Incidental Mutation 'R1418:Cdk12'
ID 159941
Institutional Source Beutler Lab
Gene Symbol Cdk12
Ensembl Gene ENSMUSG00000003119
Gene Name cyclin dependent kinase 12
Synonyms Crkrs, Crk7, D11Ertd752e, 1810022J16Rik
MMRRC Submission 039474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1418 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98093885-98169330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98132611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1013 (S1013R)
Ref Sequence ENSEMBL: ENSMUSP00000103163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003203] [ENSMUST00000107538] [ENSMUST00000107539]
AlphaFold Q14AX6
Predicted Effect unknown
Transcript: ENSMUST00000003203
AA Change: S1013R
SMART Domains Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S1013R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107538
AA Change: S1013R
SMART Domains Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S1013R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
low complexity region 1252 1276 N/A INTRINSIC
low complexity region 1467 1483 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000107539
AA Change: S1013R
SMART Domains Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S1013R

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 40 51 N/A INTRINSIC
low complexity region 74 92 N/A INTRINSIC
low complexity region 103 123 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
low complexity region 166 177 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
low complexity region 286 384 N/A INTRINSIC
low complexity region 511 568 N/A INTRINSIC
low complexity region 623 633 N/A INTRINSIC
low complexity region 666 684 N/A INTRINSIC
S_TKc 723 1016 1.49e-95 SMART
low complexity region 1253 1267 N/A INTRINSIC
low complexity region 1458 1474 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147441
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184250
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 97% (92/95)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between implantation and E6.5 with decreased proliferation and increased apoptosis in the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T G 6: 52,156,131 (GRCm39) probably benign Het
Abtb3 C A 10: 85,481,442 (GRCm39) T948K probably damaging Het
Adamts12 T A 15: 11,286,890 (GRCm39) W832R probably damaging Het
Alb A G 5: 90,612,061 (GRCm39) probably benign Het
Arnt A G 3: 95,377,710 (GRCm39) probably benign Het
Asap2 A C 12: 21,289,586 (GRCm39) N501H probably damaging Het
Asap2 A G 12: 21,289,590 (GRCm39) E499G probably damaging Het
Atp5f1b C T 10: 127,919,167 (GRCm39) probably benign Het
Atrnl1 G A 19: 57,924,137 (GRCm39) probably null Het
AW554918 T G 18: 25,472,756 (GRCm39) probably null Het
Bhmt1b A G 18: 87,775,458 (GRCm39) K327R probably damaging Het
Bltp3a A G 17: 28,113,551 (GRCm39) K1241R probably benign Het
Bod1l G A 5: 41,976,814 (GRCm39) T1500I probably damaging Het
Cd101 A T 3: 100,926,091 (GRCm39) Y209* probably null Het
Cntd1 T A 11: 101,176,566 (GRCm39) L221Q possibly damaging Het
Cntn4 G A 6: 106,321,831 (GRCm39) probably null Het
Col17a1 T A 19: 47,659,944 (GRCm39) D336V probably damaging Het
Creb3l4 A G 3: 90,146,045 (GRCm39) I193T possibly damaging Het
Cyp2d10 A T 15: 82,290,106 (GRCm39) probably null Het
Dcun1d3 A G 7: 119,457,158 (GRCm39) F185L probably damaging Het
Dnah17 T A 11: 117,964,849 (GRCm39) N2365Y probably damaging Het
Dnah7a T A 1: 53,686,395 (GRCm39) probably benign Het
Dnajc16 G T 4: 141,495,052 (GRCm39) S520* probably null Het
Dsg1b G T 18: 20,530,487 (GRCm39) E381* probably null Het
Dusp1 A G 17: 26,727,293 (GRCm39) V2A probably benign Het
Elf1 T C 14: 79,798,215 (GRCm39) V34A probably damaging Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Epn2 A G 11: 61,413,912 (GRCm39) S419P probably benign Het
Fat4 T C 3: 38,944,962 (GRCm39) I1285T probably damaging Het
Fcgr2b T C 1: 170,788,650 (GRCm39) Y319C probably damaging Het
