Incidental Mutation 'R9399:Cdk7'
ID 711014
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100839139-100867447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100840988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 308 (P308Q)
Ref Sequence ENSEMBL: ENSMUSP00000088845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091299] [ENSMUST00000225990]
AlphaFold Q03147
Predicted Effect probably damaging
Transcript: ENSMUST00000091299
AA Change: P308Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088845
Gene: ENSMUSG00000069089
AA Change: P308Q

DomainStartEndE-ValueType
S_TKc 12 295 7.59e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000225990
AA Change: P271Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,384,615 (GRCm39) L450R probably damaging Het
4933427I04Rik T A 4: 123,754,413 (GRCm39) L109* probably null Het
Amotl2 T C 9: 102,606,531 (GRCm39) L576P probably damaging Het
Ankrd11 T C 8: 123,618,179 (GRCm39) N1891S probably benign Het
Arap2 T A 5: 62,763,455 (GRCm39) H1563L possibly damaging Het
Astn2 T C 4: 65,664,588 (GRCm39) T732A possibly damaging Het
Atp2b2 A G 6: 113,780,713 (GRCm39) I312T probably benign Het
Bcl9 C T 3: 97,113,289 (GRCm39) M1055I probably benign Het
Carm1 A G 9: 21,486,791 (GRCm39) N180D possibly damaging Het
Cd180 A T 13: 102,842,021 (GRCm39) T356S probably benign Het
Cdh18 A C 15: 23,173,899 (GRCm39) T38P probably damaging Het
Chd5 C T 4: 152,468,592 (GRCm39) A1715V probably benign Het
Clptm1 A T 7: 19,367,842 (GRCm39) V590D probably damaging Het
Col18a1 C T 10: 76,916,584 (GRCm39) G364R unknown Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Fgfr4 C T 13: 55,304,293 (GRCm39) T111M probably damaging Het
Fndc8 A T 11: 82,788,739 (GRCm39) T190S probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Glra3 T A 8: 56,542,079 (GRCm39) I274N probably damaging Het
Gpsm2 G A 3: 108,590,090 (GRCm39) R499* probably null Het
Gzme T A 14: 56,355,796 (GRCm39) D172V probably damaging Het
Ift88 T A 14: 57,717,385 (GRCm39) D536E probably benign Het
Itih3 T C 14: 30,643,335 (GRCm39) T151A probably benign Het
Kctd7 T C 5: 130,177,033 (GRCm39) Y95H probably damaging Het
Lipe A T 7: 25,097,227 (GRCm39) C239S probably benign Het
Lpcat3 T C 6: 124,640,283 (GRCm39) S38P probably benign Het
Mical2 C T 7: 111,946,082 (GRCm39) R1015C probably damaging Het
Midn C T 10: 79,992,210 (GRCm39) R421* probably null Het
Mmp17 A T 5: 129,671,686 (GRCm39) K79* probably null Het
Or8b39 A G 9: 37,997,020 (GRCm39) H296R probably benign Het
Or8k16 G C 2: 85,520,395 (GRCm39) L207F probably damaging Het
Pla2r1 A G 2: 60,282,744 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,755,010 (GRCm39) V79A probably damaging Het
Prkd3 G T 17: 79,264,719 (GRCm39) P633H probably damaging Het
Prss40 T A 1: 34,591,794 (GRCm39) S294C probably damaging Het
Raph1 T A 1: 60,565,154 (GRCm39) Q111L probably benign Het
Rufy3 A T 5: 88,797,725 (GRCm39) N634I possibly damaging Het
Sel1l3 A C 5: 53,265,486 (GRCm39) V1102G probably benign Het
Sh2b1 AGCTCAGCC AGCTCAGCCCCGGGGACCCGCTCAGCC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 GG GGCACCAGCTCAGCCCCGCG 7: 126,066,762 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGACCAGCTCAGCCACG GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG 7: 126,066,744 (GRCm39) probably benign Het
Slc25a23 C A 17: 57,360,930 (GRCm39) G165C probably damaging Het
Spata31e1 T A 13: 49,940,175 (GRCm39) T512S possibly damaging Het
Sytl2 T A 7: 90,041,658 (GRCm39) D585E probably benign Het
Ttc14 A G 3: 33,858,856 (GRCm39) T372A possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r82 T A 10: 79,214,768 (GRCm39) Y250* probably null Het
Vmn2r92 T A 17: 18,389,137 (GRCm39) S484T probably benign 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
R8100:Cdk7 UTSW 13 100,842,925 (GRCm39) missense probably benign 0.03
R9016:Cdk7 UTSW 13 100,854,126 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- CTTCCAGTTGCTAGCTATGTATGAG -3'
(R):5'- CAGGCATGTAAAGCATTCCTTTTG -3'

Sequencing Primer
(F):5'- CCTTGTTCTAAGGCCTCTG -3'
(R):5'- CATGGTCGTACATGGCTGTAACC -3'
Posted On 2022-04-18