Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Cdk5rap1'

153750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk5rap1

Ensembl Gene

ENSMUSG00000027487

Gene Name

CDK5 regulatory subunit associated protein 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

154335380-154373010 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154366036 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 156 (N156I)

Ref Sequence

ENSEMBL: ENSMUSP00000105352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028990] [ENSMUST00000109730] [ENSMUST00000109731]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028990
AA Change: N156I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: N156I

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	3.2e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109730
AA Change: N156I

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

SMART Domains

Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487
AA Change: N156I

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	181	1.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109731
AA Change: N156I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: N156I

Domain	Start	End	E-Value	Type
Pfam:UPF0004	100	203	1.1e-31	PFAM
Elp3	247	486	4.83e-52	SMART
Pfam:TRAM	500	574	1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150308

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 regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Cdk5rap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Cdk5rap1	APN	2	154335569	missense	probably damaging	0.98
IGL02626:Cdk5rap1	APN	2	154365960	critical splice donor site	probably null
IGL03278:Cdk5rap1	APN	2	154370702	missense	probably benign	0.00
R1052:Cdk5rap1	UTSW	2	154360599	missense	possibly damaging	0.96
R1333:Cdk5rap1	UTSW	2	154360654	missense	probably damaging	0.97
R1552:Cdk5rap1	UTSW	2	154370695	missense	probably benign	0.00
R1553:Cdk5rap1	UTSW	2	154352251	missense	probably damaging	1.00
R2107:Cdk5rap1	UTSW	2	154353246	missense	probably benign	0.22
R3946:Cdk5rap1	UTSW	2	154348716	missense	probably damaging	1.00
R4126:Cdk5rap1	UTSW	2	154368895	missense	probably damaging	1.00
R4715:Cdk5rap1	UTSW	2	154361835	makesense	probably null
R4865:Cdk5rap1	UTSW	2	154370956	critical splice acceptor site	probably null
R4866:Cdk5rap1	UTSW	2	154370956	critical splice acceptor site	probably null
R4867:Cdk5rap1	UTSW	2	154370956	critical splice acceptor site	probably null
R4946:Cdk5rap1	UTSW	2	154368874	missense	possibly damaging	0.91
R5087:Cdk5rap1	UTSW	2	154342395	missense	probably damaging	1.00
R5319:Cdk5rap1	UTSW	2	154335569	missense	possibly damaging	0.62
R5383:Cdk5rap1	UTSW	2	154350835	missense	possibly damaging	0.78
R5582:Cdk5rap1	UTSW	2	154345974	missense	probably benign	0.01
R5780:Cdk5rap1	UTSW	2	154345868	frame shift	probably null
R6262:Cdk5rap1	UTSW	2	154370686	missense	probably benign	0.04
R6274:Cdk5rap1	UTSW	2	154368241	missense	probably damaging	0.99
R7263:Cdk5rap1	UTSW	2	154360732	missense	probably benign	0.12
R7388:Cdk5rap1	UTSW	2	154360675	missense	probably damaging	1.00
R7650:Cdk5rap1	UTSW	2	154354116	missense	probably benign	0.01
R8424:Cdk5rap1	UTSW	2	154346012	missense	probably damaging	1.00

Posted On

2014-02-04