Incidental Mutation 'R8100:Cdk7'
ID 630473
Institutional Source Beutler Lab
Gene Symbol Cdk7
Ensembl Gene ENSMUSG00000069089
Gene Name cyclin dependent kinase 7
Synonyms CRK4 PK (CDC2-related-kinase-4 protein kinase), Cdkn7, Crk4
MMRRC Submission 067532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8100 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100839139-100867447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100842925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 272 (I272V)
Ref Sequence ENSEMBL: ENSMUSP00000088845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091299] [ENSMUST00000225990]
AlphaFold Q03147
Predicted Effect probably benign
Transcript: ENSMUST00000091299
AA Change: I272V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000088845
Gene: ENSMUSG00000069089
AA Change: I272V

DomainStartEndE-ValueType
S_TKc 12 295 7.59e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225990
AA Change: I235V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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 protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null allele exhibit abnormal trophoblast layer morphology, abnormal inner cell mass apoptosis, and complete embryonic lethality during peri-implantation stages. Homoyzgous null MEFs display absent fibroblast proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 56,009,722 (GRCm39) Q777* probably null Het
Art1 T C 7: 101,756,405 (GRCm39) S199P probably damaging Het
Cadps2 A T 6: 23,838,808 (GRCm39) M110K probably damaging Het
Cdk13 C T 13: 17,978,101 (GRCm39) R379Q unknown Het
Cep350 T C 1: 155,829,148 (GRCm39) D192G probably damaging Het
Chrna6 C T 8: 27,903,844 (GRCm39) probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckmt1 T A 2: 121,191,258 (GRCm39) D223E probably benign Het
Col6a5 C T 9: 105,755,839 (GRCm39) R2195H probably damaging Het
D430041D05Rik C T 2: 104,087,287 (GRCm39) R563H probably benign Het
Defa29 A T 8: 21,816,990 (GRCm39) M1K probably null Het
Dnah11 A G 12: 117,930,368 (GRCm39) S3326P probably damaging Het
Dsg3 A G 18: 20,662,028 (GRCm39) D431G probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Fbln1 T A 15: 85,169,357 (GRCm39) F699I probably damaging Het
Fndc1 A G 17: 7,990,685 (GRCm39) S1004P unknown Het
Gpr15 T A 16: 58,538,076 (GRCm39) T338S probably benign Het
Grin2d T C 7: 45,483,171 (GRCm39) Y1002C unknown Het
Hk2 C T 6: 82,707,859 (GRCm39) M703I probably benign Het
Ifi213 A C 1: 173,422,748 (GRCm39) L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 C A 10: 26,917,113 (GRCm39) A2271S probably benign Het
Lmo7 A T 14: 102,137,899 (GRCm39) Q867L probably benign Het
Loxhd1 T A 18: 77,492,512 (GRCm39) S1427T possibly damaging Het
Lzts1 A G 8: 69,593,397 (GRCm39) V70A probably damaging Het
Mocs3 A G 2: 168,073,257 (GRCm39) T235A possibly damaging Het
Myo15a G A 11: 60,408,016 (GRCm39) R3168H probably damaging Het
Ndc1 A G 4: 107,240,802 (GRCm39) D260G possibly damaging Het
Nfam1 T C 15: 82,900,730 (GRCm39) D44G probably damaging Het
Or4a47 G A 2: 89,666,029 (GRCm39) Q87* probably null Het
Osbpl10 G A 9: 114,996,322 (GRCm39) R128H probably benign Het
Otx1 C A 11: 21,949,392 (GRCm39) V29L probably benign Het
Pogk A T 1: 166,229,511 (GRCm39) D113E possibly damaging Het
Ptgs2 T C 1: 149,978,472 (GRCm39) F195L probably damaging Het
Ptpn21 T A 12: 98,648,881 (GRCm39) E925V possibly damaging Het
Ranbp2 T C 10: 58,326,470 (GRCm39) F2714L possibly damaging Het
Rbm20 T G 19: 53,839,744 (GRCm39) I911S possibly damaging Het
Rwdd2b A G 16: 87,233,509 (GRCm39) V197A possibly damaging Het
Sel1l2 C G 2: 140,117,329 (GRCm39) A181P probably damaging Het
Sf1 A G 19: 6,422,368 (GRCm39) E234G possibly damaging Het
Skint2 A C 4: 112,483,197 (GRCm39) T201P probably damaging Het
Sra1 C T 18: 36,809,948 (GRCm39) R199H probably damaging Het
Svs5 A G 2: 164,079,712 (GRCm39) M65T probably benign Het
Tgif1 C A 17: 71,153,544 (GRCm39) probably benign Het
Tmem184c A G 8: 78,331,411 (GRCm39) W113R possibly damaging Het
Tmem30a T C 9: 79,681,432 (GRCm39) R282G probably benign Het
Top1 T A 2: 160,540,155 (GRCm39) Y244* probably null Het
Trank1 A G 9: 111,221,861 (GRCm39) Y2866C probably damaging Het
Trim7 A C 11: 48,740,346 (GRCm39) I148L probably damaging Het
Triml1 T A 8: 43,591,717 (GRCm39) M214L probably benign Het
Usp30 T G 5: 114,249,245 (GRCm39) V183G probably damaging Het
Vmn1r175 G A 7: 23,508,012 (GRCm39) S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,290,946 (GRCm39) probably benign Het
Zfp108 T A 7: 23,960,602 (GRCm39) C398S probably damaging Het
Zfp592 T G 7: 80,673,940 (GRCm39) D301E probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Cdk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0055:Cdk7 UTSW 13 100,855,812 (GRCm39) nonsense probably null
R0208:Cdk7 UTSW 13 100,843,022 (GRCm39) missense probably benign
R0361:Cdk7 UTSW 13 100,848,062 (GRCm39) nonsense probably null
R2030:Cdk7 UTSW 13 100,859,182 (GRCm39) splice site probably benign
R4994:Cdk7 UTSW 13 100,854,103 (GRCm39) missense probably damaging 1.00
R5121:Cdk7 UTSW 13 100,854,192 (GRCm39) critical splice acceptor site probably null
R5252:Cdk7 UTSW 13 100,866,968 (GRCm39) nonsense probably null
R5527:Cdk7 UTSW 13 100,866,980 (GRCm39) missense probably damaging 1.00
R7008:Cdk7 UTSW 13 100,854,129 (GRCm39) missense probably damaging 0.99
R9016:Cdk7 UTSW 13 100,854,126 (GRCm39) missense probably benign 0.43
R9399:Cdk7 UTSW 13 100,840,988 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTCAGGAAAGGACACAAATATAC -3'
(R):5'- AACTGTGCTTGGCGGATATGT -3'

Sequencing Primer
(F):5'- GCTACTAAGTAGGTTTTCTAGT -3'
(R):5'- ATATTTCAGACCATGAGCCTCG -3'
Posted On 2020-06-30