Incidental Mutation 'R5252:Cdk7'
ID 399144
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 042823-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5252 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100839139-100867447 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 100866968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 42 (K42*)
Ref Sequence ENSEMBL: ENSMUSP00000153369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091299] [ENSMUST00000225990]
AlphaFold Q03147
Predicted Effect probably null
Transcript: ENSMUST00000091299
AA Change: K42*
SMART Domains Protein: ENSMUSP00000088845
Gene: ENSMUSG00000069089
AA Change: K42*

DomainStartEndE-ValueType
S_TKc 12 295 7.59e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225056
Predicted Effect probably null
Transcript: ENSMUST00000225990
AA Change: K42*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,056,762 (GRCm39) R386L probably damaging Het
Ano8 A T 8: 71,935,261 (GRCm39) Y346N probably damaging Het
Cabp4 T C 19: 4,186,067 (GRCm39) probably benign Het
Canx A T 11: 50,199,621 (GRCm39) I148N probably damaging Het
Ccdc141 A G 2: 76,962,593 (GRCm39) V117A probably benign Het
Cdk12 A T 11: 98,134,335 (GRCm39) N1078Y unknown Het
Col6a5 T C 9: 105,817,489 (GRCm39) D274G unknown Het
Cux1 T C 5: 136,337,151 (GRCm39) E696G probably damaging Het
Cxxc1 C T 18: 74,353,022 (GRCm39) A444V probably benign Het
Dll1 T C 17: 15,588,951 (GRCm39) K575E probably damaging Het
Dnah11 A G 12: 118,089,676 (GRCm39) F1130S probably damaging Het
Dnah2 A G 11: 69,420,295 (GRCm39) F140L probably damaging Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Evi5 T C 5: 107,943,618 (GRCm39) T592A probably benign Het
Fas T C 19: 34,294,043 (GRCm39) S133P probably damaging Het
Gpr139 A G 7: 118,744,427 (GRCm39) S53P probably benign Het
H2-Q4 T C 17: 35,599,411 (GRCm39) F165L probably benign Het
Ighv9-2 A G 12: 114,072,838 (GRCm39) V45A probably benign Het
Inpp1 T G 1: 52,833,706 (GRCm39) D130A probably benign Het
Lin54 C T 5: 100,628,063 (GRCm39) V47I probably benign Het
Nav3 TGAAGAAGAAGAAGA TGAAGAAGAAGA 10: 109,550,152 (GRCm39) probably benign Het
Nexn T C 3: 151,943,590 (GRCm39) T438A probably benign Het
Or4c112 A T 2: 88,853,598 (GRCm39) F250I probably damaging Het
Or8g4 T G 9: 39,661,784 (GRCm39) I34S probably damaging Het
Pilrb1 T A 5: 137,853,315 (GRCm39) M163L probably benign Het
Pkhd1 A T 1: 20,420,635 (GRCm39) probably null Het
Ppard G A 17: 28,517,822 (GRCm39) V297I probably benign Het
Rabgap1 T C 2: 37,365,369 (GRCm39) V214A probably benign Het
Serpinc1 T C 1: 160,817,191 (GRCm39) F95S probably damaging Het
Slc5a8 T C 10: 88,742,209 (GRCm39) Y302H probably damaging Het
Slco4a1 G A 2: 180,106,252 (GRCm39) A145T possibly damaging Het
Spata31g1 T A 4: 42,971,706 (GRCm39) F346L probably benign Het
Sptlc2 A T 12: 87,382,829 (GRCm39) M425K possibly damaging Het
Tent5c A G 3: 100,380,024 (GRCm39) L244P probably damaging Het
Trp53bp1 A G 2: 121,074,464 (GRCm39) S429P probably benign Het
Unc13a T A 8: 72,105,208 (GRCm39) T723S probably damaging Het
Ush2a A T 1: 188,553,914 (GRCm39) I3468F possibly damaging Het
Utp20 A T 10: 88,586,532 (GRCm39) D2547E probably benign Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Zfyve26 A G 12: 79,315,756 (GRCm39) L1240P probably damaging 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
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
R9399:Cdk7 UTSW 13 100,840,988 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTAAGAGTTGCCTGGCG -3'
(R):5'- TGAAGAAGAGGCCTCCAGAC -3'

Sequencing Primer
(F):5'- CCTGGCGTGGTGGAGTAC -3'
(R):5'- TCCAGACCACGTAGCAGG -3'
Posted On 2016-07-06