Incidental Mutation 'IGL00800:Cdk13'
ID 9566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk13
Ensembl Gene ENSMUSG00000041297
Gene Name cyclin dependent kinase 13
Synonyms 2310015O17Rik, Cdc2l5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00800
Quality Score
Status
Chromosome 13
Chromosomal Location 17885309-17979960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17902727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 941 (V941A)
Ref Sequence ENSEMBL: ENSMUSP00000152820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042365] [ENSMUST00000222800] [ENSMUST00000223490]
AlphaFold Q69ZA1
Predicted Effect probably damaging
Transcript: ENSMUST00000042365
AA Change: V941A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: V941A

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: ENSMUST00000222359
Predicted Effect probably damaging
Transcript: ENSMUST00000222800
AA Change: V327A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000223490
AA Change: V941A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,854,613 (GRCm39) I926L probably benign Het
Adam6b T C 12: 113,454,062 (GRCm39) V293A probably benign Het
Adamts14 T A 10: 61,041,197 (GRCm39) T838S probably benign Het
Cep128 T C 12: 91,222,438 (GRCm39) K762E possibly damaging Het
Dysf A G 6: 84,126,980 (GRCm39) N1366S probably damaging Het
Gfra4 A G 2: 130,882,203 (GRCm39) S268P possibly damaging Het
Il7r T G 15: 9,525,195 (GRCm39) T56P probably damaging Het
Ipo13 C T 4: 117,769,505 (GRCm39) D96N probably benign Het
Kl G A 5: 150,904,233 (GRCm39) W328* probably null Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Ranbp2 T A 10: 58,326,526 (GRCm39) D2732E probably benign Het
Rpf2 G A 10: 40,115,755 (GRCm39) Q75* probably null Het
Scd2 T C 19: 44,286,569 (GRCm39) L133P probably damaging Het
Slc6a6 T A 6: 91,718,151 (GRCm39) probably benign Het
Other mutations in Cdk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Cdk13 APN 13 17,895,683 (GRCm39) missense possibly damaging 0.88
IGL02186:Cdk13 APN 13 17,947,112 (GRCm39) missense probably benign 0.02
IGL02447:Cdk13 APN 13 17,947,001 (GRCm39) missense probably benign 0.10
IGL02494:Cdk13 APN 13 17,913,710 (GRCm39) nonsense probably null
IGL02542:Cdk13 APN 13 17,902,763 (GRCm39) missense probably damaging 0.99
IGL02602:Cdk13 APN 13 17,901,745 (GRCm39) missense probably damaging 0.99
Vortex UTSW 13 17,913,739 (GRCm39) missense probably damaging 1.00
Whirlpool UTSW 13 17,946,988 (GRCm39) missense possibly damaging 0.92
R0115:Cdk13 UTSW 13 17,894,079 (GRCm39) missense probably damaging 0.99
R0421:Cdk13 UTSW 13 17,937,755 (GRCm39) missense probably damaging 0.99
R0481:Cdk13 UTSW 13 17,894,079 (GRCm39) missense probably damaging 0.99
R0681:Cdk13 UTSW 13 17,895,882 (GRCm39) splice site probably benign
R1432:Cdk13 UTSW 13 17,893,001 (GRCm39) missense probably damaging 1.00
R2013:Cdk13 UTSW 13 17,913,748 (GRCm39) nonsense probably null
R2221:Cdk13 UTSW 13 17,894,120 (GRCm39) missense probably damaging 0.99
R2332:Cdk13 UTSW 13 17,893,280 (GRCm39) missense probably damaging 1.00
R2389:Cdk13 UTSW 13 17,926,361 (GRCm39) missense probably damaging 1.00
R4546:Cdk13 UTSW 13 17,941,159 (GRCm39) missense probably damaging 0.98
R4753:Cdk13 UTSW 13 17,937,833 (GRCm39) missense probably damaging 1.00
R4855:Cdk13 UTSW 13 17,895,868 (GRCm39) missense probably damaging 1.00
R4856:Cdk13 UTSW 13 17,894,319 (GRCm39) missense probably benign
R4861:Cdk13 UTSW 13 17,941,171 (GRCm39) missense probably damaging 1.00
R4861:Cdk13 UTSW 13 17,941,171 (GRCm39) missense probably damaging 1.00
R4886:Cdk13 UTSW 13 17,894,319 (GRCm39) missense probably benign
R4909:Cdk13 UTSW 13 17,946,988 (GRCm39) missense possibly damaging 0.92
R5152:Cdk13 UTSW 13 17,893,110 (GRCm39) missense probably benign 0.13
R5308:Cdk13 UTSW 13 17,946,898 (GRCm39) missense probably damaging 0.98
R5350:Cdk13 UTSW 13 17,978,515 (GRCm39) unclassified probably benign
R5412:Cdk13 UTSW 13 17,941,115 (GRCm39) missense probably damaging 1.00
R5493:Cdk13 UTSW 13 17,978,147 (GRCm39) unclassified probably benign
R5719:Cdk13 UTSW 13 17,894,240 (GRCm39) missense probably damaging 0.98
R6052:Cdk13 UTSW 13 17,895,800 (GRCm39) missense probably damaging 1.00
R6349:Cdk13 UTSW 13 17,926,304 (GRCm39) missense probably damaging 1.00
R6415:Cdk13 UTSW 13 17,913,739 (GRCm39) missense probably damaging 1.00
R7665:Cdk13 UTSW 13 17,947,138 (GRCm39) missense possibly damaging 0.78
R7666:Cdk13 UTSW 13 17,947,161 (GRCm39) start gained probably benign
R7764:Cdk13 UTSW 13 17,895,890 (GRCm39) splice site probably null
R8100:Cdk13 UTSW 13 17,978,101 (GRCm39) missense unknown
R9089:Cdk13 UTSW 13 17,978,444 (GRCm39) missense unknown
R9224:Cdk13 UTSW 13 17,941,071 (GRCm39) missense probably damaging 1.00
R9476:Cdk13 UTSW 13 17,902,747 (GRCm39) missense probably damaging 1.00
R9510:Cdk13 UTSW 13 17,902,747 (GRCm39) missense probably damaging 1.00
R9612:Cdk13 UTSW 13 17,926,440 (GRCm39) missense
R9685:Cdk13 UTSW 13 17,978,542 (GRCm39) missense unknown
RF009:Cdk13 UTSW 13 17,978,329 (GRCm39) missense unknown
Posted On 2012-12-06