Mutagenetix > Incidental Mutation

Incidental Mutation 'R1335:Cdc42bpb'

156847

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpb

Ensembl Gene

ENSMUSG00000021279

Gene Name

CDC42 binding protein kinase beta

Synonyms

DMPK-like

MMRRC Submission

039400-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R1335 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

111259410-111344152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111262875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1484 (Y1484C)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000220657]

AlphaFold

Q7TT50

Predicted Effect

probably damaging
Transcript: ENSMUST00000041965
AA Change: Y1484C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: Y1484C

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: ENSMUST00000181055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220619

Predicted Effect

probably benign
Transcript: ENSMUST00000220657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222483

Predicted Effect

probably benign
Transcript: ENSMUST00000222724

Meta Mutation Damage Score

0.3427

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (32/32)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cd209d	T	A	8: 3,922,027 (GRCm39)	D185V	probably damaging	Het
Cdh9	T	C	15: 16,850,878 (GRCm39)	V549A	probably benign	Het
Cmya5	C	T	13: 93,178,043 (GRCm39)	V3604M	possibly damaging	Het
Eprs1	T	A	1: 185,119,286 (GRCm39)	W489R	probably damaging	Het
Galnt14	T	A	17: 73,833,285 (GRCm39)	I230F	probably damaging	Het
Gm19965	A	G	1: 116,732,349 (GRCm39)	K64R	possibly damaging	Het
Gpr141	T	G	13: 19,936,034 (GRCm39)	Y247S	possibly damaging	Het
Ivd	A	T	2: 118,699,923 (GRCm39)	H52L	probably benign	Het
Mcoln2	A	G	3: 145,885,929 (GRCm39)	H260R	probably benign	Het
Mdga2	T	C	12: 66,763,516 (GRCm39)		probably null	Het
Mtarc1	C	T	1: 184,536,138 (GRCm39)	R98Q	probably benign	Het
Ndrg3	T	C	2: 156,787,928 (GRCm39)		probably benign	Het
Or2l13	T	C	16: 19,305,803 (GRCm39)	Y72H	probably benign	Het
Pcdhb17	A	T	18: 37,619,287 (GRCm39)	N359I	probably damaging	Het
Phf24	G	A	4: 42,934,657 (GRCm39)	V98I	probably benign	Het
Pkhd1	C	A	1: 20,641,629 (GRCm39)	G270W	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Prss51	T	G	14: 64,333,620 (GRCm39)		probably null	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Simc1	ACCA	ACCANNNNNNNNNNNNNNNNNNCCA	13: 54,673,078 (GRCm39)		probably benign	Het
Slco1c1	T	A	6: 141,487,853 (GRCm39)	Y192N	probably damaging	Het
Smco2	T	C	6: 146,763,585 (GRCm39)		probably benign	Het
Snx13	A	G	12: 35,182,123 (GRCm39)	D724G	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Sytl4	GAAAAAA	GAAAAA	X: 132,861,875 (GRCm39)		probably benign	Het
Tnr	A	G	1: 159,695,600 (GRCm39)	T508A	probably benign	Het
Vmn1r30	A	G	6: 58,412,080 (GRCm39)	S251P	probably damaging	Het
Zdhhc16	T	A	19: 41,929,073 (GRCm39)		probably null	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
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'- TCCTCGGGAACCTTGAAGACAAAAC -3'
(R):5'- TAAAGATGACTTCTGGCACGGGAGC -3'

Sequencing Primer
(F):5'- GAAGACAAAACGTCGTTTGCTC -3'
(R):5'- GGGGTTCCATGCTTACTTGT -3'

Posted On

2014-02-11