Fhip2a G A 19: 57,359,594 (GRCm39) A45T possibly damaging Het
Gfra1 A C 19: 58,226,849 (GRCm39) S461A possibly damaging Het
Gli2 T G 1: 118,769,666 (GRCm39) I629L probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gnas C T 2: 174,187,007 (GRCm39) probably benign Het
Gpx3 G A 11: 54,800,422 (GRCm39) V207I probably damaging Het
Hormad2 A G 11: 4,359,005 (GRCm39) probably null Het
Hsd17b4 G T 18: 50,263,254 (GRCm39) probably benign Het
Kmt2b A G 7: 30,276,385 (GRCm39) probably benign Het
Lrch1 T C 14: 75,041,709 (GRCm39) probably benign Het
Mark3 T C 12: 111,594,271 (GRCm39) I307T possibly damaging Het
Mroh8 G A 2: 157,083,774 (GRCm39) probably benign Het
Mtch2 A T 2: 90,683,359 (GRCm39) probably benign Het
Mtif2 G A 11: 29,495,002 (GRCm39) V701I probably benign Het
Mug1 C T 6: 121,815,635 (GRCm39) S13L probably benign Het
Naa25 T G 5: 121,561,797 (GRCm39) L450R probably damaging Het
Nr4a2 A T 2: 56,998,336 (GRCm39) N543K probably damaging Het
Nrp2 C T 1: 62,822,491 (GRCm39) R695* probably null Het
Or10ag53 G T 2: 87,082,766 (GRCm39) G162C probably benign Het
Or10s1 T A 9: 39,985,768 (GRCm39) L59H probably damaging Het
Or2z9 T C 8: 72,854,231 (GRCm39) L209P probably damaging Het
Otog G T 7: 45,924,039 (GRCm39) A1133S probably damaging Het
Pclo A T 5: 14,728,144 (GRCm39) probably benign Het
Pdcd11 A G 19: 47,118,516 (GRCm39) D1794G probably damaging Het
Pde4d C A 13: 110,086,921 (GRCm39) S609* probably null Het
Pkn3 T A 2: 29,973,059 (GRCm39) V323E probably damaging Het
Plekhd1 A G 12: 80,739,659 (GRCm39) T3A probably benign Het
Plekhg4 G A 8: 106,105,742 (GRCm39) A736T probably benign Het
Plppr2 C T 9: 21,859,085 (GRCm39) P401S possibly damaging Het
Poln A G 5: 34,236,319 (GRCm39) V604A probably benign Het
Pramel21 T A 4: 143,342,604 (GRCm39) I237K probably benign Het
Prkd2 A G 7: 16,603,470 (GRCm39) D800G probably benign Het
Ptprb A G 10: 116,155,375 (GRCm39) T710A probably benign Het
Qrfpr C A 3: 36,234,244 (GRCm39) G366W probably damaging Het
Qser1 C A 2: 104,607,776 (GRCm39) A1471S probably damaging Het
Ralbp1 A T 17: 66,166,143 (GRCm39) probably benign Het
Rars1 A T 11: 35,700,567 (GRCm39) Y505N probably damaging Het
Sec24b T C 3: 129,801,072 (GRCm39) N408S probably damaging Het
Slc38a9 T C 13: 112,826,714 (GRCm39) C151R probably benign Het
Smcr8 T C 11: 60,668,858 (GRCm39) I2T probably damaging Het
Smtnl2 T C 11: 72,292,247 (GRCm39) T301A probably damaging Het
Smyd1 G A 6: 71,239,151 (GRCm39) T13I probably benign Het
Sp110 G A 1: 85,522,106 (GRCm39) H66Y probably benign Het
Szt2 A T 4: 118,244,976 (GRCm39) S1187T probably benign Het
Tdo2 A G 3: 81,868,775 (GRCm39) probably null Het
Tfap2a T A 13: 40,870,680 (GRCm39) M405L possibly damaging Het
Thap12 A G 7: 98,366,037 (GRCm39) D735G probably damaging Het
Tmem132b C A 5: 125,715,313 (GRCm39) Q341K probably benign Het
Tnip3 T C 6: 65,574,413 (GRCm39) V88A probably benign Het
Trim45 G T 3: 100,834,614 (GRCm39) M432I probably benign Het
Ttn A G 2: 76,565,755 (GRCm39) V28199A possibly damaging Het
Ube3b T C 5: 114,556,636 (GRCm39) F989S probably damaging Het
Ubox5 A G 2: 130,442,210 (GRCm39) L159P probably damaging Het
Uevld A T 7: 46,587,758 (GRCm39) V314E possibly damaging Het
Urb1 T C 16: 90,566,354 (GRCm39) M1478V probably damaging Het
Utrn C T 10: 12,589,094 (GRCm39) V871I probably benign Het
Vat1l T C 8: 115,009,101 (GRCm39) probably benign Het
Vmn1r205 T C 13: 22,777,049 (GRCm39) K18E probably benign Het
Zfp518a T A 19: 40,902,803 (GRCm39) Y911N probably damaging Het
Zfyve28 A G 5: 34,374,590 (GRCm39) C475R probably damaging Het
Other mutations in Cdk12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Cdk12 APN 11 98,136,214 (GRCm39) missense unknown
IGL00718:Cdk12 APN 11 98,140,502 (GRCm39) intron probably benign
IGL00850:Cdk12 APN 11 98,113,491 (GRCm39) missense unknown
IGL01299:Cdk12 APN 11 98,101,272 (GRCm39) missense unknown
IGL01443:Cdk12 APN 11 98,136,295 (GRCm39) missense unknown
