Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Cdc73'

448320

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

043390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143598800-143702893 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143608543 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 525 (H525L)

Ref Sequence

ENSEMBL: ENSMUSP00000018337 (fasta)

Gene Model

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

AlphaFold

Q8JZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000018337
AA Change: H525L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: H525L

Domain	Start	End	E-Value	Type
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

0.1026

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	C	T	3: 89,342,361	V667I	probably damaging	Het
Adamts14	T	C	10: 61,202,996	S912G	probably damaging	Het
Adamts20	C	A	15: 94,347,670	E584*	probably null	Het
Ago3	A	T	4: 126,371,768	N284K	possibly damaging	Het
Alx3	T	A	3: 107,604,941	Y298*	probably null	Het
Arhgap32	A	G	9: 32,255,788	I574V	probably benign	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,803,473	D400G	probably damaging	Het
Cep135	A	G	5: 76,630,676	E674G	probably damaging	Het
Cic	G	A	7: 25,271,438	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,389,481		probably null	Het
Col6a5	A	G	9: 105,948,367	V9A	unknown	Het
Cpsf7	A	T	19: 10,539,632	D366V	probably benign	Het
Cuedc2	T	C	19: 46,331,357	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,604,569	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,566,497		probably null	Het
Dennd1b	T	A	1: 139,039,989		probably null	Het
Dpy19l3	T	C	7: 35,725,298	T111A	probably benign	Het
Edn1	C	A	13: 42,306,806	A179E	probably benign	Het
Eif2b1	T	C	5: 124,574,712		probably null	Het
Epha5	A	G	5: 84,331,226		probably null	Het
Erc1	T	A	6: 119,773,822	N466I	probably damaging	Het
Ermp1	A	G	19: 29,612,828	F825L	probably damaging	Het
Fbxo18	T	C	2: 11,769,826	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,484,533	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,421,389	S14P	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm6505	A	T	3: 28,764,967		noncoding transcript	Het
Ighv1-18	T	A	12: 114,682,708	D91V	probably damaging	Het
Imp3	A	G	9: 56,937,802	D99G	probably benign	Het
Iqub	T	C	6: 24,449,769	K699R	probably benign	Het
Itpk1	A	G	12: 102,573,945	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,836,510	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,447,796	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,301,786	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,301,882	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,402,268	T54A	probably damaging	Het
Ociad2	A	G	5: 73,326,299	F60S	probably damaging	Het
Olfr397	T	C	11: 73,964,946	F113L	probably benign	Het
Polk	T	A	13: 96,483,586	H723L	probably damaging	Het
Prickle4	C	A	17: 47,688,773	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,654,922	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,337,600	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,970,056	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,270,073	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,989,783	S155P	probably damaging	Het
Safb2	T	C	17: 56,563,103	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,356,816	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,172,083	F482L	probably benign	Het
Slc35e3	T	A	10: 117,745,862	M109L	probably benign	Het
Slco4c1	T	C	1: 96,872,084	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,947,631		noncoding transcript	Het
Sptan1	A	G	2: 30,030,601		probably null	Het
Sptlc2	T	C	12: 87,341,771		probably null	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Strip1	A	C	3: 107,621,441	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,557,153	S387T	probably benign	Het
Thbs2	A	T	17: 14,687,863	F213I	probably damaging	Het
Thbs3	A	T	3: 89,224,397	Y692F	probably benign	Het
Tktl2	C	A	8: 66,513,647	A619E	probably benign	Het
Tmc3	A	T	7: 83,622,478	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,784,900	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,898,078	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 127,022,837		probably null	Het
Wdr35	A	G	12: 9,006,723	T503A	possibly damaging	Het
Zfp109	T	C	7: 24,228,701	K436E	probably damaging	Het
Zfp423	A	G	8: 87,859,362	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,473,358	K26E	probably damaging	Het

Other mutations in Cdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9431:Cdc73	UTSW	1	143670002	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGCCCCTTTGAAGCACAC -3'
(R):5'- TTCCAGGAAGCTGGTAGTTTATAG -3'

Sequencing Primer
(F):5'- CAGCATCAAACAAGGTCTTATAAAAG -3'
(R):5'- TGCTTACTAATTTTCCGAAGTTACAG -3'

Posted On

2016-12-15