Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00807:Cdc42bpa'

9524

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: 0.823) question?

Stock #

IGL00807

Quality Score

Status

Chromosome

Chromosomal Location

179788037-179993168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179969018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1218 (I1218V)

Ref Sequence

ENSEMBL: ENSMUSP00000148469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076687] [ENSMUST00000097450] [ENSMUST00000097453] [ENSMUST00000111117] [ENSMUST00000135056] [ENSMUST00000212756]

AlphaFold

Q3UU96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076687
AA Change: I1108V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075980
Gene: ENSMUSG00000026490
AA Change: I1108V

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

possibly damaging
Transcript: ENSMUST00000097450
AA Change: I1189V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095059
Gene: ENSMUSG00000026490
AA Change: I1189V

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

possibly damaging
Transcript: ENSMUST00000097453
AA Change: I1161V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095062
Gene: ENSMUSG00000026490
AA Change: I1161V

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

possibly damaging
Transcript: ENSMUST00000111117
AA Change: I1202V

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106746
Gene: ENSMUSG00000026490
AA Change: I1202V

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

unknown
Transcript: ENSMUST00000133890
AA Change: I517V

SMART Domains

Protein: ENSMUSP00000116337
Gene: ENSMUSG00000026490
AA Change: I517V

Domain	Start	End	E-Value	Type
coiled coil region	6	109	N/A	INTRINSIC
Pfam:DMPK_coil	175	235	1.4e-29	PFAM
C1	329	378	4.09e-7	SMART
PH	399	519	6.02e-8	SMART
CNH	544	821	3.37e-17	SMART
low complexity region	866	878	N/A	INTRINSIC
PBD	887	922	2.05e-10	SMART
low complexity region	941	956	N/A	INTRINSIC
low complexity region	977	990	N/A	INTRINSIC
low complexity region	1016	1030	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135056
AA Change: I418V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114333
Gene: ENSMUSG00000026490
AA Change: I418V

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	59	119	9e-30	PFAM
low complexity region	148	156	N/A	INTRINSIC
C1	229	278	4.09e-7	SMART
PH	299	419	6.02e-8	SMART
CNH	444	721	3.37e-17	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000143176
AA Change: I391V

SMART Domains

Protein: ENSMUSP00000115261
Gene: ENSMUSG00000026490
AA Change: I391V

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	84	144	1.3e-29	PFAM
C1	203	252	4.09e-7	SMART
PH	273	393	6.02e-8	SMART
CNH	418	695	3.37e-17	SMART
low complexity region	740	752	N/A	INTRINSIC
PBD	761	796	1.02e-5	SMART
PBD	802	839	2.21e-1	SMART
low complexity region	877	892	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
low complexity region	952	966	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212756
AA Change: I1218V

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195719

Predicted Effect

probably benign
Transcript: ENSMUST00000145181

SMART Domains

Protein: ENSMUSP00000118039
Gene: ENSMUSG00000026490

Domain	Start	End	E-Value	Type
Pfam:DMPK_coil	30	90	1e-30	PFAM
low complexity region	119	127	N/A	INTRINSIC
SCOP:d1faq__	163	185	2e-4	SMART
Blast:C1	165	185	1e-7	BLAST

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,285 (GRCm39)	T3453S	probably benign	Het
Ahnak	T	A	19: 8,985,886 (GRCm39)	V2390E	possibly damaging	Het
Aldh8a1	A	T	10: 21,271,329 (GRCm39)	I352F	probably damaging	Het
Ccnt2	T	C	1: 127,725,628 (GRCm39)		probably benign	Het
Ccr1l1	A	T	9: 123,777,506 (GRCm39)	W314R	probably benign	Het
Dlc1	G	A	8: 37,040,002 (GRCm39)	T1386I	probably benign	Het
Frs2	A	C	10: 116,910,791 (GRCm39)		probably benign	Het
Gria1	T	C	11: 56,902,866 (GRCm39)	Y3H	probably benign	Het
Iigp1c	C	T	18: 60,378,483 (GRCm39)	S6F	probably damaging	Het
Ints2	T	C	11: 86,123,961 (GRCm39)	N609S	probably damaging	Het
Lyst	T	A	13: 13,825,008 (GRCm39)	M1541K	possibly damaging	Het
Mmachc	A	T	4: 116,563,118 (GRCm39)	V79E	probably damaging	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Pde2a	G	A	7: 101,153,619 (GRCm39)	V436M	probably damaging	Het
Polr1has	G	T	17: 37,275,813 (GRCm39)	A132S	probably damaging	Het
Rhot1	C	T	11: 80,116,928 (GRCm39)	H101Y	probably benign	Het
Sh2d4a	T	C	8: 68,782,018 (GRCm39)		probably null	Het
Taar2	A	G	10: 23,816,573 (GRCm39)	M38V	probably benign	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	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
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
IGL01377:Cdc42bpa	APN	1	179,892,708 (GRCm39)	missense	probably damaging	1.00
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

2012-12-06