Incidental Mutation 'R2432:Rrm1'
| ID |
250447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrm1
|
| Ensembl Gene |
ENSMUSG00000030978 |
| Gene Name |
ribonucleotide reductase M1 |
| Synonyms |
RnrM1 |
| MMRRC Submission |
040393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R2432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102092279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 35
(D35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
[ENSMUST00000211720]
|
| AlphaFold |
P07742 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033283
AA Change: D35E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: D35E
| 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: ENSMUST00000210751
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211720
|
| Meta Mutation Damage Score |
0.0859 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
| Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
| Def6 |
A |
T |
17: 28,447,043 (GRCm39) |
D558V |
probably benign |
Het |
| Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,941,442 (GRCm39) |
D415E |
probably benign |
Het |
| Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
| Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
| Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,200,791 (GRCm39) |
Q279R |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
| Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
| Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
| Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
| Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
| Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
T |
6: 6,114,017 (GRCm39) |
M285K |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
| Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
| Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,263,246 (GRCm39) |
|
probably null |
Het |
| Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
| Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
probably benign |
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 |
|
R2513:Rrm1
|
UTSW |
7 |
102,109,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3796:Rrm1
|
UTSW |
7 |
102,114,910 (GRCm39) |
splice site |
probably null |
|
|
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'- TTAACCACTGAGCAGTCTCTG -3'
(R):5'- TCATGTTCTGAGTTCTCCAGG -3'
Sequencing Primer
(F):5'- GTCTCTGCAGACCCCAAAG -3'
(R):5'- TCTGAGTTCTCCAGGAAATGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation