Mutagenetix > Incidental Mutations

Incidental Mutation 'R0548:Rrm1'

44974

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

038740-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 102467067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000209630]

AlphaFold

P07742

Predicted Effect

probably null
Transcript: ENSMUST00000033283

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978

Domain	Start	End	E-Value	Type
Pfam:ATP-cone	1	89	8.7e-21	PFAM
Pfam:Ribonuc_red_lgN	141	213	2.8e-25	PFAM
Pfam:Ribonuc_red_lgC	216	738	1.6e-197	PFAM
coiled coil region	749	778	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210543

Meta Mutation Damage Score

0.9592

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic letahlity before E3.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 40,826,467	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,528,983		probably null	Het
Agfg1	A	G	1: 82,886,431	T447A	probably damaging	Het
Ankrd37	C	T	8: 45,998,396		probably null	Het
Apob	A	T	12: 8,006,282	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,521,792		probably benign	Het
Brca2	C	A	5: 150,544,935	D2242E	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,349,142		probably null	Het
Cox10	A	T	11: 63,976,352	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,455,145	D408V	probably damaging	Het
Enam	A	T	5: 88,503,105	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,273,341	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,533,861	S95T	probably damaging	Het
Fiz1	A	T	7: 5,009,168	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,307,060		noncoding transcript	Het
Gm11595	A	T	11: 99,772,141	C238S	unknown	Het
Gm7589	T	G	9: 59,146,156		noncoding transcript	Het
H6pd	A	T	4: 149,981,616	V771E	probably damaging	Het
Htt	T	C	5: 34,870,746	L1782P	probably damaging	Het
Il33	T	C	19: 29,954,647	S147P	probably benign	Het
Lct	T	C	1: 128,285,195	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,537,638		probably benign	Het
Map1b	T	C	13: 99,431,683	K1510R	unknown	Het
Marco	T	C	1: 120,492,038	T187A	probably benign	Het
Mki67	T	A	7: 135,695,256	K2683M	probably damaging	Het
Mki67	A	T	7: 135,696,908	N2132K	possibly damaging	Het
Mmp15	T	C	8: 95,372,351	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,378,800	M536L	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,808,153	V1182L	probably benign	Het
Nlrc5	C	A	8: 94,521,783	F1715L	probably null	Het
Nsd2	T	A	5: 33,893,538	V1253E	probably damaging	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1225	C	A	2: 89,170,648	C188F	probably damaging	Het
Olfr1537	A	T	9: 39,238,371	S18T	probably benign	Het
Olfr437	T	A	6: 43,167,187	I43K	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,748,449		probably benign	Het
Pi4ka	A	T	16: 17,307,718	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,158,015	I1751N	probably damaging	Het
Postn	C	A	3: 54,367,576	S122*	probably null	Het
Ppp4r4	A	T	12: 103,612,815	R762*	probably null	Het
Rrp15	A	G	1: 186,736,234	V195A	probably benign	Het
Rtl1	T	A	12: 109,591,655	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,631,219		probably benign	Het
Scn10a	T	C	9: 119,665,928	K416E	probably benign	Het
Serping1	T	C	2: 84,770,081		probably benign	Het
Slc12a6	T	C	2: 112,335,924		probably null	Het
Smo	A	T	6: 29,759,586	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,982,188		probably benign	Het
Tars2	T	C	3: 95,742,659	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,838,038	V240A	probably damaging	Het
Tmem232	G	A	17: 65,382,620	T500I	probably benign	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Toporsl	G	A	4: 52,612,140	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,025,081	F65I	probably damaging	Het
Wdfy4	C	T	14: 33,042,621	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,227,315	D344E	probably benign	Het
Xirp2	C	T	2: 67,514,414	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,494,944	K1381R	probably benign	Het
Zscan18	G	T	7: 12,774,176	P466T	probably damaging	Het

Other mutations in Rrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rrm1	APN	7	102454507	nonsense	probably null
IGL01431:Rrm1	APN	7	102457552	splice site	probably benign
IGL03251:Rrm1	APN	7	102457206	missense	probably damaging	1.00
IGL03401:Rrm1	APN	7	102465744	missense	possibly damaging	0.81
Arabica	UTSW	7	102460351	missense	probably damaging	1.00
Pentose	UTSW	7	102460856	splice site	probably null
R0454:Rrm1	UTSW	7	102466926	missense	probably damaging	1.00
R0759:Rrm1	UTSW	7	102457561	missense	probably benign	0.32
R1575:Rrm1	UTSW	7	102456514	missense	probably damaging	1.00
R1586:Rrm1	UTSW	7	102466905	makesense	probably null
R1625:Rrm1	UTSW	7	102468347	missense	probably damaging	0.98
R2207:Rrm1	UTSW	7	102442026	start codon destroyed	probably null	0.98
R2432:Rrm1	UTSW	7	102443072	missense	probably benign	0.03
R2513:Rrm1	UTSW	7	102460689	missense	probably damaging	0.99
R3796:Rrm1	UTSW	7	102465703	splice site	probably null
R3914:Rrm1	UTSW	7	102457174	missense	probably damaging	1.00
R4179:Rrm1	UTSW	7	102457198	missense	probably damaging	1.00
R4302:Rrm1	UTSW	7	102447824	missense	probably benign	0.00
R4379:Rrm1	UTSW	7	102446593	missense	probably damaging	1.00
R4416:Rrm1	UTSW	7	102447801	missense	probably benign	0.06
R4690:Rrm1	UTSW	7	102447879	missense	probably benign
R4939:Rrm1	UTSW	7	102466924	missense	probably benign	0.34
R5433:Rrm1	UTSW	7	102465767	missense	probably damaging	0.97
R5445:Rrm1	UTSW	7	102451023	missense	possibly damaging	0.77
R6120:Rrm1	UTSW	7	102460856	splice site	probably null
R6198:Rrm1	UTSW	7	102446729	critical splice donor site	probably null
R6369:Rrm1	UTSW	7	102446702	missense	probably damaging	0.97
R6699:Rrm1	UTSW	7	102460825	missense	probably damaging	1.00
R7009:Rrm1	UTSW	7	102460334	missense	probably damaging	1.00
R7491:Rrm1	UTSW	7	102454557	missense	probably damaging	1.00
R8024:Rrm1	UTSW	7	102457265	missense	probably benign	0.00
R8276:Rrm1	UTSW	7	102460852	critical splice donor site	probably null
R8713:Rrm1	UTSW	7	102460351	missense	probably damaging	1.00
R8963:Rrm1	UTSW	7	102456532	missense	probably benign	0.23
R8968:Rrm1	UTSW	7	102468338	missense	probably benign	0.03
R9028:Rrm1	UTSW	7	102460398	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGAAATTCCTGATGACCTGAAGC -3'
(R):5'- TGCAAGCGAGTCACTGTTCTAGC -3'

Sequencing Primer
(F):5'- TGAAGCAACTCTATAAGACCGTG -3'
(R):5'- ctcaatccccagcaccc -3'

Posted On

2013-06-11