Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Cdc73'

543613

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

044861-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143479014-143578631 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 143577887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018337] [ENSMUST00000159794]

AlphaFold

Q8JZM7

Predicted Effect

probably benign
Transcript: ENSMUST00000018337

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361

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

unknown
Transcript: ENSMUST00000159794
AA Change: R18W

SMART Domains

Protein: ENSMUSP00000139872
Gene: ENSMUSG00000026361
AA Change: R18W

Domain	Start	End	E-Value	Type
low complexity region	36	44	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	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
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'- ACCCCTCTTGAGGAATAACATC -3'
(R):5'- GCGACCTCTTTCCCTAAAGC -3'

Sequencing Primer
(F):5'- TCTTGAGGAATAACATCAACCTACC -3'
(R):5'- GCTCTGGGGAAAAAGTTATTCTC -3'

Posted On

2019-04-01