Incidental Mutation 'IGL02494:Cdk13'
ID295771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk13
Ensembl Gene ENSMUSG00000041297
Gene Namecyclin-dependent kinase 13
Synonyms2310015O17Rik, Cdc2l5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02494
Quality Score
Status
Chromosome13
Chromosomal Location17710315-17805097 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 17739125 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 890 (R890*)
Ref Sequence ENSEMBL: ENSMUSP00000152820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042365] [ENSMUST00000222800] [ENSMUST00000223490]
Predicted Effect probably null
Transcript: ENSMUST00000042365
AA Change: R890*
SMART Domains Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: R890*

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 32 86 N/A INTRINSIC
low complexity region 93 113 N/A INTRINSIC
low complexity region 130 139 N/A INTRINSIC
low complexity region 160 187 N/A INTRINSIC
low complexity region 189 225 N/A INTRINSIC
low complexity region 238 272 N/A INTRINSIC
low complexity region 337 377 N/A INTRINSIC
low complexity region 384 402 N/A INTRINSIC
low complexity region 405 442 N/A INTRINSIC
low complexity region 450 490 N/A INTRINSIC
internal_repeat_1 553 599 6.15e-5 PROSPERO
low complexity region 607 617 N/A INTRINSIC
low complexity region 631 641 N/A INTRINSIC
low complexity region 645 661 N/A INTRINSIC
S_TKc 705 998 7.25e-94 SMART
low complexity region 1173 1184 N/A INTRINSIC
internal_repeat_1 1190 1236 6.15e-5 PROSPERO
low complexity region 1248 1273 N/A INTRINSIC
low complexity region 1299 1311 N/A INTRINSIC
low complexity region 1355 1360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222359
Predicted Effect probably null
Transcript: ENSMUST00000222800
AA Change: R276*
Predicted Effect probably null
Transcript: ENSMUST00000223490
AA Change: R890*
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 cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 C178Y possibly damaging Het
Arg2 A G 12: 79,151,923 R242G probably benign Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Bglap2 A T 3: 88,377,936 C74* probably null Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Naca G A 10: 128,041,310 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Ocrl G A X: 47,933,438 D262N probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign Het
Other mutations in Cdk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Cdk13 APN 13 17721098 missense possibly damaging 0.88
IGL00800:Cdk13 APN 13 17728142 missense probably damaging 1.00
IGL02186:Cdk13 APN 13 17772527 missense probably benign 0.02
IGL02447:Cdk13 APN 13 17772416 missense probably benign 0.10
IGL02542:Cdk13 APN 13 17728178 missense probably damaging 0.99
IGL02602:Cdk13 APN 13 17727160 missense probably damaging 0.99
Vortex UTSW 13 17739154 missense probably damaging 1.00
Whirlpool UTSW 13 17772403 missense possibly damaging 0.92
R0115:Cdk13 UTSW 13 17719494 missense probably damaging 0.99
R0421:Cdk13 UTSW 13 17763170 missense probably damaging 0.99
R0481:Cdk13 UTSW 13 17719494 missense probably damaging 0.99
R0681:Cdk13 UTSW 13 17721297 splice site probably benign
R1432:Cdk13 UTSW 13 17718416 missense probably damaging 1.00
R2013:Cdk13 UTSW 13 17739163 nonsense probably null
R2221:Cdk13 UTSW 13 17719535 missense probably damaging 0.99
R2332:Cdk13 UTSW 13 17718695 missense probably damaging 1.00
R2389:Cdk13 UTSW 13 17751776 missense probably damaging 1.00
R4546:Cdk13 UTSW 13 17766574 missense probably damaging 0.98
R4753:Cdk13 UTSW 13 17763248 missense probably damaging 1.00
R4855:Cdk13 UTSW 13 17721283 missense probably damaging 1.00
R4856:Cdk13 UTSW 13 17719734 missense probably benign
R4861:Cdk13 UTSW 13 17766586 missense probably damaging 1.00
R4861:Cdk13 UTSW 13 17766586 missense probably damaging 1.00
R4886:Cdk13 UTSW 13 17719734 missense probably benign
R4909:Cdk13 UTSW 13 17772403 missense possibly damaging 0.92
R5152:Cdk13 UTSW 13 17718525 missense probably benign 0.13
R5308:Cdk13 UTSW 13 17772313 missense probably damaging 0.98
R5350:Cdk13 UTSW 13 17803930 unclassified probably benign
R5412:Cdk13 UTSW 13 17766530 missense probably damaging 1.00
R5493:Cdk13 UTSW 13 17803562 unclassified probably benign
R5719:Cdk13 UTSW 13 17719655 missense probably damaging 0.98
R6052:Cdk13 UTSW 13 17721215 missense probably damaging 1.00
R6349:Cdk13 UTSW 13 17751719 missense probably damaging 1.00
R6415:Cdk13 UTSW 13 17739154 missense probably damaging 1.00
R7665:Cdk13 UTSW 13 17772553 missense possibly damaging 0.78
R7666:Cdk13 UTSW 13 17772576 start gained probably benign
R7764:Cdk13 UTSW 13 17721305 splice site probably null
RF009:Cdk13 UTSW 13 17803744 missense unknown
Posted On2015-04-16