Incidental Mutation 'R3796:Rrm1'
ID |
272763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrm1
|
Ensembl Gene |
ENSMUSG00000030978 |
Gene Name |
ribonucleotide reductase M1 |
Synonyms |
RnrM1 |
MMRRC Submission |
040757-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R3796 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 102114910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
[ENSMUST00000209630]
|
AlphaFold |
P07742 |
Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000209630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210543
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (40/40) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,489,662 (GRCm39) |
|
probably null |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,076 (GRCm39) |
|
probably null |
Het |
Armh3 |
A |
G |
19: 45,910,049 (GRCm39) |
|
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clk2 |
A |
G |
3: 89,082,996 (GRCm39) |
N424S |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
Dnajc16 |
G |
T |
4: 141,495,048 (GRCm39) |
D521E |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,416,783 (GRCm39) |
V772A |
probably benign |
Het |
Dst |
G |
T |
1: 34,220,996 (GRCm39) |
V2267F |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,462,169 (GRCm39) |
Y5170H |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,906 (GRCm39) |
L496I |
probably benign |
Het |
Krt8 |
T |
C |
15: 101,907,877 (GRCm39) |
I233V |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,304,386 (GRCm39) |
V3A |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Plbd2 |
A |
T |
5: 120,630,933 (GRCm39) |
I224N |
probably damaging |
Het |
Rab19 |
T |
C |
6: 39,360,975 (GRCm39) |
V41A |
probably benign |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Shprh |
C |
T |
10: 11,054,501 (GRCm39) |
L1037F |
possibly damaging |
Het |
Slc24a3 |
A |
G |
2: 145,458,601 (GRCm39) |
D527G |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,823 (GRCm39) |
|
probably benign |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slc5a1 |
A |
G |
5: 33,309,996 (GRCm39) |
D408G |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,580,916 (GRCm39) |
I477N |
probably damaging |
Het |
Srgap1 |
A |
G |
10: 121,883,037 (GRCm39) |
V21A |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
probably damaging |
Het |
|
Other mutations in Rrm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Rrm1
|
APN |
7 |
102,103,714 (GRCm39) |
nonsense |
probably null |
|
IGL01431:Rrm1
|
APN |
7 |
102,106,759 (GRCm39) |
splice site |
probably benign |
|
IGL03251:Rrm1
|
APN |
7 |
102,106,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03401:Rrm1
|
APN |
7 |
102,114,951 (GRCm39) |
missense |
possibly damaging |
0.81 |
Arabica
|
UTSW |
7 |
102,109,558 (GRCm39) |
missense |
probably damaging |
1.00 |
Pentose
|
UTSW |
7 |
102,110,063 (GRCm39) |
splice site |
probably null |
|
R0454:Rrm1
|
UTSW |
7 |
102,116,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0548:Rrm1
|
UTSW |
7 |
102,116,274 (GRCm39) |
critical splice donor site |
probably null |
|
R0759:Rrm1
|
UTSW |
7 |
102,106,768 (GRCm39) |
missense |
probably benign |
0.32 |
R1575:Rrm1
|
UTSW |
7 |
102,105,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R1586:Rrm1
|
UTSW |
7 |
102,116,112 (GRCm39) |
makesense |
probably null |
|
R1625:Rrm1
|
UTSW |
7 |
102,117,554 (GRCm39) |
missense |
probably damaging |
0.98 |
R2207:Rrm1
|
UTSW |
7 |
102,091,233 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R2432:Rrm1
|
UTSW |
7 |
102,092,279 (GRCm39) |
missense |
probably benign |
0.03 |
R2513:Rrm1
|
UTSW |
7 |
102,109,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R3914:Rrm1
|
UTSW |
7 |
102,106,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R4179:Rrm1
|
UTSW |
7 |
102,106,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R4302:Rrm1
|
UTSW |
7 |
102,097,031 (GRCm39) |
missense |
probably benign |
0.00 |
R4379:Rrm1
|
UTSW |
7 |
102,095,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R4416:Rrm1
|
UTSW |
7 |
102,097,008 (GRCm39) |
missense |
probably benign |
0.06 |
R4690:Rrm1
|
UTSW |
7 |
102,097,086 (GRCm39) |
missense |
probably benign |
|
R4939:Rrm1
|
UTSW |
7 |
102,116,131 (GRCm39) |
missense |
probably benign |
0.34 |
R5433:Rrm1
|
UTSW |
7 |
102,114,974 (GRCm39) |
missense |
probably damaging |
0.97 |
R5445:Rrm1
|
UTSW |
7 |
102,100,230 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6120:Rrm1
|
UTSW |
7 |
102,110,063 (GRCm39) |
splice site |
probably null |
|
R6198:Rrm1
|
UTSW |
7 |
102,095,936 (GRCm39) |
critical splice donor site |
probably null |
|
R6369:Rrm1
|
UTSW |
7 |
102,095,909 (GRCm39) |
missense |
probably damaging |
0.97 |
R6699:Rrm1
|
UTSW |
7 |
102,110,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Rrm1
|
UTSW |
7 |
102,109,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Rrm1
|
UTSW |
7 |
102,103,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Rrm1
|
UTSW |
7 |
102,106,472 (GRCm39) |
missense |
probably benign |
0.00 |
R8276:Rrm1
|
UTSW |
7 |
102,110,059 (GRCm39) |
critical splice donor site |
probably null |
|
R8713:Rrm1
|
UTSW |
7 |
102,109,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Rrm1
|
UTSW |
7 |
102,105,739 (GRCm39) |
missense |
probably benign |
0.23 |
R8968:Rrm1
|
UTSW |
7 |
102,117,545 (GRCm39) |
missense |
probably benign |
0.03 |
R9028:Rrm1
|
UTSW |
7 |
102,109,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9442:Rrm1
|
UTSW |
7 |
102,108,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCATCTCCCACACTGAAGG -3'
(R):5'- CATGGCACCACAATGCTCAG -3'
Sequencing Primer
(F):5'- GTCTGGATATGCACATACATACAGTC -3'
(R):5'- TGCTCAGCTCAGCTCCTAGAAG -3'
|
Posted On |
2015-03-25 |