Incidental Mutation 'R4416:Rrm1'
ID |
500613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrm1
|
Ensembl Gene |
ENSMUSG00000030978 |
Gene Name |
ribonucleotide reductase M1 |
Synonyms |
RnrM1 |
MMRRC Submission |
041137-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R4416 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102097008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 96
(D96G)
|
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: D96G
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000033283 Gene: ENSMUSG00000030978 AA Change: D96G
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
Tmem63c |
C |
G |
12: 87,128,676 (GRCm39) |
T567R |
probably benign |
Het |
Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
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 |
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 |
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 |
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'- TTGCTGATAAGCTATAAGACCTAACAT -3'
(R):5'- TGTCTTCAAGATTATGACCAGGGT -3'
Sequencing Primer
(F):5'- GAGTATTTGCTCTGCTAGG -3'
(R):5'- TTCAGAGGACCAGGGTTCAATTCC -3'
|
Posted On |
2017-12-01 |