Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03367:Cdc42bpb'

420137

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 #

IGL03367

Quality Score

Status

Chromosome

Chromosomal Location

111259410-111344152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111302593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 155 (Y155H)

Ref Sequence

ENSEMBL: ENSMUSP00000042565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041965] [ENSMUST00000222196]

AlphaFold

Q7TT50

Predicted Effect

probably damaging
Transcript: ENSMUST00000041965
AA Change: Y155H

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

SMART Domains

Protein: ENSMUSP00000042565
Gene: ENSMUSG00000021279
AA Change: Y155H

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: ENSMUST00000222196

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,211,561 (GRCm39)		probably benign	Het
Adra1a	G	A	14: 66,875,438 (GRCm39)	V138I	possibly damaging	Het
Alpk3	A	G	7: 80,744,738 (GRCm39)	I1278V	probably benign	Het
Asb6	A	T	2: 30,714,691 (GRCm39)	I185N	possibly damaging	Het
Atg9a	A	G	1: 75,164,601 (GRCm39)	V121A	probably benign	Het
Ceacam15	A	C	7: 16,409,512 (GRCm39)	S8A	possibly damaging	Het
Cep170b	T	A	12: 112,703,672 (GRCm39)	D615E	probably benign	Het
Cntn6	G	T	6: 104,781,299 (GRCm39)	G462C	probably damaging	Het
Col8a2	A	G	4: 126,205,991 (GRCm39)	D667G	probably damaging	Het
Cyp2c29	A	G	19: 39,317,659 (GRCm39)	K382E	probably damaging	Het
Dgkd	T	C	1: 87,868,030 (GRCm39)		probably null	Het
Dkk2	C	T	3: 131,883,838 (GRCm39)	T246I	probably damaging	Het
Dnah5	T	C	15: 28,234,473 (GRCm39)	L294P	possibly damaging	Het
Erbb2	G	T	11: 98,313,701 (GRCm39)		probably null	Het
Fn1	A	G	1: 71,636,712 (GRCm39)	F2147L	probably benign	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gnrhr	C	T	5: 86,330,190 (GRCm39)	V277I	probably benign	Het
H2-T10	T	A	17: 36,431,285 (GRCm39)	E129V	possibly damaging	Het
Hmgcr	T	C	13: 96,802,361 (GRCm39)	T108A	probably damaging	Het
Hnrnph3	A	T	10: 62,853,008 (GRCm39)	I196N	probably damaging	Het
Insyn1	A	G	9: 58,406,381 (GRCm39)	H97R	probably damaging	Het
Kcnq5	T	C	1: 21,473,289 (GRCm39)	K653E	probably damaging	Het
Lgi2	C	A	5: 52,719,502 (GRCm39)	D100Y	probably damaging	Het
Mettl15	T	A	2: 108,961,916 (GRCm39)	H231L	probably benign	Het
Mthfd1l	A	G	10: 4,056,536 (GRCm39)		probably benign	Het
Pik3cg	A	G	12: 32,242,120 (GRCm39)	S997P	probably benign	Het
Pla2g1b	T	C	5: 115,610,173 (GRCm39)	C105R	probably damaging	Het
Ppil1	A	T	17: 29,471,218 (GRCm39)		probably benign	Het
Pramel22	C	T	4: 143,382,193 (GRCm39)	V168I	possibly damaging	Het
Rbbp8	A	G	18: 11,854,776 (GRCm39)	T334A	probably benign	Het
Slc15a4	T	C	5: 127,679,005 (GRCm39)	Y445C	probably damaging	Het
Sox14	A	C	9: 99,757,715 (GRCm39)	I8S	probably damaging	Het
Spice1	A	G	16: 44,176,541 (GRCm39)	T44A	probably damaging	Het
Sult3a1	G	T	10: 33,753,342 (GRCm39)	V213L	probably benign	Het
Vkorc1l1	C	A	5: 130,011,148 (GRCm39)	Y111*	probably null	Het
Wdr47	G	T	3: 108,537,089 (GRCm39)		probably benign	Het
Wdr90	A	G	17: 26,066,765 (GRCm39)		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
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

2016-08-02