Incidental Mutation 'R9431:Cdc73'
ID 712937
Institutional Source Beutler Lab
Gene Symbol Cdc73
Ensembl Gene ENSMUSG00000026361
Gene Name cell division cycle 73, Paf1/RNA polymerase II complex component
Synonyms Hrpt2, 8430414L16Rik, C130030P16Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9431 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 143598800-143702893 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 143670002 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 299 (K299*)
Ref Sequence ENSEMBL: ENSMUSP00000018337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018337]
AlphaFold Q8JZM7
Predicted Effect probably null
Transcript: ENSMUST00000018337
AA Change: K299*
SMART Domains Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: K299*

DomainStartEndE-ValueType
Pfam:CDC73_N 1 297 3.4e-135 PFAM
Pfam:CDC73_C 356 521 2.6e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A C 5: 87,972,466 I361L possibly damaging Het
Aebp2 C T 6: 140,646,868 P446L probably damaging Het
Arhgap32 C A 9: 32,259,167 A1081D probably damaging Het
Btbd16 C T 7: 130,815,786 R344C probably damaging Het
Cpq C T 15: 33,249,932 T145I probably benign Het
Creb1 C A 1: 64,576,254 A215E probably damaging Het
D630045J12Rik G T 6: 38,196,879 A118E probably benign Het
Ddx58 A G 4: 40,229,545 S125P probably benign Het
Dnah7a A T 1: 53,411,653 F3873I possibly damaging Het
Dock10 T C 1: 80,605,876 Y203C probably damaging Het
Evi5 A G 5: 107,842,284 V23A probably damaging Het
Fat2 T C 11: 55,252,012 D4337G probably damaging Het
Fbxl17 G A 17: 63,080,494 T631I probably damaging Het
Fktn G A 4: 53,734,854 G125D probably benign Het
Focad A G 4: 88,403,346 M1559V unknown Het
Fras1 A T 5: 96,753,014 I3031L possibly damaging Het
Gm765 T C 6: 98,238,203 H153R probably benign Het
Gnas T C 2: 174,298,033 S58P unknown Het
Hdac9 G A 12: 34,390,328 Q351* probably null Het
Ibsp A T 5: 104,309,301 N92I probably damaging Het
Kank1 C A 19: 25,410,502 T513N probably damaging Het
Kcnh1 A G 1: 192,418,815 T599A probably benign Het
Kdm5a T A 6: 120,415,292 L992M probably damaging Het
Lipc T C 9: 70,816,607 Y245C probably damaging Het
Morc3 C A 16: 93,870,883 Y716* probably null Het
Mroh2b A T 15: 4,934,470 D848V probably damaging Het
Olfr10 A G 11: 49,317,632 I29V probably benign Het
Olfr197 A G 16: 59,185,727 V252A unknown Het
Olfr29-ps1 A C 4: 43,781,682 I216S possibly damaging Het
Olfr522 T A 7: 140,162,029 Q307L probably benign Het
Olfr715b T A 7: 107,106,129 H244L probably damaging Het
Patl1 A G 19: 11,921,451 E170G probably damaging Het
Rad17 A G 13: 100,643,566 V112A probably damaging Het
Sertad2 A T 11: 20,648,425 E207V probably benign Het
Slc12a5 T C 2: 164,990,258 V699A possibly damaging Het
Slc13a4 A G 6: 35,301,807 V49A probably damaging Het
Slc22a6 A G 19: 8,621,232 T218A probably benign Het
Slc30a9 A G 5: 67,347,935 D422G probably damaging Het
Slc37a3 T C 6: 39,347,429 Y295C possibly damaging Het
Slc39a8 T C 3: 135,858,162 V256A probably benign Het
Slc45a2 G A 15: 11,025,919 E452K possibly damaging Het
Slc4a11 C T 2: 130,691,744 A100T probably damaging Het
Slc7a12 G A 3: 14,480,975 C60Y probably damaging Het
St8sia3 T A 18: 64,265,569 L33Q probably damaging Het
Tiam1 A G 16: 89,798,030 probably null Het
Trim37 T A 11: 87,186,431 V529E probably benign Het
Trpv3 A T 11: 73,287,399 T431S probably benign Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,417,267 probably benign Het
Ttn C T 2: 76,714,335 V32808M probably damaging Het
Vmn2r27 T C 6: 124,191,897 Y758C probably damaging Het
Vwa5b2 C T 16: 20,604,296 P1015S probably benign Het
Whamm A G 7: 81,586,287 R413G probably damaging Het
Zbtb41 C T 1: 139,423,043 probably benign Het
Zfp119b A G 17: 55,939,536 S217P possibly damaging Het
Other mutations in Cdc73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Cdc73 APN 1 143671332 missense probably benign 0.10
IGL01598:Cdc73 APN 1 143699279 missense probably damaging 1.00
R0648:Cdc73 UTSW 1 143695462 missense probably benign 0.00
R1299:Cdc73 UTSW 1 143699281 missense probably benign 0.00
R1342:Cdc73 UTSW 1 143702492 critical splice donor site probably null
R1411:Cdc73 UTSW 1 143609514 splice site probably benign
R1837:Cdc73 UTSW 1 143667657 missense possibly damaging 0.46
R2208:Cdc73 UTSW 1 143609382 missense probably damaging 1.00
R3721:Cdc73 UTSW 1 143695453 missense possibly damaging 0.77
R3797:Cdc73 UTSW 1 143677723 missense probably benign 0.22
R4088:Cdc73 UTSW 1 143608514 utr 3 prime probably benign
R4603:Cdc73 UTSW 1 143677857 critical splice acceptor site probably null
R4782:Cdc73 UTSW 1 143627875 missense probably benign 0.10
R4799:Cdc73 UTSW 1 143627875 missense probably benign 0.10
R5512:Cdc73 UTSW 1 143702616 missense probably damaging 1.00
R5801:Cdc73 UTSW 1 143608543 missense probably benign 0.01
R6006:Cdc73 UTSW 1 143617439 missense probably damaging 1.00
R6258:Cdc73 UTSW 1 143691473 missense probably benign 0.32
R6260:Cdc73 UTSW 1 143691473 missense probably benign 0.32
R6744:Cdc73 UTSW 1 143702149 intron probably benign
R8513:Cdc73 UTSW 1 143617391 nonsense probably null
R9030:Cdc73 UTSW 1 143609496 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTGACAAGGTTTAAGCAAC -3'
(R):5'- TCAAAGGCCAAGTAGTCTACTTAC -3'

Sequencing Primer
(F):5'- TGAGTACACTTAAGACACAACAGAAG -3'
(R):5'- CATTGCGTACAAAACAGC -3'
Posted On 2022-05-16