Incidental Mutation 'IGL00958:Cdk5rap3'
ID 28595
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 # IGL00958
Quality Score
Status
Chromosome 11
Chromosomal Location 96798252-96807322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96800793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 348 (N348D)
Ref Sequence ENSEMBL: ENSMUSP00000099441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103152] [ENSMUST00000127048] [ENSMUST00000130774] [ENSMUST00000134732] [ENSMUST00000144731] [ENSMUST00000147573] [ENSMUST00000153305] [ENSMUST00000156315]
AlphaFold Q99LM2
Predicted Effect probably benign
Transcript: ENSMUST00000103152
AA Change: N348D

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: N348D

DomainStartEndE-ValueType
Pfam:DUF773 4 500 3.7e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127048
SMART Domains Protein: ENSMUSP00000114849
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 145 1.4e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130767
Predicted Effect probably benign
Transcript: ENSMUST00000130774
SMART Domains Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 80 1.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134732
SMART Domains Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 107 4.7e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144731
SMART Domains Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 124 9.8e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154289
Predicted Effect probably benign
Transcript: ENSMUST00000153305
SMART Domains Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669

DomainStartEndE-ValueType
Pfam:DUF773 1 115 4.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156315
SMART Domains Protein: ENSMUSP00000123113
Gene: ENSMUSG00000018669

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
9330159F19Rik G T 10: 29,103,324 (GRCm39) R635M probably benign Het
Arhgef19 T C 4: 140,976,294 (GRCm39) probably benign Het
Cd101 T C 3: 100,911,018 (GRCm39) D880G probably damaging Het
Cep295nl G A 11: 118,224,730 (GRCm39) T38I probably damaging Het
Col3a1 T G 1: 45,366,755 (GRCm39) S232A unknown Het
Ddx1 T C 12: 13,290,849 (GRCm39) probably null Het
Gckr A T 5: 31,456,129 (GRCm39) probably null Het
Gm5800 A G 14: 51,951,269 (GRCm39) L110P possibly damaging Het
H2ac25 G T 11: 58,845,766 (GRCm39) G68V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mfap3l A G 8: 61,124,516 (GRCm39) I253V probably benign Het
Or10q1b G A 19: 13,683,096 (GRCm39) V302I probably benign Het
Or13a28 T A 7: 140,218,169 (GRCm39) L185H probably damaging Het
Or1j10 A G 2: 36,266,928 (GRCm39) I47V probably damaging Het
Or4k42 A G 2: 111,319,565 (GRCm39) *313Q probably null Het
Or51a42 T C 7: 103,708,620 (GRCm39) Y63C probably benign Het
Or8b3b A G 9: 38,584,320 (GRCm39) V153A probably benign Het
Pias3 C T 3: 96,606,738 (GRCm39) probably benign Het
Ppox A G 1: 171,105,453 (GRCm39) probably null Het
Raet1d A G 10: 22,246,791 (GRCm39) T40A possibly damaging Het
Rcan2 G A 17: 44,347,908 (GRCm39) V206I probably damaging Het
Skic3 T C 13: 76,270,864 (GRCm39) Y288H probably damaging Het
Slc8b1 T C 5: 120,671,049 (GRCm39) L545P probably damaging Het
Tmem145 T G 7: 25,006,782 (GRCm39) probably null Het
Trib2 T C 12: 15,843,634 (GRCm39) E336G possibly damaging Het
Other mutations in Cdk5rap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Cdk5rap3 APN 11 96,804,225 (GRCm39) missense probably damaging 1.00
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 2013-04-17