Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Rrm1'

682855

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

068802-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R8968 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102468338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 745 (A745V)

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

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

AlphaFold

P07742

Predicted Effect

probably benign
Transcript: ENSMUST00000033283
AA Change: A745V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: A745V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,332,310	L1153*	probably null	Het
2410089E03Rik	A	T	15: 8,201,281	H1014L	possibly damaging	Het
2810474O19Rik	T	A	6: 149,327,166	V570D	probably damaging	Het
Adamts2	T	C	11: 50,792,723	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,138,203	C67*	probably null	Het
Armt1	G	T	10: 4,454,150	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243	D381G	probably benign	Het
Bmp5	A	T	9: 75,873,297	H292L	probably benign	Het
Brpf1	T	C	6: 113,322,549	F1181S	probably damaging	Het
Btbd7	C	A	12: 102,812,766	G414C	probably damaging	Het
Ccdc65	A	T	15: 98,718,842	K204*	probably null	Het
Cdk5	T	A	5: 24,422,381	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,992,808	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,178,627	E417G	unknown	Het
Cep135	T	C	5: 76,606,729	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,187,755	S226R	probably damaging	Het
Cfap97	T	A	8: 46,170,077	V168E	possibly damaging	Het
CN725425	T	C	15: 91,245,887	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,261,379	D393E	probably benign	Het
Cpsf1	G	A	15: 76,601,969	R358*	probably null	Het
Cyp2b23	G	A	7: 26,679,538	P167L	probably damaging	Het
Cyp2c70	A	T	19: 40,153,615	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,654,816	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,740,735	F216I	probably benign	Het
Dmgdh	A	T	13: 93,709,259	K474*	probably null	Het
Dsp	T	C	13: 38,151,620	I11T	possibly damaging	Het
Erh	G	T	12: 80,637,508	A65E	probably benign	Het
Fmnl1	AGGCTCTGG	AGG	11: 103,186,618		probably benign	Het
Grid2	A	C	6: 64,666,155	H967P	probably benign	Het
Hc	A	G	2: 35,032,305	I503T	possibly damaging	Het
Herc3	T	C	6: 58,890,198	L824S	probably damaging	Het
Hfm1	T	C	5: 106,917,573	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hspa1l	A	G	17: 34,977,254	K90E	possibly damaging	Het
Impa2	G	A	18: 67,318,427	V264I	probably benign	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Klhl38	C	T	15: 58,322,104	V410I	probably benign	Het
Lcn4	A	G	2: 26,668,348	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,749,517	W40L	probably damaging	Het
Mgam	A	T	6: 40,757,811		probably null	Het
Myo16	T	A	8: 10,569,700	I1417N	unknown	Het
Olfr1052	G	A	2: 86,298,182	R122H	probably benign	Het
Olfr1196	T	A	2: 88,700,793	I179F	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr603	A	T	7: 103,383,460	C181S	probably damaging	Het
Pcdha11	A	G	18: 37,012,254	N466S	probably damaging	Het
Pif1	C	T	9: 65,591,794	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Pole	T	C	5: 110,312,083	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,600,447	M652T	probably benign	Het
Prex2	A	T	1: 11,110,338	K376*	probably null	Het
Prps1l1	A	T	12: 34,985,206	I107F	probably damaging	Het
Rfc1	C	T	5: 65,275,435	V761I	probably benign	Het
Ripk4	T	C	16: 97,746,003	E353G	probably benign	Het
Robo2	C	A	16: 73,971,053		probably null	Het
Sash1	A	T	10: 8,730,415	V737D	probably benign	Het
Sel1l2	T	C	2: 140,285,289	K101E	probably benign	Het
Selenbp2	A	T	3: 94,700,030	I253F	probably benign	Het
Setd1a	C	T	7: 127,786,107	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,454,950	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,084,653	M239L	probably benign	Het
Slc7a8	G	C	14: 54,781,293	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517	S309P	possibly damaging	Het
Spen	T	C	4: 141,470,390	N3389S	probably benign	Het
Spg11	T	C	2: 122,092,206	T921A	probably damaging	Het
Tanc2	T	A	11: 105,867,574	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,894,329	I688F	possibly damaging	Het
Trap1	A	G	16: 4,044,626	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,030,187	R44L	probably benign	Het
Tusc3	T	A	8: 39,130,744	N288K	probably benign	Het
Ush2a	G	A	1: 188,395,759	G656E	probably damaging	Het
Vill	T	C	9: 119,063,603		probably null	Het
Vmn1r5	A	T	6: 56,986,197	R286*	probably null	Het
Vmn2r14	T	C	5: 109,217,667	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,474,205	H396Y	probably benign	Het
Vmn2r75	A	T	7: 86,171,557	Y56*	probably null	Het
Wdfy3	C	T	5: 101,864,117	S2668N	probably benign	Het
Wdr72	G	A	9: 74,152,447	D392N	probably benign	Het
Zfp518a	A	C	19: 40,913,426	K600Q	possibly 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
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
R8713:Rrm1	UTSW	7	102460351	missense	probably damaging	1.00
R8963:Rrm1	UTSW	7	102456532	missense	probably benign	0.23
R9028:Rrm1	UTSW	7	102460398	missense	probably damaging	1.00
R9442:Rrm1	UTSW	7	102459391	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCAACATTCCTATTTCAGGG -3'
(R):5'- TGCTCAAATCGTCTGCCTCG -3'

Sequencing Primer
(F):5'- ACTCAAGCATTTTTCAGGGTGC -3'
(R):5'- CTCGGCGGGCAGGAGAG -3'

Posted On

2021-10-11