Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Rrm1'

84136

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 102457552 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000209955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211786

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Rrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rrm1	APN	7	102454507	nonsense	probably null
IGL03251:Rrm1	APN	7	102457206	missense	probably damaging	1.00
IGL03401:Rrm1	APN	7	102465744	missense	possibly damaging	0.81
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
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

Posted On

2013-11-11