Mutagenetix > Incidental Mutation

Incidental Mutation 'R3721:Cdc73'

258886

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

040712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143598800-143702893 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143695453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 83 (I83V)

Ref Sequence

ENSEMBL: ENSMUSP00000018337 (fasta)

Gene Model

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

AlphaFold

Q8JZM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018337
AA Change: I83V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018337
Gene: ENSMUSG00000026361
AA Change: I83V

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

probably benign
Transcript: ENSMUST00000159794

SMART Domains

Protein: ENSMUSP00000139872
Gene: ENSMUSG00000026361

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212510

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	T	C	2: 48,892,138	S228P	probably damaging	Het
Adamts2	C	T	11: 50,773,211		probably benign	Het
Arhgap9	A	G	10: 127,328,971	E588G	possibly damaging	Het
Ash2l	C	G	8: 25,818,625	G453A	probably damaging	Het
Catsperg2	A	G	7: 29,705,102	V638A	probably benign	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Clec2e	C	A	6: 129,094,410	E155*	probably null	Het
Cyp3a59	T	A	5: 146,096,597	M181K	probably damaging	Het
Dars2	A	T	1: 161,063,308	V111E	probably benign	Het
Diras2	T	A	13: 52,508,023	I83F	probably damaging	Het
Dlg2	T	A	7: 91,711,800		probably null	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Emilin2	T	C	17: 71,273,454	N759S	probably benign	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fam102b	C	T	3: 108,979,767	R305Q	probably damaging	Het
Ggnbp1	T	C	17: 27,029,613	V52A	probably benign	Het
Gm5155	A	G	7: 17,902,738	T247A	probably benign	Het
Gpr171	A	G	3: 59,097,670	V228A	possibly damaging	Het
Gsta3	T	C	1: 21,260,089	M55T	probably benign	Het
Hectd3	T	A	4: 116,999,745	N496K	probably benign	Het
Hp1bp3	T	G	4: 138,239,608	F367V	probably damaging	Het
Il18rap	T	A	1: 40,537,088	L253Q	probably damaging	Het
Irs1	C	T	1: 82,290,085	G137S	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lair1	A	C	7: 4,010,783	L155R	probably damaging	Het
Larp7	A	G	3: 127,546,811	L126P	probably damaging	Het
Lhx1	G	A	11: 84,521,828	R89C	probably damaging	Het
Lypd4	C	A	7: 24,865,459	A85S	probably benign	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myh10	G	T	11: 68,813,052	R1863L	probably damaging	Het
Myo9a	G	A	9: 59,868,180	V1025I	probably benign	Het
Naa25	T	A	5: 121,431,556	D659E	probably benign	Het
Nol9	A	G	4: 152,039,706	S118G	probably benign	Het
Olfr497	G	T	7: 108,423,119	D183Y	probably damaging	Het
Olfr730	C	T	14: 50,186,680	C179Y	probably damaging	Het
Pde10a	T	A	17: 8,969,589	I907N	probably damaging	Het
Pkhd1	T	C	1: 20,585,655	D218G	probably benign	Het
Poll	A	G	19: 45,553,577	I430T	probably damaging	Het
Pomgnt1	T	G	4: 116,153,543		probably benign	Het
Rab6b	T	C	9: 103,167,174		probably null	Het
Rad1	T	C	15: 10,488,026	S79P	probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Rcc1	T	C	4: 132,337,814	K133E	possibly damaging	Het
Ric8a	T	C	7: 140,861,961		probably null	Het
Rnf135	G	T	11: 80,196,917	A231S	probably benign	Het
Rps6ka4	A	G	19: 6,839,277	V146A	possibly damaging	Het
Sh3bp4	A	G	1: 89,145,328	I633V	possibly damaging	Het
Slc2a2	T	A	3: 28,727,152	N446K	probably damaging	Het
Slc44a1	T	C	4: 53,491,445	Y61H	probably damaging	Het
Slc7a1	G	A	5: 148,335,533	R445*	probably null	Het
Smc5	T	C	19: 23,210,492	M911V	probably benign	Het
Sntb1	C	A	15: 55,642,818	R453L	probably benign	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Srrm2	CTCCTCTTCTTCCTCTTCTTCCTC	CTCCTCTTCTTCCTC	17: 23,822,575		probably benign	Het
Trpm1	T	G	7: 64,217,727		probably benign	Het
Tufm	T	C	7: 126,490,460	M442T	probably benign	Het
Ubn1	A	G	16: 5,073,378	N539S	possibly 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
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
R9431:Cdc73	UTSW	1	143670002	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACACAGCTTCTGGTAGGG -3'
(R):5'- TGTAAGTGTGGCCTCATAACATC -3'

Sequencing Primer
(F):5'- ACACAGCTTCTGGTAGGGTATTGAG -3'
(R):5'- GTGGCCTCATAACATCTTATAGTGC -3'

Posted On

2015-01-23