Mutagenetix > Incidental Mutations

Incidental Mutation 'R2432:Rrm1'

250447

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

040393-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102443072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 35 (D35E)

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000211720]

AlphaFold

P07742

Predicted Effect

probably benign
Transcript: ENSMUST00000033283
AA Change: D35E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: D35E

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

noncoding transcript
Transcript: ENSMUST00000210751

Predicted Effect

probably benign
Transcript: ENSMUST00000211720

Meta Mutation Damage Score

0.0859

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,451,333		probably benign	Het
Adamts6	A	T	13: 104,426,977	Y659F	probably benign	Het
Adamts9	C	A	6: 92,857,900	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,540,132		probably null	Het
Aspscr1	A	G	11: 120,702,566		probably benign	Het
Calr3	A	G	8: 72,438,426		probably benign	Het
Cpt2	A	T	4: 107,904,526	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,619,011	L94P	probably damaging	Het
Def6	A	T	17: 28,228,069	D558V	probably benign	Het
Dnase1l2	G	A	17: 24,442,725	T20I	possibly damaging	Het
Eif5b	A	G	1: 38,019,342	K242E	unknown	Het
Golim4	T	C	3: 75,891,942	N478S	possibly damaging	Het
Helb	A	T	10: 120,105,537	D415E	probably benign	Het
Ifna12	T	A	4: 88,603,353		probably benign	Het
Jhy	T	A	9: 40,960,886	H109L	probably benign	Het
Krt83	A	T	15: 101,488,156	Y241*	probably null	Het
Macf1	G	T	4: 123,683,996	A65E	probably damaging	Het
Mug2	C	A	6: 122,084,376	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,575,849	D21G	probably damaging	Het
Myo5a	T	A	9: 75,212,873	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,153,804	C598S	probably damaging	Het
Npat	A	T	9: 53,558,135	H307L	probably damaging	Het
Nr1h2	T	C	7: 44,551,367	Q279R	possibly damaging	Het
Olfr1302	T	C	2: 111,780,671	V117A	probably benign	Het
Olfr804	A	G	10: 129,704,925	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,479,930	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,150,791	S971R	probably damaging	Het
Plch2	A	G	4: 154,986,164	*494Q	probably null	Het
Plekhg4	T	A	8: 105,381,836	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,937,856	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,307,799	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,651,852	M191R	probably benign	Het
Prdm14	T	C	1: 13,125,633	D68G	probably benign	Het
Prp2	C	T	6: 132,599,911	P54S	unknown	Het
Prpf4b	A	G	13: 34,883,341		probably benign	Het
Ptprk	T	A	10: 28,592,844	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,956,250	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,554,405	F621S	probably damaging	Het
Rxfp3	T	C	15: 11,036,140	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,383,751		probably benign	Het
Slc25a13	A	T	6: 6,114,017	M285K	probably benign	Het
Slc30a3	T	C	5: 31,088,694	S231G	probably damaging	Het
Slc44a2	A	T	9: 21,344,834	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,019	I244V	possibly damaging	Het
Tenm2	C	A	11: 36,027,191	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,310,590	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,465,104		probably benign	Het
Ttc6	C	T	12: 57,622,035	P421L	possibly damaging	Het
Usp16	T	A	16: 87,466,358		probably null	Het
Usp40	T	C	1: 87,982,082	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,488,702	Y182C	probably damaging	Het
Zfp382	A	G	7: 30,133,749	D275G	probably benign	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
R0548:Rrm1	UTSW	7	102467067	critical splice donor site	probably null
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
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'- TTAACCACTGAGCAGTCTCTG -3'
(R):5'- TCATGTTCTGAGTTCTCCAGG -3'

Sequencing Primer
(F):5'- GTCTCTGCAGACCCCAAAG -3'
(R):5'- TCTGAGTTCTCCAGGAAATGAG -3'

Posted On

2014-11-12