Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Rrm1'

580760

Institutional Source

Beutler Lab

Gene Symbol

Rrm1

Ensembl Gene

ENSMUSG00000030978

Gene Name

ribonucleotide reductase M1

Synonyms

RnrM1

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102441695-102469771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102454557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 238 (C238R)

Ref Sequence

ENSEMBL: ENSMUSP00000033283 (fasta)

Gene Model

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

AlphaFold

P07742

Predicted Effect

probably damaging
Transcript: ENSMUST00000033283
AA Change: C238R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: C238R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,614,755		probably null	Het
5730522E02Rik	A	T	11: 25,769,014	V44E	unknown	Het
Adcy9	A	G	16: 4,418,809	L246S	possibly damaging	Het
Adk	C	T	14: 21,234,929	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,835,967	D41V	probably benign	Het
Ankib1	T	G	5: 3,701,911	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,328,377	V542D	probably benign	Het
Arhgef28	T	C	13: 97,944,686	N1221S	probably benign	Het
Arntl	T	C	7: 113,299,424	V353A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
Cacna1a	C	A	8: 84,559,293	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,613,343	M1559V		Het
Cdh10	G	C	15: 19,013,359	E682Q	probably damaging	Het
Celsr1	T	C	15: 86,032,518	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,470,748	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,813,579	S279P	probably damaging	Het
Col2a1	C	T	15: 97,976,159	V1449I	not run	Het
Cpt2	A	G	4: 107,907,142	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,393,567	T502A	probably benign	Het
Creb3l2	G	T	6: 37,379,859	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,142,666	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,072,379	V246F	probably damaging	Het
Dse	A	G	10: 34,152,565	V843A	probably benign	Het
Ern2	C	A	7: 122,170,533	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,600,432	D906N	probably damaging	Het
Fry	A	G	5: 150,466,326	E140G		Het
Galnt7	A	G	8: 57,552,518	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,413,901	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm826	A	T	2: 160,312,022	S34T	unknown	Het
Gzmk	A	T	13: 113,172,001	I222N	probably benign	Het
Hivep3	A	T	4: 120,098,830	T1448S	probably benign	Het
Hk1	T	C	10: 62,295,745	D278G	probably damaging	Het
Ipo7	C	A	7: 110,039,194	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,769,111	I571N	probably damaging	Het
Itgb6	T	C	2: 60,620,376	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,284,564	H4459L	probably damaging	Het
Limch1	T	G	5: 67,054,237	S894R	probably damaging	Het
Lrit2	A	T	14: 37,068,910	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,939,378	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,399,417	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,410,266	V134A	possibly damaging	Het
Nae1	A	T	8: 104,518,239	D353E	probably benign	Het
Naip5	A	C	13: 100,217,071	F1227V	probably benign	Het
Nln	A	T	13: 104,069,323	F108I	probably damaging	Het
Nop16	C	T	13: 54,588,604	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,374,903	T150S	probably benign	Het
Olfr960	T	G	9: 39,623,972	I281S	possibly damaging	Het
Pcdha4	T	C	18: 36,954,636	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,727,430	I513T	probably benign	Het
Prc1	A	T	7: 80,309,491		probably null	Het
Prpf4	T	A	4: 62,417,876	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,133,155	E43G	probably benign	Het
Pum1	T	A	4: 130,719,174	D181E	probably benign	Het
Rab7	A	G	6: 88,013,642	S17P	probably damaging	Het
Rgs1	T	C	1: 144,245,396	Y179C	probably damaging	Het
Rusc2	T	A	4: 43,426,528	L1484Q	probably damaging	Het
Sall3	C	T	18: 80,972,705	M669I	probably benign	Het
Saxo1	A	C	4: 86,445,407	F280V	probably benign	Het
Scn2a	T	C	2: 65,702,008	S655P	probably damaging	Het
Senp6	G	T	9: 80,123,728	E571*	probably null	Het
Sin3b	C	G	8: 72,746,441	T463S	probably damaging	Het
Sirt7	C	A	11: 120,619,011	R349L	probably benign	Het
Skor1	T	C	9: 63,146,448	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,052,822	R310*	probably null	Het
Slco6c1	A	T	1: 97,127,854	H107Q	probably benign	Het
Slit2	A	G	5: 48,219,994	E455G	probably benign	Het
Smo	G	C	6: 29,736,120	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,769,184	K101R	probably benign	Het
Stat1	C	A	1: 52,152,371	N628K	probably benign	Het
Syn2	A	T	6: 115,254,654	Y302F	probably benign	Het
Tapt1	T	G	5: 44,188,636	Q324P	probably damaging	Het
Tcrg-V3	T	A	13: 19,242,846	M1K	probably null	Het
Tgoln1	C	T	6: 72,616,420	A26T	unknown	Het
Timm13	T	A	10: 80,900,544	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,005,205	P77S	possibly damaging	Het
Trem3	T	G	17: 48,257,941	F157V	probably benign	Het
Trim33	T	A	3: 103,326,148	S420T	probably benign	Het
Trip11	T	C	12: 101,885,435	K790R	probably damaging	Het
Trnt1	A	G	6: 106,778,904	T307A	probably benign	Het
Tshz1	T	C	18: 84,015,641	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,228,565	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,481,343	Y488H	probably benign	Het
Vwa8	A	T	14: 79,082,814	K1088N	probably benign	Het
Wdr35	T	C	12: 8,986,000	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569	S3T	probably benign	Het
Zscan22	G	A	7: 12,906,906	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,517,885	R283*	probably null	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
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'- TCTTCTGCAAACACTTAGGAGCT -3'
(R):5'- TCCTACTCACACCAACAGGT -3'

Sequencing Primer
(F):5'- GCAAACACTTAGGAGCTTTGTAGAC -3'
(R):5'- GTGTTAATTAGCAGAAGCCCAAGCC -3'

Posted On

2019-10-17