Incidental Mutation 'R1411:Cdc73'
ID 200789
Institutional Source Beutler Lab
Gene Symbol Cdc73
Ensembl Gene ENSMUSG00000026361
Gene Name cell division cycle 73, Paf1/RNA polymerase II complex component
Synonyms Hrpt2, C130030P16Rik, 8430414L16Rik
MMRRC Submission 039467-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1411 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 143479014-143578631 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 143485252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018337]
AlphaFold Q8JZM7
Predicted Effect probably benign
Transcript: ENSMUST00000018337
SMART Domains Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361

DomainStartEndE-ValueType
Pfam:CDC73_N 1 297 3.4e-135 PFAM
Pfam:CDC73_C 356 521 2.6e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162638
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around hatching or implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,374 (GRCm39) I85F probably damaging Het
Acp4 A G 7: 43,906,267 (GRCm39) probably benign Het
Baz1b T C 5: 135,259,177 (GRCm39) F1080L possibly damaging Het
Cbx5 A T 15: 103,121,547 (GRCm39) M30K probably benign Het
Cdcp1 A T 9: 123,019,177 (GRCm39) L34Q probably damaging Het
Chd8 C T 14: 52,462,103 (GRCm39) V738I probably benign Het
Cpeb2 T G 5: 43,391,113 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,627,035 (GRCm39) D265V probably damaging Het
Cyp2j11 A G 4: 96,233,453 (GRCm39) I81T probably benign Het
Dbx2 T C 15: 95,530,262 (GRCm39) E235G probably damaging Het
Dgkq C A 5: 108,798,228 (GRCm39) V677F probably damaging Het
Ercc5 A G 1: 44,217,441 (GRCm39) N928S probably damaging Het
Flt1 C T 5: 147,517,126 (GRCm39) V1054M probably damaging Het
Flywch1 T C 17: 23,974,798 (GRCm39) D614G probably damaging Het
Frmd3 T C 4: 74,071,858 (GRCm39) F247L probably damaging Het
Gm1527 A G 3: 28,968,632 (GRCm39) N228S probably benign Het
Gpld1 T A 13: 25,146,791 (GRCm39) L251Q probably damaging Het
Gvin-ps3 C T 7: 105,682,686 (GRCm39) A190T probably benign Het
Gzma C T 13: 113,232,742 (GRCm39) V117I probably benign Het
Hydin C A 8: 111,301,663 (GRCm39) T3798K probably benign Het
Il1rapl1 T A X: 85,790,904 (GRCm39) S679C possibly damaging Het
Lrrc8c G A 5: 105,756,045 (GRCm39) A607T probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mfsd4b4 A T 10: 39,768,136 (GRCm39) M319K probably damaging Het
Mroh2b A C 15: 4,947,799 (GRCm39) H538P probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nup188 A G 2: 30,233,807 (GRCm39) T1733A probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Ofcc1 A G 13: 40,296,263 (GRCm39) S524P probably benign Het
Or6x1 C T 9: 40,098,435 (GRCm39) T8I possibly damaging Het
Padi4 C T 4: 140,479,914 (GRCm39) S413N probably damaging Het
Pdzrn4 A G 15: 92,668,894 (GRCm39) *1015W probably null Het
Pkhd1 G A 1: 20,444,120 (GRCm39) P2314L probably damaging Het
Serpinb9c C G 13: 33,335,817 (GRCm39) V212L probably benign Het
Slc25a23 A G 17: 57,366,622 (GRCm39) F18L probably damaging Het
Smarca4 C A 9: 21,570,251 (GRCm39) N751K probably damaging Het
Tfip11 G T 5: 112,480,899 (GRCm39) V292L probably benign Het
Tnrc18 T C 5: 142,751,702 (GRCm39) K1201R unknown Het
Vmn1r199 T C 13: 22,567,671 (GRCm39) F322L probably benign Het
Vmn1r201 T C 13: 22,658,849 (GRCm39) V21A probably benign Het
Vmn2r108 A T 17: 20,683,107 (GRCm39) I699K probably damaging Het
Vmn2r117 T C 17: 23,679,527 (GRCm39) N566D probably damaging Het
Wdr12 A T 1: 60,127,231 (GRCm39) D141E probably benign Het
Zfp974 A G 7: 27,610,634 (GRCm39) S364P probably benign Het
Other mutations in Cdc73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cdc73 APN 1 143,547,070 (GRCm39) missense probably benign 0.10
IGL01598:Cdc73 APN 1 143,575,017 (GRCm39) missense probably damaging 1.00
R0648:Cdc73 UTSW 1 143,571,200 (GRCm39) missense probably benign 0.00
R1299:Cdc73 UTSW 1 143,575,019 (GRCm39) missense probably benign 0.00
R1342:Cdc73 UTSW 1 143,578,230 (GRCm39) critical splice donor site probably null
R1837:Cdc73 UTSW 1 143,543,395 (GRCm39) missense possibly damaging 0.46
R2208:Cdc73 UTSW 1 143,485,120 (GRCm39) missense probably damaging 1.00
R3721:Cdc73 UTSW 1 143,571,191 (GRCm39) missense possibly damaging 0.77
R3797:Cdc73 UTSW 1 143,553,461 (GRCm39) missense probably benign 0.22
R4088:Cdc73 UTSW 1 143,484,252 (GRCm39) utr 3 prime probably benign
R4603:Cdc73 UTSW 1 143,553,595 (GRCm39) critical splice acceptor site probably null
R4782:Cdc73 UTSW 1 143,503,613 (GRCm39) missense probably benign 0.10
R4799:Cdc73 UTSW 1 143,503,613 (GRCm39) missense probably benign 0.10
R5512:Cdc73 UTSW 1 143,578,354 (GRCm39) missense probably damaging 1.00
R5801:Cdc73 UTSW 1 143,484,281 (GRCm39) missense probably benign 0.01
R6006:Cdc73 UTSW 1 143,493,177 (GRCm39) missense probably damaging 1.00
R6258:Cdc73 UTSW 1 143,567,211 (GRCm39) missense probably benign 0.32
R6260:Cdc73 UTSW 1 143,567,211 (GRCm39) missense probably benign 0.32
R6744:Cdc73 UTSW 1 143,577,887 (GRCm39) intron probably benign
R8513:Cdc73 UTSW 1 143,493,129 (GRCm39) nonsense probably null
R9030:Cdc73 UTSW 1 143,485,234 (GRCm39) missense probably damaging 1.00
R9431:Cdc73 UTSW 1 143,545,740 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTTTCTTGTGCCATCTAACAGGCTC -3'
(R):5'- ACCGTTTTGGCTGTTTCAGAGATCAC -3'

Sequencing Primer
(F):5'- TGTGCCATCTAACAGGCTCTAAAC -3'
(R):5'- GGCTGTTTCAGAGATCACTAATTAC -3'
Posted On 2014-05-23