Incidental Mutation 'R6052:Cdk13'
ID 484182
Institutional Source Beutler Lab
Gene Symbol Cdk13
Ensembl Gene ENSMUSG00000041297
Gene Name cyclin dependent kinase 13
Synonyms 2310015O17Rik, Cdc2l5
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6052 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 17885309-17979960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17895800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1036 (D1036E)
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: D1036E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: D1036E

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: ENSMUST00000222359
Predicted Effect possibly damaging
Transcript: ENSMUST00000222800
AA Change: D422E

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000223490
AA Change: D1036E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D probably benign Het
Other mutations in Cdk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Cdk13 APN 13 17,895,683 (GRCm39) missense possibly damaging 0.88
IGL00800:Cdk13 APN 13 17,902,727 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGCTGGCACCAACAATAAAG -3'
(R):5'- AGCTTTCCAGAATGGCTTGTG -3'

Sequencing Primer
(F):5'- TGCTGGCACCAACAATAAAGTAATG -3'
(R):5'- CCAGAATGGCTTGTGGGAGG -3'
Posted On 2017-07-14