Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Cdc42bpb'

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94213

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpb

Ensembl Gene

ENSMUSG00000021279

Gene Name

CDC42 binding protein kinase beta

Synonyms

DMPK-like

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111292976-111377718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111313353 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 932 (M932K)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041965
AA Change: M932K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: M932K

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Cdc42bpb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Cdc42bpb	APN	12	111294096	unclassified	probably benign
IGL01360:Cdc42bpb	APN	12	111342075	missense	probably damaging	1.00
IGL01577:Cdc42bpb	APN	12	111302043	missense	possibly damaging	0.71
IGL01909:Cdc42bpb	APN	12	111323142	missense	probably benign
IGL01924:Cdc42bpb	APN	12	111317453	unclassified	probably benign
IGL02428:Cdc42bpb	APN	12	111323127	missense	probably benign
IGL02678:Cdc42bpb	APN	12	111326096	missense	probably damaging	1.00
IGL02792:Cdc42bpb	APN	12	111299561	missense	probably benign
IGL03367:Cdc42bpb	APN	12	111336159	missense	probably damaging	1.00
F5770:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
PIT4585001:Cdc42bpb	UTSW	12	111304978	missense	probably damaging	1.00
R0129:Cdc42bpb	UTSW	12	111304959	intron	probably benign
R0633:Cdc42bpb	UTSW	12	111345555	missense	probably damaging	0.99
R1335:Cdc42bpb	UTSW	12	111296441	missense	probably damaging	1.00
R1459:Cdc42bpb	UTSW	12	111296300	unclassified	probably benign
R1780:Cdc42bpb	UTSW	12	111322907	missense	probably damaging	1.00
R1823:Cdc42bpb	UTSW	12	111327559	missense	probably damaging	1.00
R1843:Cdc42bpb	UTSW	12	111322821	missense	probably benign
R1902:Cdc42bpb	UTSW	12	111326016	missense	probably damaging	1.00
R1945:Cdc42bpb	UTSW	12	111299133	missense	probably damaging	1.00
R2077:Cdc42bpb	UTSW	12	111299196	missense	probably damaging	1.00
R2184:Cdc42bpb	UTSW	12	111296044	missense	probably damaging	0.99
R2208:Cdc42bpb	UTSW	12	111336029	missense	probably damaging	1.00
R2211:Cdc42bpb	UTSW	12	111301854	missense	probably benign	0.11
R2273:Cdc42bpb	UTSW	12	111302167	missense	probably damaging	1.00
R2406:Cdc42bpb	UTSW	12	111302124	missense	probably benign	0.00
R3080:Cdc42bpb	UTSW	12	111295818	missense	probably damaging	0.99
R3612:Cdc42bpb	UTSW	12	111303822	intron	probably benign
R4106:Cdc42bpb	UTSW	12	111295145	missense	probably benign	0.01
R4133:Cdc42bpb	UTSW	12	111321542	missense	probably benign	0.00
R4156:Cdc42bpb	UTSW	12	111294139	missense	probably benign	0.17
R4202:Cdc42bpb	UTSW	12	111294139	missense	probably benign	0.17
R4573:Cdc42bpb	UTSW	12	111323141	missense	probably benign	0.00
R4659:Cdc42bpb	UTSW	12	111339891	missense	probably damaging	1.00
R5101:Cdc42bpb	UTSW	12	111299115	missense	probably damaging	1.00
R5591:Cdc42bpb	UTSW	12	111323087	missense	probably benign	0.01
R5669:Cdc42bpb	UTSW	12	111302013	critical splice donor site	probably null
R5830:Cdc42bpb	UTSW	12	111345582	nonsense	probably null
R5872:Cdc42bpb	UTSW	12	111325976	missense	probably damaging	1.00
R6748:Cdc42bpb	UTSW	12	111294839	unclassified	probably benign
R6813:Cdc42bpb	UTSW	12	111327615	missense	probably damaging	1.00
R7024:Cdc42bpb	UTSW	12	111326085	missense	probably damaging	1.00
R7165:Cdc42bpb	UTSW	12	111321517	missense	probably damaging	1.00
R7228:Cdc42bpb	UTSW	12	111305093	missense	possibly damaging	0.92
R7258:Cdc42bpb	UTSW	12	111326084	missense	probably damaging	1.00
R7352:Cdc42bpb	UTSW	12	111299311	missense	probably damaging	1.00
R7361:Cdc42bpb	UTSW	12	111345605	missense	probably damaging	1.00
R7399:Cdc42bpb	UTSW	12	111305667	missense	probably benign	0.00
R7468:Cdc42bpb	UTSW	12	111339873	missense	probably damaging	1.00
R7622:Cdc42bpb	UTSW	12	111294772	missense	unknown
R7648:Cdc42bpb	UTSW	12	111377153	missense	probably damaging	1.00
R7734:Cdc42bpb	UTSW	12	111329230	missense	probably damaging	1.00
R7783:Cdc42bpb	UTSW	12	111336025	critical splice donor site	probably null
V7582:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
V7583:Cdc42bpb	UTSW	12	111296391	missense	probably benign	0.28
X0023:Cdc42bpb	UTSW	12	111326078	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCATAGCACTTTCCAGGTGAGC -3'
(R):5'- GTGGAGATGTCAGCCACACCATTC -3'

Sequencing Primer
(F):5'- CATGTGACCAGGGTAACTAACG -3'
(R):5'- GGGATTCTCCGCCATTCTTAG -3'

Posted On

2014-01-05