Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Cdc42bpb'

178017

Institutional Source

Beutler Lab

Gene Symbol

Cdc42bpb

Ensembl Gene

ENSMUSG00000021279

Gene Name

CDC42 binding protein kinase beta

Synonyms

DMPK-like

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111259410-111344152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111262825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1501 (G1501S)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

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

AlphaFold

Q7TT50

Predicted Effect

probably benign
Transcript: ENSMUST00000041965
AA Change: G1501S

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: G1501S

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

0.0873

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	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
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
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

Posted On

2014-05-07