Incidental Mutation 'R5779:Cdk12'
ID 501513
Institutional Source Beutler Lab
Gene Symbol Cdk12
Ensembl Gene ENSMUSG00000003119
Gene Name cyclin dependent kinase 12
Synonyms Crkrs, Crk7, D11Ertd752e, 1810022J16Rik
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5779 (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 98109900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 640 (S640R)
Ref Sequence ENSEMBL: ENSMUSP00000103163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003203] [ENSMUST00000107538] [ENSMUST00000107539]
AlphaFold Q14AX6
Predicted Effect probably benign
Transcript: ENSMUST00000003203
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: S640R

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 probably benign
Transcript: ENSMUST00000107538
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: S640R

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 probably benign
Transcript: ENSMUST00000107539
AA Change: S640R

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: S640R

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: ENSMUST00000145113
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign 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
R1418: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
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'- TGTCAGGTGTTCCATAGAGTTTT -3'
(R):5'- CATCCTGTTAAACTTACTTTGGTCT -3'

Sequencing Primer
(F):5'- ATCCCACTATAGATGGCTGTGAGC -3'
(R):5'- CTCTTTTTATATGGTTGTTGAGGTGG -3'
Posted On 2017-12-01