Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00587:Cdk5rap3'

9572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk5rap3

Ensembl Gene

ENSMUSG00000018669

Gene Name

CDK5 regulatory subunit associated protein 3

Synonyms

HSF-27, MST016, OK/SW-cl.114, 1810007E24Rik, C53, IC53

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00587

Quality Score

Status

Chromosome

Chromosomal Location

96798252-96807322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96804225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 43 (S43P)

Ref Sequence

ENSEMBL: ENSMUSP00000123113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000153305] [ENSMUST00000156315] [ENSMUST00000147573]

AlphaFold

Q99LM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000103152
AA Change: S90P

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

SMART Domains

Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: S90P

Domain	Start	End	E-Value	Type
Pfam:DUF773	4	500	3.7e-195	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000127048
AA Change: S43P

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

SMART Domains

Protein: ENSMUSP00000114849
Gene: ENSMUSG00000018669
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	145	1.4e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130767

Predicted Effect

probably damaging
Transcript: ENSMUST00000130774
AA Change: S43P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	80	1.6e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131501

Predicted Effect

probably damaging
Transcript: ENSMUST00000134732
AA Change: S90P

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

SMART Domains

Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669
AA Change: S90P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	107	4.7e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144731
AA Change: S43P

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

SMART Domains

Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	124	9.8e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153305
AA Change: S90P

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

SMART Domains

Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669
AA Change: S90P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	115	4.2e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156315
AA Change: S43P

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

SMART Domains

Protein: ENSMUSP00000123113
Gene: ENSMUSG00000018669
AA Change: S43P

Domain	Start	End	E-Value	Type
Pfam:DUF773	1	140	2.2e-79	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154289

Predicted Effect

probably benign
Transcript: ENSMUST00000147573

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 protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	A	C	15: 97,143,327 (GRCm39)	M365R	possibly damaging	Het
Atat1	T	C	17: 36,208,775 (GRCm39)	D352G	probably benign	Het
Bbs12	A	G	3: 37,374,346 (GRCm39)	T265A	probably damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Chchd6	A	T	6: 89,546,399 (GRCm39)		probably null	Het
Cr2	C	T	1: 194,836,559 (GRCm39)	R868Q	possibly damaging	Het
Cyp2d9	T	C	15: 82,339,344 (GRCm39)	S126P	possibly damaging	Het
Dsg3	T	A	18: 20,672,711 (GRCm39)	I794N	probably damaging	Het
Fga	A	T	3: 82,937,596 (GRCm39)	S158C	possibly damaging	Het
Gm14240	T	C	2: 155,894,870 (GRCm39)		probably null	Het
Itga1	C	A	13: 115,148,785 (GRCm39)	V279L	probably damaging	Het
Kdm1b	T	C	13: 47,222,016 (GRCm39)	V485A	probably benign	Het
Mfap3l	T	C	8: 61,124,943 (GRCm39)	V395A	probably benign	Het
Nlrp14	T	A	7: 106,780,974 (GRCm39)	V57E	probably benign	Het
P2ry12	A	T	3: 59,125,303 (GRCm39)	I124K	probably damaging	Het
Paxip1	A	G	5: 27,977,550 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,470,222 (GRCm39)		probably benign	Het
Rab28	T	C	5: 41,860,799 (GRCm39)	R52G	probably benign	Het
Rrp15	T	C	1: 186,453,745 (GRCm39)		probably null	Het
Sel1l2	G	A	2: 140,085,864 (GRCm39)	L539F	possibly damaging	Het
Ticam2	T	C	18: 46,693,880 (GRCm39)	E69G	probably benign	Het
Zcchc2	T	A	1: 105,957,993 (GRCm39)	S821R	probably benign	Het
Zcchc4	T	A	5: 52,973,511 (GRCm39)	S379T	probably benign	Het
Zfp53	T	C	17: 21,728,600 (GRCm39)	V211A	probably benign	Het
Zmym2	T	G	14: 57,140,817 (GRCm39)	S219A	possibly damaging	Het

Other mutations in Cdk5rap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Cdk5rap3	APN	11	96,800,793 (GRCm39)	missense	probably benign	0.04
IGL00964:Cdk5rap3	APN	11	96,800,765 (GRCm39)	critical splice donor site	probably null
IGL01767:Cdk5rap3	APN	11	96,804,291 (GRCm39)	missense	probably damaging	1.00
IGL02321:Cdk5rap3	APN	11	96,804,291 (GRCm39)	missense	probably damaging	1.00
IGL02352:Cdk5rap3	APN	11	96,807,003 (GRCm39)	missense	probably damaging	1.00
R0032:Cdk5rap3	UTSW	11	96,799,579 (GRCm39)	missense	possibly damaging	0.61
R0894:Cdk5rap3	UTSW	11	96,799,654 (GRCm39)	missense	probably damaging	1.00
R1795:Cdk5rap3	UTSW	11	96,799,654 (GRCm39)	missense	probably damaging	1.00
R5035:Cdk5rap3	UTSW	11	96,806,911 (GRCm39)	utr 5 prime	probably benign
R5530:Cdk5rap3	UTSW	11	96,802,459 (GRCm39)	nonsense	probably null
R5782:Cdk5rap3	UTSW	11	96,802,412 (GRCm39)	missense	probably benign	0.01
R6278:Cdk5rap3	UTSW	11	96,802,729 (GRCm39)	missense	probably damaging	1.00
R6888:Cdk5rap3	UTSW	11	96,807,018 (GRCm39)	missense	probably benign	0.33
R7526:Cdk5rap3	UTSW	11	96,800,771 (GRCm39)	missense	probably benign	0.05
R8197:Cdk5rap3	UTSW	11	96,806,975 (GRCm39)	critical splice donor site	probably null
R8784:Cdk5rap3	UTSW	11	96,803,212 (GRCm39)	missense	probably benign	0.35
Z1177:Cdk5rap3	UTSW	11	96,803,042 (GRCm39)	critical splice donor site	probably null

Posted On

2012-12-06