Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:Cdc73'

686974

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

068859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143479014-143578631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143485234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 478 (L478H)

Ref Sequence

ENSEMBL: ENSMUSP00000018337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018337]

AlphaFold

Q8JZM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000018337
AA Change: L478H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: L478H

Domain	Start	End	E-Value	Type
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: 99.1%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	A	C	2: 158,474,321 (GRCm39)	I375L	probably benign	Het
Adgrl2	G	T	3: 148,544,761 (GRCm39)	T778K	possibly damaging	Het
Ccn3	A	T	15: 54,615,687 (GRCm39)	Y284F	probably damaging	Het
Cdh20	C	A	1: 110,027,843 (GRCm39)	H529Q	probably benign	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Ddit4	A	T	10: 59,786,515 (GRCm39)	L178Q	probably damaging	Het
Dgke	A	T	11: 88,941,237 (GRCm39)	N315K	possibly damaging	Het
Dsg1a	A	G	18: 20,473,549 (GRCm39)	D874G	probably damaging	Het
Dsp	T	A	13: 38,352,673 (GRCm39)	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,870,916 (GRCm39)	I20V	probably benign	Het
Ephx4	A	G	5: 107,577,549 (GRCm39)	H291R	possibly damaging	Het
Epx	A	T	11: 87,763,470 (GRCm39)	M250K	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,502,594 (GRCm39)	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,789,522 (GRCm39)	T227A	probably benign	Het
Gbp7	T	C	3: 142,243,798 (GRCm39)	I115T	probably damaging	Het
Gm5145	A	G	17: 20,791,270 (GRCm39)	E216G	probably benign	Het
Gm94	A	T	18: 43,914,326 (GRCm39)	F77L	possibly damaging	Het
Grik3	C	A	4: 125,526,185 (GRCm39)	H139Q	probably benign	Het
Gucy2e	T	C	11: 69,115,827 (GRCm39)	T852A	probably damaging	Het
Hif1a	T	C	12: 73,983,010 (GRCm39)	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,692,870 (GRCm39)	I268L	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,592,681 (GRCm39)	S87T		Het
Lrrc74b	A	G	16: 17,367,640 (GRCm39)		probably null	Het
Mapk10	T	C	5: 103,144,499 (GRCm39)	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,325,457 (GRCm39)	N738K	probably null	Het
Nlrp5	A	T	7: 23,129,573 (GRCm39)	Q880L	possibly damaging	Het
Or2y11	T	A	11: 49,442,808 (GRCm39)	V78E	probably damaging	Het
Or5d39	A	T	2: 87,979,718 (GRCm39)	I215N	possibly damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
P4htm	G	A	9: 108,474,627 (GRCm39)	P46L	probably benign	Het
Pcsk4	A	T	10: 80,164,858 (GRCm39)	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,385 (GRCm39)	S1917P	probably benign	Het
Pnpla5	A	G	15: 83,998,087 (GRCm39)	V385A	possibly damaging	Het
Prorp	T	C	12: 55,426,192 (GRCm39)	F514S	probably damaging	Het
Rims2	C	T	15: 39,339,873 (GRCm39)	R856C	probably damaging	Het
Rprd2	A	G	3: 95,691,622 (GRCm39)	Y218H	probably benign	Het
Sat2	T	A	11: 69,513,069 (GRCm39)		probably benign	Het
Sf1	C	T	19: 6,426,336 (GRCm39)	R186C		Het
Snrnp200	A	G	2: 127,053,466 (GRCm39)		probably benign	Het
Sqor	A	T	2: 122,629,514 (GRCm39)	D124V	probably benign	Het
Ssh2	A	G	11: 77,312,062 (GRCm39)	H191R	possibly damaging	Het
Stac	C	A	9: 111,519,320 (GRCm39)		probably benign	Het
Svs4	T	C	2: 164,119,058 (GRCm39)	M93V	unknown	Het
Tbc1d32	A	T	10: 56,037,241 (GRCm39)	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056 (GRCm39)	F690S	probably damaging	Het
Tex30	A	G	1: 44,130,356 (GRCm39)	M88T		Het
Tgfbrap1	T	C	1: 43,095,837 (GRCm39)	T534A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	T	C	5: 142,711,818 (GRCm39)	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb3	A	T	8: 124,145,696 (GRCm39)	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,690,312 (GRCm39)	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,603,864 (GRCm39)	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,885,424 (GRCm39)	V340M	probably damaging	Het
Zfp799	A	G	17: 33,039,565 (GRCm39)	F234L	possibly damaging	Het

Other mutations in Cdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1411:Cdc73	UTSW	1	143,485,252 (GRCm39)	splice site	probably benign
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
R9431:Cdc73	UTSW	1	143,545,740 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGACAATGTTCAAAGCAAGG -3'
(R):5'- ACCGTTTTGGCTGTTTCAGAGATC -3'

Sequencing Primer
(F):5'- GACAATGTTCAAAGCAAGGAATTAC -3'
(R):5'- GGCTGTTTCAGAGATCACTAATTAC -3'

Posted On

2021-11-19