Mutagenetix > Incidental Mutations

Incidental Mutation 'R4939:Rrm1'

382924

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

042538-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102466924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 683 (V683A)

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: V683A

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: V683A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,243,725	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,450,116	M585V	probably benign	Het
Brca1	A	G	11: 101,508,050	V1572A	probably benign	Het
C1ql4	A	T	15: 99,087,640	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,992,157		probably null	Het
Cdk6	A	T	5: 3,344,377	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Clic4	T	C	4: 135,223,541	E113G	probably benign	Het
Creld1	C	A	6: 113,488,179	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,247,676		probably null	Het
Dnaaf3	A	T	7: 4,527,145	S246R	probably damaging	Het
Dnah12	A	T	14: 26,891,524	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,597	D446V	probably damaging	Het
Dock8	A	T	19: 25,122,400	Y629F	probably damaging	Het
E2f8	A	T	7: 48,872,138	N405K	probably benign	Het
Flg	A	G	3: 93,279,847	N202S	probably benign	Het
Glyatl3	A	G	17: 40,910,023		probably null	Het
Gm10696	A	T	3: 94,176,233	Y90*	probably null	Het
Gm38999	A	G	7: 43,428,461	T63A	possibly damaging	Het
Gm4981	T	C	10: 58,235,603	N263S	probably benign	Het
Grap	A	G	11: 61,660,298	Y52C	probably damaging	Het
Haus2	T	A	2: 120,619,036	I187K	probably damaging	Het
Heatr5b	T	C	17: 78,762,260	E1686G	probably benign	Het
Herc2	A	G	7: 56,206,736	D3944G	probably damaging	Het
Hexdc	A	T	11: 121,207,716	M9L	probably benign	Het
Hoxa3	T	C	6: 52,170,676		probably benign	Het
Hspg2	A	T	4: 137,508,031	I126F	probably damaging	Het
Itpr1	T	A	6: 108,440,558	C123*	probably null	Het
Jmjd1c	T	A	10: 67,246,137	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,729,686	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,815,245	S747R	possibly damaging	Het
Krt26	T	C	11: 99,334,696	M320V	probably benign	Het
Lama1	T	G	17: 67,737,475	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,126,836	D1103G	probably damaging	Het
Lepr	A	T	4: 101,733,438	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,709,979		probably null	Het
Mcoln2	A	T	3: 146,192,241	H39L	probably benign	Het
Myh11	T	A	16: 14,239,507	T315S	probably benign	Het
Ncapd3	T	C	9: 27,063,869		probably null	Het
Nlrp9b	G	T	7: 20,024,496	V553F	probably damaging	Het
Nubpl	A	G	12: 52,181,095	N129S	probably damaging	Het
Nup214	C	A	2: 31,983,159	T255K	probably benign	Het
Olfr1390	A	G	11: 49,340,549	T6A	probably benign	Het
Olfr1469	T	A	19: 13,410,855	N95K	probably benign	Het
Olfr218	T	C	1: 173,203,463	Y36H	possibly damaging	Het
Olfr325	G	T	11: 58,581,211	M122I	probably damaging	Het
Olfr464	G	T	11: 87,914,124	P261T	probably damaging	Het
Olfr619	T	C	7: 103,604,251	V199A	probably benign	Het
Orc3	G	A	4: 34,593,126	Q256*	probably null	Het
Pbrm1	A	G	14: 31,061,623	M566V	probably damaging	Het
Pde6b	A	G	5: 108,421,497	I357V	probably benign	Het
Pkdrej	A	G	15: 85,820,283	I484T	possibly damaging	Het
Plvap	A	G	8: 71,511,439	V93A	probably benign	Het
Plxna4	T	C	6: 32,165,762	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,328,079	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,517,469		probably null	Het
Ranbp17	T	C	11: 33,219,223	N997S	probably benign	Het
Rpap2	G	T	5: 107,603,625		probably null	Het
Ruvbl1	A	G	6: 88,483,039		probably null	Het
Sh3pxd2a	A	G	19: 47,278,404	Y277H	probably damaging	Het
Shank1	C	T	7: 44,326,162	P477S	unknown	Het
Shtn1	T	C	19: 59,022,201	E278G	probably benign	Het
Skap2	T	A	6: 51,922,323	I109F	possibly damaging	Het
Skiv2l2	T	C	13: 112,909,892	D308G	possibly damaging	Het
Slc28a3	A	C	13: 58,558,581	I615M	probably benign	Het
Slc4a11	A	G	2: 130,684,868	L780P	probably damaging	Het
Slc5a4b	T	C	10: 76,081,467	E245G	probably benign	Het
Slfn8	C	T	11: 83,003,285	A843T	probably benign	Het
Sncaip	A	T	18: 52,907,263	Q843L	possibly damaging	Het
Spidr	T	A	16: 16,140,746	K51*	probably null	Het
Tas2r123	T	C	6: 132,847,845	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,130,469	D757G	probably benign	Het
Tmem132d	A	T	5: 127,796,075	V490D	probably damaging	Het
Top2a	T	A	11: 99,010,092	H557L	probably damaging	Het
Trafd1	A	G	5: 121,375,191	I328T	probably benign	Het
Trappc11	G	A	8: 47,519,665	A291V	probably damaging	Het
Tuba1c	A	G	15: 99,037,954	Y432C	probably damaging	Het
Utp11	T	G	4: 124,683,250	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,842,891	T239P	probably damaging	Het
Vwce	A	T	19: 10,645,050	N239Y	probably damaging	Het
Yes1	T	C	5: 32,645,113		probably null	Het
Zfand6	A	C	7: 84,615,822	*224G	probably null	Het
Zfp408	A	T	2: 91,645,105	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044		probably null	Het
Zfp946	T	C	17: 22,455,437	F391L	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
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
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'- TAGTTTGGGCTAACTTGCTATAAGC -3'
(R):5'- TTCGAGCTGGCAATTAAGTCCTC -3'

Sequencing Primer
(F):5'- CTAACTCATAGCGGTATCAGGTCTG -3'
(R):5'- GGCAATTAAGTCCTCCTCAGAGTG -3'

Posted On

2016-04-27