Incidental Mutation 'R5433:Rrm1'
ID |
428154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrm1
|
Ensembl Gene |
ENSMUSG00000030978 |
Gene Name |
ribonucleotide reductase M1 |
Synonyms |
RnrM1 |
MMRRC Submission |
042998-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R5433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102114974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 37
(N37I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147865
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
[ENSMUST00000209630]
|
AlphaFold |
P07742 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033283
AA Change: N652I
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000033283 Gene: ENSMUSG00000030978 AA Change: N652I
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 damaging
Transcript: ENSMUST00000209630
AA Change: N37I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210543
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
100% (58/58) |
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 |
1700019D03Rik |
T |
C |
1: 52,964,657 (GRCm39) |
S24G |
probably damaging |
Het |
1810064F22Rik |
A |
G |
9: 22,119,039 (GRCm39) |
|
noncoding transcript |
Het |
Aacs |
A |
T |
5: 125,592,078 (GRCm39) |
M589L |
probably benign |
Het |
Adamts8 |
A |
C |
9: 30,873,012 (GRCm39) |
H739P |
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,860,216 (GRCm39) |
|
probably benign |
Het |
BC030500 |
A |
G |
8: 59,366,043 (GRCm39) |
|
probably benign |
Het |
Btnl9 |
T |
A |
11: 49,066,830 (GRCm39) |
|
probably benign |
Het |
Cd74 |
G |
T |
18: 60,940,993 (GRCm39) |
A31S |
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,893,808 (GRCm39) |
A440T |
possibly damaging |
Het |
Ces1d |
G |
A |
8: 93,912,664 (GRCm39) |
T258I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,266,735 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
T |
19: 4,203,449 (GRCm39) |
A430V |
probably benign |
Het |
Cyp2c65 |
A |
T |
19: 39,081,928 (GRCm39) |
I485L |
probably benign |
Het |
Dio1 |
A |
T |
4: 107,163,977 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,000,966 (GRCm39) |
|
probably null |
Het |
Dynlt5 |
A |
G |
4: 102,859,700 (GRCm39) |
E84G |
possibly damaging |
Het |
Elp6 |
A |
G |
9: 110,144,851 (GRCm39) |
Y136C |
probably damaging |
Het |
Gon4l |
A |
T |
3: 88,803,532 (GRCm39) |
Q1382L |
possibly damaging |
Het |
Guca1a |
T |
C |
17: 47,711,295 (GRCm39) |
E17G |
probably damaging |
Het |
Gucy2d |
G |
A |
7: 98,098,982 (GRCm39) |
G267E |
probably damaging |
Het |
Gvin3 |
T |
A |
7: 106,199,314 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
A |
4: 137,256,105 (GRCm39) |
|
probably null |
Het |
Il1a |
G |
T |
2: 129,149,821 (GRCm39) |
D26E |
possibly damaging |
Het |
Il22b |
T |
A |
10: 118,130,789 (GRCm39) |
I36F |
probably damaging |
Het |
Kcna1 |
A |
T |
6: 126,620,075 (GRCm39) |
F82I |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lamtor5 |
T |
G |
3: 107,189,323 (GRCm39) |
C120G |
probably benign |
Het |
Lars1 |
A |
G |
18: 42,384,363 (GRCm39) |
C72R |
possibly damaging |
Het |
Lrrfip1 |
T |
G |
1: 91,014,848 (GRCm39) |
|
probably null |
Het |
Mapkapk3 |
T |
C |
9: 107,133,491 (GRCm39) |
D349G |
probably damaging |
Het |
Mknk2 |
A |
T |
10: 80,503,059 (GRCm39) |
I421N |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,191,381 (GRCm39) |
I820T |
probably benign |
Het |
Notch2 |
T |
G |
3: 98,033,450 (GRCm39) |
V1182G |
probably damaging |
Het |
Or1af1 |
T |
G |
2: 37,109,684 (GRCm39) |
F61C |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2z2 |
C |
T |
11: 58,346,680 (GRCm39) |
V32M |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,245,632 (GRCm39) |
S641T |
probably damaging |
Het |
Prok1 |
T |
A |
3: 107,146,949 (GRCm39) |
H6L |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,000,468 (GRCm39) |
V1172E |
probably damaging |
Het |
Rasal3 |
C |
T |
17: 32,612,575 (GRCm39) |
R762Q |
probably benign |
Het |
Rgs20 |
G |
T |
1: 5,140,333 (GRCm39) |
A23E |
possibly damaging |
Het |
Rprd1a |
T |
C |
18: 24,640,288 (GRCm39) |
T163A |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,481,350 (GRCm39) |
E520V |
probably damaging |
Het |
Slc14a2 |
G |
T |
18: 78,252,143 (GRCm39) |
P56Q |
probably damaging |
Het |
Slc22a3 |
C |
T |
17: 12,677,377 (GRCm39) |
G264S |
probably damaging |
Het |
Svil |
A |
G |
18: 5,059,294 (GRCm39) |
E770G |
probably damaging |
Het |
Svop |
A |
G |
5: 114,198,186 (GRCm39) |
V129A |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,232,663 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,951,105 (GRCm39) |
|
probably benign |
Het |
Tmem30a |
T |
A |
9: 79,687,930 (GRCm39) |
I80F |
probably damaging |
Het |
Vmn2r16 |
G |
T |
5: 109,511,708 (GRCm39) |
L638F |
probably damaging |
Het |
Xkr7 |
T |
A |
2: 152,896,244 (GRCm39) |
I366N |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,990,998 (GRCm39) |
|
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 |
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 |
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'- GTGAAATGTCCTCCTCAGTTGTG -3'
(R):5'- GTGCAATTCTAGCACAACAATGC -3'
Sequencing Primer
(F):5'- CTCCTCAGTTGTGTAAAAATAGTGGG -3'
(R):5'- TGCAGAGAGACATTAATAGAACCTGC -3'
|
Posted On |
2016-09-01 |