Incidental Mutation 'IGL00587:Cdk5rap3'
ID9572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk5rap3
Ensembl Gene ENSMUSG00000018669
Gene NameCDK5 regulatory subunit associated protein 3
SynonymsHSF-27, IC53, OK/SW-cl.114, 1810007E24Rik, MST016, C53
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00587
Quality Score
Status
Chromosome11
Chromosomal Location96907426-96916496 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96913399 bp
ZygosityHeterozygous
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] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF773 1 124 9.8e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149033
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

DomainStartEndE-ValueType
Pfam:DUF773 1 115 4.2e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154289
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

DomainStartEndE-ValueType
Pfam:DUF773 1 140 2.2e-79 PFAM
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,245,446 M365R possibly damaging Het
Atat1 T C 17: 35,897,883 D352G probably benign Het
Bbs12 A G 3: 37,320,197 T265A probably damaging Het
Cd300c A T 11: 114,959,790 N62K probably benign Het
Chchd6 A T 6: 89,569,417 probably null Het
Cr2 C T 1: 195,154,251 R868Q possibly damaging Het
Cyp2d9 T C 15: 82,455,143 S126P possibly damaging Het
Dsg3 T A 18: 20,539,654 I794N probably damaging Het
Fga A T 3: 83,030,289 S158C possibly damaging Het
Gm14240 T C 2: 156,052,950 probably null Het
Itga1 C A 13: 115,012,249 V279L probably damaging Het
Kdm1b T C 13: 47,068,540 V485A probably benign Het
Mfap3l T C 8: 60,671,909 V395A probably benign Het
Nlrp14 T A 7: 107,181,767 V57E probably benign Het
P2ry12 A T 3: 59,217,882 I124K probably damaging Het
Paxip1 A G 5: 27,772,552 probably benign Het
Prkdc T C 16: 15,652,358 probably benign Het
Rab28 T C 5: 41,703,456 R52G probably benign Het
Rrp15 T C 1: 186,721,548 probably null Het
Sel1l2 G A 2: 140,243,944 L539F possibly damaging Het
Ticam2 T C 18: 46,560,813 E69G probably benign Het
Zcchc2 T A 1: 106,030,263 S821R probably benign Het
Zcchc4 T A 5: 52,816,169 S379T probably benign Het
Zfp53 T C 17: 21,508,338 V211A probably benign Het
Zmym2 T G 14: 56,903,360 S219A possibly damaging Het
Other mutations in Cdk5rap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Cdk5rap3 APN 11 96909967 missense probably benign 0.04
IGL00964:Cdk5rap3 APN 11 96909939 critical splice donor site probably null
IGL01767:Cdk5rap3 APN 11 96913465 missense probably damaging 1.00
IGL02321:Cdk5rap3 APN 11 96913465 missense probably damaging 1.00
IGL02352:Cdk5rap3 APN 11 96916177 missense probably damaging 1.00
R0032:Cdk5rap3 UTSW 11 96908753 missense possibly damaging 0.61
R0894:Cdk5rap3 UTSW 11 96908828 missense probably damaging 1.00
R1795:Cdk5rap3 UTSW 11 96908828 missense probably damaging 1.00
R5035:Cdk5rap3 UTSW 11 96916085 utr 5 prime probably benign
R5530:Cdk5rap3 UTSW 11 96911633 nonsense probably null
R5782:Cdk5rap3 UTSW 11 96911586 missense probably benign 0.01
R6278:Cdk5rap3 UTSW 11 96911903 missense probably damaging 1.00
R6888:Cdk5rap3 UTSW 11 96916192 missense probably benign 0.33
R7526:Cdk5rap3 UTSW 11 96909945 missense probably benign 0.05
Posted On2012-12-06