Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Cdc73'

236758

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

040210-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143479014-143578631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143485120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 516 (E516V)

Ref Sequence

ENSEMBL: ENSMUSP00000018337 (fasta)

Gene Model

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

AlphaFold

Q8JZM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000018337
AA Change: E516V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: E516V

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

0.6458

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,655,463 (GRCm39)	L56P	probably damaging	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Cyp4x1	G	T	4: 114,983,791 (GRCm39)	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lmod3	T	C	6: 97,224,838 (GRCm39)	I328V	probably benign	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Or11h4b	T	C	14: 50,919,020 (GRCm39)	I24V	probably benign	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,976,602 (GRCm39)	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	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
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'- TCTTGTGCCATCTAACAGGCTC -3'
(R):5'- CGTTTTGGCTGTTTCAGAGATCAC -3'

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

Posted On

2014-10-02