Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Rrm1'

319630

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

041015-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102457198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 308 (I308N)

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

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

AlphaFold

P07742

Predicted Effect

probably damaging
Transcript: ENSMUST00000033283
AA Change: I308N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: I308N

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 43,651,091	M506V	probably benign	Het
Ano1	A	T	7: 144,650,505	M290K	probably damaging	Het
Arrdc2	A	T	8: 70,837,177	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,592,486	T77N	probably benign	Het
Cmtr2	C	G	8: 110,221,037		probably null	Het
Cnot2	A	T	10: 116,498,143	V374E	possibly damaging	Het
Crnn	T	C	3: 93,146,813	M1T	probably null	Het
Ctsb	A	G	14: 63,133,452	N38D	probably benign	Het
Dock10	A	C	1: 80,510,417	S2010A	probably benign	Het
Dqx1	A	G	6: 83,059,479	T155A	probably benign	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Eci1	T	C	17: 24,436,277	W119R	probably damaging	Het
Foxo1	C	A	3: 52,345,419	D334E	probably benign	Het
Gck	T	C	11: 5,910,295	T116A	probably benign	Het
Gcn1l1	T	C	5: 115,588,050	V588A	probably benign	Het
Gm7168	A	G	17: 13,949,003	I211V	probably benign	Het
Idh3g	A	T	X: 73,782,004		probably null	Het
Jag1	A	G	2: 137,101,658	F206S	probably damaging	Het
Loxl3	G	A	6: 83,037,584	V158I	probably benign	Het
Ly6g	A	G	15: 75,155,718		probably null	Het
Myo1b	A	G	1: 51,778,526	F532L	probably damaging	Het
Naip1	T	A	13: 100,426,176	N827I	probably damaging	Het
Nlrp9c	G	A	7: 26,384,661	H498Y	possibly damaging	Het
Olfr149	A	G	9: 39,702,091	I226T	probably benign	Het
Pak2	C	G	16: 32,052,187	G59A	probably benign	Het
Pcdha2	T	A	18: 36,941,476	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,401,115	M54K	probably benign	Het
Pde2a	A	G	7: 101,481,383	*71W	probably null	Het
Pkd2l1	T	C	19: 44,192,181	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,523,649	Y1306S	probably benign	Het
Plec	T	C	15: 76,180,215	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 105,381,398	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,366,448	G647C	probably damaging	Het
Ptch1	C	T	13: 63,534,329	R537H	probably damaging	Het
Qser1	A	G	2: 104,776,384	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,198	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,281,448		probably null	Het
Riok1	T	C	13: 38,048,955	F216L	probably damaging	Het
Serpina1f	A	T	12: 103,691,920	M242K	probably benign	Het
Smox	G	A	2: 131,524,850	M576I	possibly damaging	Het
Spaca7	A	T	8: 12,586,435	N87I	probably damaging	Het
Spink5	A	T	18: 43,987,867	Q296L	probably benign	Het
Sspo	T	C	6: 48,498,395		probably null	Het
Sult2b1	T	A	7: 45,735,311	I114F	probably damaging	Het
Tex12	T	C	9: 50,559,287		probably null	Het
Tonsl	A	G	15: 76,624,475	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tsen54	T	C	11: 115,820,852	V365A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp47	T	C	7: 112,087,884	L683P	probably damaging	Het
Wdr18	T	C	10: 79,965,041	L146P	probably damaging	Het
Zfp709	A	G	8: 71,889,906	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,960,864	I828N	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
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
R9442:Rrm1	UTSW	7	102459391	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCTAGGAACTAAGTTCTAGAGTTC -3'
(R):5'- GTCAAGTGTCATCGACTCTCG -3'

Sequencing Primer
(F):5'- CAGCAAGTGGTCTTAACTGC -3'
(R):5'- TCGAGAACTTGCCGTCTG -3'

Posted On

2015-06-10