308V |
probably benign |
Het |
| Stx19 |
T |
C |
16: 62,642,649 (GRCm39) |
L155S |
probably benign |
Het |
| Tespa1 |
A |
T |
10: 130,192,752 (GRCm39) |
T145S |
probably damaging |
Het |
| Timm21 |
A |
C |
18: 84,965,846 (GRCm39) |
F221V |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,082,264 (GRCm39) |
F771Y |
probably damaging |
Het |
| Tmem150a |
C |
A |
6: 72,335,606 (GRCm39) |
L125I |
unknown |
Het |
| Try4 |
T |
C |
6: 41,279,229 (GRCm39) |
L4P |
possibly damaging |
Het |
| Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
| Txndc16 |
A |
T |
14: 45,382,417 (GRCm39) |
N609K |
probably benign |
Het |
| Upf1 |
T |
C |
8: 70,805,508 (GRCm39) |
T46A |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,411,626 (GRCm39) |
N184D |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,228,047 (GRCm39) |
V1854A |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,795 (GRCm39) |
C259S |
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 |
|
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 |
|
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'- GCTCAGGTTGTGATGGGAAAC -3'
(R):5'- GACAGCTTCTAGGGTAGCTAAC -3'
Sequencing Primer
(F):5'- TGTGATGGGAAACACAACTCTG -3'
(R):5'- GAGGTCCGCTGTTAAGAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation