Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01377:Cdc42bpa'

78777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc42bpa

Ensembl Gene

ENSMUSG00000026490

Gene Name

CDC42 binding protein kinase alpha

Synonyms

DMPK-like, A930014J19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.834) question?

Stock #

IGL01377

Quality Score

Status

Chromosome

Chromosomal Location

179788037-179993168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 179892708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 291 (Y291N)

Ref Sequence

ENSEMBL: ENSMUSP00000095062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000134959] [ENSMUST00000212756]

AlphaFold

Q3UU96

Predicted Effect

probably damaging
Transcript: ENSMUST00000076687
AA Change: Y291N

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

SMART Domains

Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: Y291N

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	588	N/A	INTRINSIC
coiled coil region	632	735	N/A	INTRINSIC
Pfam:DMPK_coil	800	860	2.7e-29	PFAM
C1	919	968	4.09e-7	SMART
PH	989	1109	6.02e-8	SMART
CNH	1134	1411	3.37e-17	SMART
low complexity region	1456	1468	N/A	INTRINSIC
PBD	1477	1512	2.05e-10	SMART
low complexity region	1531	1546	N/A	INTRINSIC
low complexity region	1567	1580	N/A	INTRINSIC
low complexity region	1606	1620	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097450
AA Change: Y291N

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

SMART Domains

Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: Y291N

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	669	N/A	INTRINSIC
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.2e-29	PFAM
C1	1000	1049	4.09e-7	SMART
PH	1070	1190	6.02e-8	SMART
CNH	1215	1492	3.37e-17	SMART
low complexity region	1537	1549	N/A	INTRINSIC
PBD	1558	1593	2.05e-10	SMART
low complexity region	1612	1627	N/A	INTRINSIC
low complexity region	1648	1661	N/A	INTRINSIC
low complexity region	1687	1701	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097453
AA Change: Y291N

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

SMART Domains

Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: Y291N

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
coiled coil region	435	669	N/A	INTRINSIC
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.5e-29	PFAM
C1	972	1021	4.09e-7	SMART
PH	1042	1162	6.02e-8	SMART
CNH	1187	1464	3.37e-17	SMART
low complexity region	1509	1521	N/A	INTRINSIC
PBD	1530	1565	2.05e-10	SMART
low complexity region	1584	1599	N/A	INTRINSIC
low complexity region	1620	1633	N/A	INTRINSIC
low complexity region	1659	1673	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111117
AA Change: Y291N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: Y291N

Domain	Start	End	E-Value	Type
S_TKc	77	343	1.06e-86	SMART
S_TK_X	344	406	1.18e-15	SMART
low complexity region	484	499	N/A	INTRINSIC
Pfam:KELK	529	608	1.1e-32	PFAM
coiled coil region	713	816	N/A	INTRINSIC
Pfam:DMPK_coil	881	941	2.6e-29	PFAM
C1	1013	1062	4.09e-7	SMART
PH	1083	1203	6.02e-8	SMART
CNH	1228	1505	3.37e-17	SMART
low complexity region	1550	1562	N/A	INTRINSIC
PBD	1571	1606	2.05e-10	SMART
low complexity region	1625	1640	N/A	INTRINSIC
low complexity region	1661	1674	N/A	INTRINSIC
low complexity region	1700	1714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134959

SMART Domains

Protein: ENSMUSP00000142018
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
PDB:4AW2\|A	2	90	1e-58	PDB
SCOP:d1koba_	50	90	7e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212756
AA Change: Y291N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,460,108 (GRCm39)	V196D	probably damaging	Het
Ago1	C	T	4: 126,353,610 (GRCm39)	V279M	probably damaging	Het
Bltp1	T	C	3: 37,027,601 (GRCm39)		probably null	Het
Ccdc170	A	G	10: 4,510,966 (GRCm39)	D675G	probably damaging	Het
Cdca5	T	C	19: 6,140,312 (GRCm39)	S158P	probably damaging	Het
Cdh8	A	G	8: 99,760,021 (GRCm39)	I576T	probably damaging	Het
Cpsf2	T	A	12: 101,953,640 (GRCm39)		probably null	Het
Cyc1	C	T	15: 76,229,162 (GRCm39)	R143*	probably null	Het
Dcaf6	A	T	1: 165,216,293 (GRCm39)	S437T	probably benign	Het
Eif5b	A	G	1: 38,075,179 (GRCm39)	D552G	probably benign	Het
Epor	T	C	9: 21,870,593 (GRCm39)	D429G	probably damaging	Het
Farp2	A	G	1: 93,531,181 (GRCm39)	I560V	possibly damaging	Het
Fbxw21	T	A	9: 108,975,713 (GRCm39)	R228*	probably null	Het
Fyb1	T	C	15: 6,609,801 (GRCm39)	S125P	probably benign	Het
Gfm1	A	T	3: 67,382,086 (GRCm39)	Y720F	probably damaging	Het
Hspbap1	T	A	16: 35,645,681 (GRCm39)	D455E	possibly damaging	Het
Katnal2	T	C	18: 77,090,153 (GRCm39)	R285G	probably damaging	Het
Kif12	G	A	4: 63,088,962 (GRCm39)	T153I	probably damaging	Het
Klhl31	T	C	9: 77,558,013 (GRCm39)	F243S	probably benign	Het
Large2	A	G	2: 92,199,676 (GRCm39)	Y208H	probably damaging	Het
Lrp1b	A	G	2: 40,491,550 (GRCm39)	V239A	probably damaging	Het
Mblac2	G	A	13: 81,898,266 (GRCm39)	R214H	probably damaging	Het
Mlf2	A	G	6: 124,911,654 (GRCm39)	N168D	probably damaging	Het
Mtmr6	T	A	14: 60,519,483 (GRCm39)	Y134*	probably null	Het
Mtus1	T	C	8: 41,536,172 (GRCm39)	K515E	possibly damaging	Het
Nek1	A	G	8: 61,542,490 (GRCm39)	T718A	probably benign	Het
Nfx1	A	G	4: 40,977,241 (GRCm39)	N305S	probably benign	Het
Nrxn3	T	A	12: 89,499,782 (GRCm39)		probably null	Het
Nsf	T	C	11: 103,763,473 (GRCm39)	D377G	probably damaging	Het
Pde4b	A	G	4: 102,344,599 (GRCm39)	E102G	probably damaging	Het
Pdlim4	G	T	11: 53,947,130 (GRCm39)	S56R	probably benign	Het
Poc5	T	C	13: 96,538,139 (GRCm39)	V268A	probably benign	Het
Sec23b	A	C	2: 144,401,157 (GRCm39)	E6A	probably damaging	Het
Sgsm1	A	T	5: 113,424,048 (GRCm39)		probably benign	Het
Slc16a12	T	A	19: 34,650,084 (GRCm39)	N317I	possibly damaging	Het
Slc1a7	A	T	4: 107,850,162 (GRCm39)	D91V	probably damaging	Het
Slc30a9	T	G	5: 67,473,173 (GRCm39)	S86A	probably benign	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,636 (GRCm39)	S16P	probably benign	Het
Tmtc1	A	C	6: 148,147,285 (GRCm39)	V804G	possibly damaging	Het
Ttc7b	A	G	12: 100,321,371 (GRCm39)	F587L	probably benign	Het
Vmn2r86	A	T	10: 130,288,855 (GRCm39)	D215E	probably damaging	Het

Other mutations in Cdc42bpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Cdc42bpa	APN	1	179,933,686 (GRCm39)	missense	probably damaging	1.00
IGL00807:Cdc42bpa	APN	1	179,969,018 (GRCm39)	missense	possibly damaging	0.88
IGL00972:Cdc42bpa	APN	1	179,902,249 (GRCm39)	missense	probably benign	0.00
IGL01084:Cdc42bpa	APN	1	179,969,839 (GRCm39)	splice site	probably benign
IGL01149:Cdc42bpa	APN	1	179,902,137 (GRCm39)	missense	probably damaging	0.99
IGL01541:Cdc42bpa	APN	1	179,978,723 (GRCm39)	critical splice acceptor site	probably null
IGL01657:Cdc42bpa	APN	1	179,939,431 (GRCm39)	missense	probably benign	0.05
IGL01720:Cdc42bpa	APN	1	179,938,847 (GRCm39)	missense	probably damaging	1.00
IGL02227:Cdc42bpa	APN	1	179,921,989 (GRCm39)	missense	possibly damaging	0.64
IGL02234:Cdc42bpa	APN	1	179,978,756 (GRCm39)	nonsense	probably null
IGL02253:Cdc42bpa	APN	1	179,859,161 (GRCm39)	splice site	probably benign
IGL02587:Cdc42bpa	APN	1	179,921,510 (GRCm39)	missense	possibly damaging	0.91
IGL02671:Cdc42bpa	APN	1	179,889,387 (GRCm39)	missense	probably benign
IGL02746:Cdc42bpa	APN	1	179,939,312 (GRCm39)	missense	possibly damaging	0.91
IGL02756:Cdc42bpa	APN	1	179,936,824 (GRCm39)	missense	possibly damaging	0.77
IGL02994:Cdc42bpa	APN	1	179,827,002 (GRCm39)	missense	probably damaging	1.00
IGL03073:Cdc42bpa	APN	1	179,921,941 (GRCm39)	splice site	probably benign
IGL03295:Cdc42bpa	APN	1	179,977,769 (GRCm39)	missense	probably benign	0.00
P0022:Cdc42bpa	UTSW	1	179,788,841 (GRCm39)	missense	probably damaging	0.99
PIT4142001:Cdc42bpa	UTSW	1	179,859,125 (GRCm39)	missense	probably damaging	1.00
R0125:Cdc42bpa	UTSW	1	179,788,763 (GRCm39)	missense	probably damaging	1.00
R0268:Cdc42bpa	UTSW	1	179,983,347 (GRCm39)	intron	probably benign
R0472:Cdc42bpa	UTSW	1	179,867,744 (GRCm39)	missense	probably damaging	1.00
R0492:Cdc42bpa	UTSW	1	179,928,755 (GRCm39)	missense	probably benign	0.00
R0609:Cdc42bpa	UTSW	1	179,867,744 (GRCm39)	missense	probably damaging	1.00
R0691:Cdc42bpa	UTSW	1	179,972,400 (GRCm39)	missense	possibly damaging	0.91
R0738:Cdc42bpa	UTSW	1	179,827,027 (GRCm39)	splice site	probably benign
R1547:Cdc42bpa	UTSW	1	179,902,209 (GRCm39)	missense	probably damaging	0.99
R1553:Cdc42bpa	UTSW	1	179,921,540 (GRCm39)	missense	probably benign	0.01
R1601:Cdc42bpa	UTSW	1	179,892,566 (GRCm39)	nonsense	probably null
R1709:Cdc42bpa	UTSW	1	179,894,789 (GRCm39)	missense	probably damaging	1.00
R2101:Cdc42bpa	UTSW	1	179,974,533 (GRCm39)	missense	probably benign	0.39
R2279:Cdc42bpa	UTSW	1	179,864,484 (GRCm39)	missense	probably damaging	0.99
R2357:Cdc42bpa	UTSW	1	179,894,792 (GRCm39)	missense	possibly damaging	0.81
R2373:Cdc42bpa	UTSW	1	179,939,349 (GRCm39)	missense	possibly damaging	0.78
R2570:Cdc42bpa	UTSW	1	179,977,742 (GRCm39)	missense	possibly damaging	0.84
R3709:Cdc42bpa	UTSW	1	179,892,628 (GRCm39)	missense	probably damaging	1.00
R3710:Cdc42bpa	UTSW	1	179,892,628 (GRCm39)	missense	probably damaging	1.00
R3816:Cdc42bpa	UTSW	1	179,972,451 (GRCm39)	missense	possibly damaging	0.80
R3854:Cdc42bpa	UTSW	1	179,983,543 (GRCm39)	intron	probably benign
R3855:Cdc42bpa	UTSW	1	179,983,543 (GRCm39)	intron	probably benign
R3917:Cdc42bpa	UTSW	1	179,933,719 (GRCm39)	critical splice donor site	probably null
R4604:Cdc42bpa	UTSW	1	179,936,759 (GRCm39)	missense	probably benign	0.00
