Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02428:Cdc42bpb'

292999

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02428

Quality Score

Status

Chromosome

Chromosomal Location

111259410-111344152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111289561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 423 (T423A)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

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

AlphaFold

Q7TT50

Predicted Effect

probably benign
Transcript: ENSMUST00000041965
AA Change: T423A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: T423A

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

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	C	14: 32,110,205 (GRCm39)		probably benign	Het
AB124611	C	T	9: 21,440,221 (GRCm39)	S69L	possibly damaging	Het
Abca6	G	A	11: 110,069,618 (GRCm39)	A1566V	possibly damaging	Het
Ahnak	A	G	19: 8,992,197 (GRCm39)	I4494V	possibly damaging	Het
Ascc3	T	A	10: 50,721,791 (GRCm39)	Y2081*	probably null	Het
Cdh6	T	A	15: 13,064,516 (GRCm39)	I125F	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,368,609 (GRCm39)	L1845P	possibly damaging	Het
Epha4	A	G	1: 77,483,385 (GRCm39)	V208A	possibly damaging	Het
Fanci	A	G	7: 79,094,264 (GRCm39)		probably benign	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Flnc	A	G	6: 29,451,484 (GRCm39)	D1566G	probably damaging	Het
Gm11565	A	G	11: 99,805,811 (GRCm39)	T68A	probably benign	Het
Ifng	G	A	10: 118,281,159 (GRCm39)	R154H	probably damaging	Het
Il1r1	G	A	1: 40,352,392 (GRCm39)	E521K	possibly damaging	Het
Irf3	G	T	7: 44,648,163 (GRCm39)	L9F	probably damaging	Het
Jade1	T	G	3: 41,568,374 (GRCm39)	I814S	probably benign	Het
Kcnh1	G	A	1: 192,019,851 (GRCm39)	W365*	probably null	Het
Kif16b	T	C	2: 142,514,280 (GRCm39)	T1209A	possibly damaging	Het
Mcur1	A	T	13: 43,695,203 (GRCm39)	S324T	probably damaging	Het
Mgat2	C	A	12: 69,231,558 (GRCm39)	A44E	probably benign	Het
Nox1	A	G	X: 133,008,583 (GRCm39)		probably benign	Het
Oga	A	T	19: 45,753,940 (GRCm39)	W645R	probably damaging	Het
Or52ae7	A	T	7: 103,119,590 (GRCm39)	I115F	probably benign	Het
Or5ak23	A	G	2: 85,244,537 (GRCm39)	S229P	probably benign	Het
Pcnt	A	T	10: 76,265,090 (GRCm39)	I340N	probably damaging	Het
Pde11a	T	C	2: 75,877,189 (GRCm39)	E760G	possibly damaging	Het
Per3	C	T	4: 151,102,674 (GRCm39)		probably null	Het
Rabep1	G	A	11: 70,808,306 (GRCm39)	A421T	probably benign	Het
Rint1	C	T	5: 23,999,450 (GRCm39)	Q80*	probably null	Het
Rnaset2b	G	A	17: 7,248,568 (GRCm39)		probably null	Het
Sccpdh	T	C	1: 179,508,070 (GRCm39)	Y237H	probably benign	Het
Scn10a	T	A	9: 119,520,628 (GRCm39)	T91S	probably damaging	Het
Spock1	A	G	13: 57,592,245 (GRCm39)		probably benign	Het
Stat1	A	G	1: 52,182,125 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,118,203 (GRCm39)	E2212G	probably damaging	Het
Taok1	T	A	11: 77,440,103 (GRCm39)	R635W	probably benign	Het
Vmn1r39	A	G	6: 66,781,946 (GRCm39)	I124T	probably benign	Het
Vmn2r32	T	C	7: 7,477,283 (GRCm39)	I369M	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
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
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

Posted On

2015-04-16