IGL01597:Cdk12 APN 11 98,141,090 (GRCm39) unclassified probably benign
capsized UTSW 11 98,132,611 (GRCm39) missense unknown
Listing UTSW 11 98,115,293 (GRCm39) nonsense probably null
Torpedoed UTSW 11 98,111,928 (GRCm39) missense unknown
R0124:Cdk12 UTSW 11 98,102,073 (GRCm39) splice site probably benign
R0157:Cdk12 UTSW 11 98,140,602 (GRCm39) unclassified probably benign
R0190:Cdk12 UTSW 11 98,132,657 (GRCm39) critical splice donor site probably null
R0230:Cdk12 UTSW 11 98,094,817 (GRCm39) missense probably damaging 1.00
R0467:Cdk12 UTSW 11 98,094,405 (GRCm39) missense probably damaging 0.99
R0577:Cdk12 UTSW 11 98,094,332 (GRCm39) missense probably damaging 0.99
R0671:Cdk12 UTSW 11 98,120,935 (GRCm39) splice site probably benign
R0834:Cdk12 UTSW 11 98,095,211 (GRCm39) missense probably benign 0.23
R1129:Cdk12 UTSW 11 98,136,201 (GRCm39) missense unknown
R1337:Cdk12 UTSW 11 98,136,497 (GRCm39) critical splice donor site probably null
R1344:Cdk12 UTSW 11 98,132,611 (GRCm39) missense unknown
R1729:Cdk12 UTSW 11 98,140,796 (GRCm39) unclassified probably benign
R1756:Cdk12 UTSW 11 98,132,587 (GRCm39) nonsense probably null
R1784:Cdk12 UTSW 11 98,140,796 (GRCm39) unclassified probably benign
R1807:Cdk12 UTSW 11 98,101,203 (GRCm39) missense unknown
R1956:Cdk12 UTSW 11 98,110,042 (GRCm39) missense probably benign 0.23
R1966:Cdk12 UTSW 11 98,094,916 (GRCm39) nonsense probably null
R2202:Cdk12 UTSW 11 98,101,464 (GRCm39) missense unknown
R2422:Cdk12 UTSW 11 98,109,900 (GRCm39) missense probably benign 0.23
R2570:Cdk12 UTSW 11 98,094,618 (GRCm39) missense possibly damaging 0.94
R4574:Cdk12 UTSW 11 98,111,814 (GRCm39) intron probably benign
R4614:Cdk12 UTSW 11 98,140,603 (GRCm39) unclassified probably benign
R4882:Cdk12 UTSW 11 98,101,272 (GRCm39) missense unknown
R4921:Cdk12 UTSW 11 98,113,513 (GRCm39) missense unknown
R5151:Cdk12 UTSW 11 98,140,749 (GRCm39) unclassified probably benign
R5252:Cdk12 UTSW 11 98,134,335 (GRCm39) missense unknown
R5348:Cdk12 UTSW 11 98,095,118 (GRCm39) missense probably benign 0.23
R5620:Cdk12 UTSW 11 98,101,809 (GRCm39) missense unknown
R5779:Cdk12 UTSW 11 98,109,900 (GRCm39) missense probably benign 0.23
R6085:Cdk12 UTSW 11 98,134,255 (GRCm39) missense unknown
R6293:Cdk12 UTSW 11 98,115,379 (GRCm39) missense unknown
R6371:Cdk12 UTSW 11 98,136,114 (GRCm39) missense unknown
R6438:Cdk12 UTSW 11 98,115,293 (GRCm39) nonsense probably null
R6765:Cdk12 UTSW 11 98,115,355 (GRCm39) missense unknown
R6958:Cdk12 UTSW 11 98,132,525 (GRCm39) missense unknown
R7205:Cdk12 UTSW 11 98,115,451 (GRCm39) missense unknown
R7307:Cdk12 UTSW 11 98,140,626 (GRCm39) nonsense probably null
R7361:Cdk12 UTSW 11 98,101,294 (GRCm39) nonsense probably null
R7365:Cdk12 UTSW 11 98,111,910 (GRCm39) missense unknown
R7447:Cdk12 UTSW 11 98,136,106 (GRCm39) missense unknown
R7514:Cdk12 UTSW 11 98,113,484 (GRCm39) missense unknown
R7831:Cdk12 UTSW 11 98,140,653 (GRCm39) missense unknown
R7877:Cdk12 UTSW 11 98,131,661 (GRCm39) missense unknown
R7975:Cdk12 UTSW 11 98,111,928 (GRCm39) missense unknown
R8507:Cdk12 UTSW 11 98,141,111 (GRCm39) missense unknown
R8558:Cdk12 UTSW 11 98,101,915 (GRCm39) missense unknown
R8693:Cdk12 UTSW 11 98,141,133 (GRCm39) missense unknown
R9250:Cdk12 UTSW 11 98,101,398 (GRCm39) missense probably benign 0.23
R9517:Cdk12 UTSW 11 98,109,910 (GRCm39) missense unknown
R9562:Cdk12 UTSW 11 98,140,628 (GRCm39) missense unknown
R9565:Cdk12 UTSW 11 98,140,628 (GRCm39) missense unknown
R9792:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
R9793:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
R9795:Cdk12 UTSW 11 98,102,051 (GRCm39) missense unknown
Z1176:Cdk12 UTSW 11 98,094,767 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCATGCCTTAGAGCTGTTGCTCAC -3'
(R):5'- TGACCCTTACTGACCTGACACTGAC -3'

Sequencing Primer
(F):5'- CTTAGAGCTGTTGCTCACATTAG -3'
(R):5'- AGAACTGTTCTTTCAGTGTGAGAAG -3'
Posted On 2014-03-14