R4622:Cdc42bpa	UTSW	1	179,902,223 (GRCm39)	missense	probably damaging	0.98
R4664:Cdc42bpa	UTSW	1	179,972,130 (GRCm39)	missense	probably damaging	0.99
R4665:Cdc42bpa	UTSW	1	179,972,130 (GRCm39)	missense	probably damaging	0.99
R4887:Cdc42bpa	UTSW	1	179,972,200 (GRCm39)	missense	possibly damaging	0.61
R4989:Cdc42bpa	UTSW	1	179,965,366 (GRCm39)	missense	probably damaging	0.99
R5033:Cdc42bpa	UTSW	1	179,892,580 (GRCm39)	missense	probably damaging	1.00
R5050:Cdc42bpa	UTSW	1	179,900,018 (GRCm39)	nonsense	probably null
R5077:Cdc42bpa	UTSW	1	179,922,098 (GRCm39)	intron	probably benign
R5196:Cdc42bpa	UTSW	1	179,899,978 (GRCm39)	missense	probably benign	0.09
R5276:Cdc42bpa	UTSW	1	179,965,415 (GRCm39)	missense	probably damaging	1.00
R5313:Cdc42bpa	UTSW	1	179,911,998 (GRCm39)	missense	probably benign
R5364:Cdc42bpa	UTSW	1	179,894,747 (GRCm39)	missense	probably benign	0.06
R5372:Cdc42bpa	UTSW	1	179,892,544 (GRCm39)	missense	probably damaging	1.00
R5405:Cdc42bpa	UTSW	1	179,966,085 (GRCm39)	missense	possibly damaging	0.95
R5405:Cdc42bpa	UTSW	1	179,894,894 (GRCm39)	missense	probably damaging	1.00
R5646:Cdc42bpa	UTSW	1	179,933,659 (GRCm39)	missense	probably damaging	0.99
R5713:Cdc42bpa	UTSW	1	179,911,975 (GRCm39)	missense	probably benign	0.03
R6012:Cdc42bpa	UTSW	1	179,892,655 (GRCm39)	missense	probably damaging	1.00
R6029:Cdc42bpa	UTSW	1	179,939,352 (GRCm39)	missense	probably damaging	1.00
R6378:Cdc42bpa	UTSW	1	179,921,561 (GRCm39)	missense	possibly damaging	0.91
R6609:Cdc42bpa	UTSW	1	179,928,839 (GRCm39)	critical splice donor site	probably null
R7122:Cdc42bpa	UTSW	1	179,892,583 (GRCm39)	missense	probably damaging	1.00
R7289:Cdc42bpa	UTSW	1	179,889,362 (GRCm39)	nonsense	probably null
R7670:Cdc42bpa	UTSW	1	179,892,646 (GRCm39)	missense	probably damaging	1.00
R7912:Cdc42bpa	UTSW	1	179,921,578 (GRCm39)	missense	probably damaging	1.00
R8139:Cdc42bpa	UTSW	1	179,896,884 (GRCm39)	missense	probably damaging	1.00
R8362:Cdc42bpa	UTSW	1	179,989,690 (GRCm39)	missense	probably damaging	0.98
R8378:Cdc42bpa	UTSW	1	179,989,709 (GRCm39)	missense	probably damaging	0.98
R8794:Cdc42bpa	UTSW	1	179,894,816 (GRCm39)	missense	probably damaging	1.00
R8835:Cdc42bpa	UTSW	1	179,896,916 (GRCm39)	missense	probably damaging	1.00
R8896:Cdc42bpa	UTSW	1	179,958,373 (GRCm39)	intron	probably benign
R9012:Cdc42bpa	UTSW	1	179,859,077 (GRCm39)	missense
R9110:Cdc42bpa	UTSW	1	179,945,258 (GRCm39)	missense	possibly damaging	0.67
R9178:Cdc42bpa	UTSW	1	179,958,401 (GRCm39)	missense
R9184:Cdc42bpa	UTSW	1	179,972,301 (GRCm39)	missense	probably benign	0.13
R9204:Cdc42bpa	UTSW	1	179,939,460 (GRCm39)	critical splice donor site	probably null
R9227:Cdc42bpa	UTSW	1	179,933,638 (GRCm39)	missense	probably benign
R9230:Cdc42bpa	UTSW	1	179,933,638 (GRCm39)	missense	probably benign
R9299:Cdc42bpa	UTSW	1	179,972,073 (GRCm39)	missense	probably damaging	1.00
R9366:Cdc42bpa	UTSW	1	179,921,675 (GRCm39)	missense	probably damaging	1.00
R9381:Cdc42bpa	UTSW	1	179,969,048 (GRCm39)	missense	probably damaging	0.97
R9461:Cdc42bpa	UTSW	1	179,969,861 (GRCm39)	missense	probably damaging	1.00
R9559:Cdc42bpa	UTSW	1	179,939,459 (GRCm39)	critical splice donor site	probably null
X0026:Cdc42bpa	UTSW	1	179,788,763 (GRCm39)	missense	probably damaging	1.00
Z1176:Cdc42bpa	UTSW	1	179,892,658 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05