Incidental Mutation 'R9542:Cdc42bpb'
ID |
719953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc42bpb
|
Ensembl Gene |
ENSMUSG00000021279 |
Gene Name |
CDC42 binding protein kinase beta |
Synonyms |
DMPK-like |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.612)
|
Stock # |
R9542 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
111259410-111344152 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 111268508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 1231
(Q1231*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041965]
|
AlphaFold |
Q7TT50 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041965
AA Change: Q1231*
|
SMART Domains |
Protein: ENSMUSP00000042565 Gene: ENSMUSG00000021279 AA Change: Q1231*
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: 99.3%
- 20x: 97.4%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd6 |
T |
C |
1: 155,443,356 (GRCm39) |
S105P |
probably benign |
Het |
Acot12 |
G |
A |
13: 91,931,110 (GRCm39) |
V453M |
probably damaging |
Het |
Actr2 |
C |
T |
11: 20,044,350 (GRCm39) |
M85I |
probably benign |
Het |
Anxa9 |
T |
C |
3: 95,210,379 (GRCm39) |
D62G |
probably benign |
Het |
Arnt |
C |
T |
3: 95,397,954 (GRCm39) |
A599V |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,950,566 (GRCm39) |
E2153G |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,911,850 (GRCm39) |
T149S |
probably benign |
Het |
Atcay |
G |
A |
10: 81,043,686 (GRCm39) |
T353I |
unknown |
Het |
Aven |
T |
C |
2: 112,455,517 (GRCm39) |
F143L |
probably damaging |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
BC024139 |
T |
A |
15: 76,009,715 (GRCm39) |
L149F |
probably damaging |
Het |
C3 |
T |
C |
17: 57,532,037 (GRCm39) |
Y228C |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,845,316 (GRCm39) |
F640L |
probably benign |
Het |
Ccdc187 |
T |
C |
2: 26,145,930 (GRCm39) |
R1220G |
possibly damaging |
Het |
Cdh20 |
T |
A |
1: 104,875,067 (GRCm39) |
V283E |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,484,533 (GRCm39) |
I241V |
probably benign |
Het |
Dis3 |
A |
G |
14: 99,316,975 (GRCm39) |
V787A |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,864,775 (GRCm39) |
F727S |
probably damaging |
Het |
Eif5b |
G |
T |
1: 38,057,131 (GRCm39) |
E63* |
probably null |
Het |
Fanca |
A |
G |
8: 124,023,078 (GRCm39) |
V553A |
probably damaging |
Het |
Flacc1 |
C |
T |
1: 58,717,504 (GRCm39) |
A136T |
probably benign |
Het |
Gm37240 |
A |
C |
3: 84,417,196 (GRCm39) |
H174Q |
probably benign |
Het |
Kcnc4 |
C |
T |
3: 107,365,571 (GRCm39) |
W212* |
probably null |
Het |
Myh2 |
G |
A |
11: 67,072,002 (GRCm39) |
E577K |
possibly damaging |
Het |
Ncoa1 |
C |
T |
12: 4,325,178 (GRCm39) |
V967I |
possibly damaging |
Het |
Nmur2 |
T |
C |
11: 55,931,649 (GRCm39) |
T21A |
probably damaging |
Het |
Nrde2 |
A |
G |
12: 100,110,426 (GRCm39) |
C197R |
probably damaging |
Het |
Or2m12 |
A |
T |
16: 19,104,943 (GRCm39) |
D183E |
probably benign |
Het |
Or2o1 |
C |
A |
11: 49,051,073 (GRCm39) |
C77* |
probably null |
Het |
Or52ad1 |
T |
C |
7: 102,995,569 (GRCm39) |
I189V |
probably benign |
Het |
Or8h7 |
G |
T |
2: 86,720,813 (GRCm39) |
H235Q |
probably benign |
Het |
Pard3b |
C |
T |
1: 62,250,786 (GRCm39) |
R572* |
probably null |
Het |
Pdcd6ip |
T |
C |
9: 113,520,589 (GRCm39) |
S132G |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,149,235 (GRCm39) |
F364L |
probably benign |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pgr |
G |
T |
9: 8,901,532 (GRCm39) |
C355F |
possibly damaging |
Het |
Pkhd1 |
T |
G |
1: 20,188,004 (GRCm39) |
S3435R |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,284 (GRCm39) |
D2597G |
probably benign |
Het |
Pramel30 |
T |
C |
4: 144,057,095 (GRCm39) |
Y93H |
possibly damaging |
Het |
Prrc2c |
T |
C |
1: 162,508,359 (GRCm39) |
E2410G |
possibly damaging |
Het |
Rpap2 |
C |
G |
5: 107,768,180 (GRCm39) |
S339R |
probably benign |
Het |
Rrp36 |
G |
C |
17: 46,983,492 (GRCm39) |
R69G |
possibly damaging |
Het |
Rrp8 |
T |
C |
7: 105,382,606 (GRCm39) |
T449A |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,366,860 (GRCm39) |
D54G |
probably damaging |
Het |
Serinc2 |
C |
T |
4: 130,152,516 (GRCm39) |
W228* |
probably null |
Het |
Serpinb9g |
A |
G |
13: 33,679,141 (GRCm39) |
K337R |
probably benign |
Het |
Slc28a2b |
A |
T |
2: 122,324,822 (GRCm39) |
K131N |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,070,077 (GRCm39) |
I742F |
probably damaging |
Het |
Speg |
C |
T |
1: 75,399,426 (GRCm39) |
P2291L |
probably benign |
Het |
Ss18l2 |
T |
A |
9: 121,541,666 (GRCm39) |
L61* |
probably null |
Het |
Suco |
C |
T |
1: 161,661,668 (GRCm39) |
R921H |
probably damaging |
Het |
Taok2 |
A |
T |
7: 126,466,008 (GRCm39) |
I910N |
probably damaging |
Het |
Tmem18 |
G |
A |
12: 30,638,557 (GRCm39) |
M106I |
|
Het |
Tob1 |
T |
G |
11: 94,105,234 (GRCm39) |
S257A |
unknown |
Het |
Trim67 |
G |
C |
8: 125,521,497 (GRCm39) |
K286N |
possibly damaging |
Het |
Trmt112 |
A |
G |
19: 6,887,956 (GRCm39) |
N62S |
probably benign |
Het |
Tsc2 |
C |
T |
17: 24,819,308 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ube2j1 |
G |
T |
4: 33,040,793 (GRCm39) |
E100* |
probably null |
Het |
Urgcp |
A |
T |
11: 5,667,517 (GRCm39) |
F317I |
possibly damaging |
Het |
Vps9d1 |
A |
T |
8: 123,970,522 (GRCm39) |
D588E |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,890,210 (GRCm39) |
T115S |
probably damaging |
Het |
Zfp119a |
G |
A |
17: 56,172,593 (GRCm39) |
Q417* |
probably null |
Het |
Zfp687 |
C |
T |
3: 94,916,442 (GRCm39) |
C860Y |
probably damaging |
Het |
Zmym4 |
T |
C |
4: 126,799,164 (GRCm39) |
N724S |
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 |
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 |
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 |
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'- TCTGGGGAAACAACGTGTG -3'
(R):5'- GCTGGCAGCTCATGATTTTGTC -3'
Sequencing Primer
(F):5'- AAACAACGTGTGGGTCCC -3'
(R):5'- CAGCTCATGATTTTGTCTGTTTTG -3'
|
Posted On |
2022-07-18 |