Incidental Mutation 'IGL01431:Rrm1'
ID |
84136 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rrm1
|
Ensembl Gene |
ENSMUSG00000030978 |
Gene Name |
ribonucleotide reductase M1 |
Synonyms |
RnrM1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL01431
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
102441695-102469771 bp(+) (GRCm38) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 102457552 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
|
AlphaFold |
P07742 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000209955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211786
|
Coding Region Coverage |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930430A15Rik |
A |
T |
2: 111,225,395 (GRCm38) |
|
probably benign |
Het |
Adamts7 |
A |
G |
9: 90,207,785 (GRCm38) |
I897T |
possibly damaging |
Het |
Aqp2 |
G |
A |
15: 99,579,420 (GRCm38) |
V90M |
possibly damaging |
Het |
Atf6 |
T |
C |
1: 170,853,002 (GRCm38) |
|
probably benign |
Het |
Cdh3 |
T |
C |
8: 106,547,669 (GRCm38) |
Y607H |
probably damaging |
Het |
Cer1 |
T |
A |
4: 82,882,831 (GRCm38) |
E198D |
probably benign |
Het |
Dscam |
A |
G |
16: 96,652,078 (GRCm38) |
|
probably null |
Het |
Ecel1 |
C |
T |
1: 87,151,504 (GRCm38) |
R484H |
probably damaging |
Het |
Entpd7 |
C |
A |
19: 43,729,839 (GRCm38) |
H575Q |
probably benign |
Het |
F11r |
T |
C |
1: 171,462,909 (GRCm38) |
V279A |
probably damaging |
Het |
Gm17093 |
T |
A |
14: 44,521,665 (GRCm38) |
|
probably benign |
Het |
Got1 |
T |
A |
19: 43,503,049 (GRCm38) |
K321* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,507,538 (GRCm38) |
V302A |
probably benign |
Het |
Hivep1 |
G |
T |
13: 42,158,017 (GRCm38) |
K1244N |
probably damaging |
Het |
Idh3b |
T |
C |
2: 130,281,897 (GRCm38) |
T116A |
possibly damaging |
Het |
Itgb4 |
C |
A |
11: 116,006,457 (GRCm38) |
|
probably benign |
Het |
Mybl1 |
G |
T |
1: 9,672,647 (GRCm38) |
L579I |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,614,358 (GRCm38) |
T1694S |
probably null |
Het |
Mylk3 |
T |
C |
8: 85,336,401 (GRCm38) |
D537G |
probably damaging |
Het |
Myo1d |
A |
C |
11: 80,674,839 (GRCm38) |
F387V |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,314,587 (GRCm38) |
Y448C |
probably benign |
Het |
Olfr1090 |
A |
T |
2: 86,754,164 (GRCm38) |
H191Q |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 91,035,916 (GRCm38) |
|
probably benign |
Het |
Retreg2 |
T |
A |
1: 75,145,105 (GRCm38) |
|
probably null |
Het |
Ripply3 |
G |
A |
16: 94,328,543 (GRCm38) |
C16Y |
possibly damaging |
Het |
Robo3 |
G |
A |
9: 37,419,111 (GRCm38) |
|
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,448,667 (GRCm38) |
R269S |
probably benign |
Het |
Sbp |
A |
T |
17: 23,945,348 (GRCm38) |
|
probably benign |
Het |
Schip1 |
A |
T |
3: 68,617,777 (GRCm38) |
Q162L |
probably damaging |
Het |
Senp1 |
T |
C |
15: 98,082,263 (GRCm38) |
Y67C |
probably damaging |
Het |
Slc25a25 |
C |
T |
2: 32,419,091 (GRCm38) |
R233K |
probably damaging |
Het |
Smoc1 |
C |
A |
12: 81,152,751 (GRCm38) |
S220* |
probably null |
Het |
Stab1 |
C |
A |
14: 31,148,995 (GRCm38) |
R1299I |
probably benign |
Het |
Stk17b |
A |
G |
1: 53,765,915 (GRCm38) |
|
probably benign |
Het |
Tmc7 |
T |
G |
7: 118,552,762 (GRCm38) |
D312A |
probably damaging |
Het |
Vmn1r79 |
T |
C |
7: 12,176,400 (GRCm38) |
S70P |
possibly damaging |
Het |
Zfc3h1 |
C |
A |
10: 115,423,223 (GRCm38) |
T1591K |
possibly damaging |
Het |
|
Other mutations in Rrm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Rrm1
|
APN |
7 |
102,454,507 (GRCm38) |
nonsense |
probably null |
|
IGL03251:Rrm1
|
APN |
7 |
102,457,206 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03401:Rrm1
|
APN |
7 |
102,465,744 (GRCm38) |
missense |
possibly damaging |
0.81 |
Arabica
|
UTSW |
7 |
102,460,351 (GRCm38) |
missense |
probably damaging |
1.00 |
Pentose
|
UTSW |
7 |
102,460,856 (GRCm38) |
splice site |
probably null |
|
R0454:Rrm1
|
UTSW |
7 |
102,466,926 (GRCm38) |
missense |
probably damaging |
1.00 |
R0548:Rrm1
|
UTSW |
7 |
102,467,067 (GRCm38) |
critical splice donor site |
probably null |
|
R0759:Rrm1
|
UTSW |
7 |
102,457,561 (GRCm38) |
missense |
probably benign |
0.32 |
R1575:Rrm1
|
UTSW |
7 |
102,456,514 (GRCm38) |
missense |
probably damaging |
1.00 |
R1586:Rrm1
|
UTSW |
7 |
102,466,905 (GRCm38) |
makesense |
probably null |
|
R1625:Rrm1
|
UTSW |
7 |
102,468,347 (GRCm38) |
missense |
probably damaging |
0.98 |
R2207:Rrm1
|
UTSW |
7 |
102,442,026 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
R2432:Rrm1
|
UTSW |
7 |
102,443,072 (GRCm38) |
missense |
probably benign |
0.03 |
R2513:Rrm1
|
UTSW |
7 |
102,460,689 (GRCm38) |
missense |
probably damaging |
0.99 |
R3796:Rrm1
|
UTSW |
7 |
102,465,703 (GRCm38) |
splice site |
probably null |
|
R3914:Rrm1
|
UTSW |
7 |
102,457,174 (GRCm38) |
missense |
probably damaging |
1.00 |
R4179:Rrm1
|
UTSW |
7 |
102,457,198 (GRCm38) |
missense |
probably damaging |
1.00 |
R4302:Rrm1
|
UTSW |
7 |
102,447,824 (GRCm38) |
missense |
probably benign |
0.00 |
R4379:Rrm1
|
UTSW |
7 |
102,446,593 (GRCm38) |
missense |
probably damaging |
1.00 |
R4416:Rrm1
|
UTSW |
7 |
102,447,801 (GRCm38) |
missense |
probably benign |
0.06 |
R4690:Rrm1
|
UTSW |
7 |
102,447,879 (GRCm38) |
missense |
probably benign |
|
R4939:Rrm1
|
UTSW |
7 |
102,466,924 (GRCm38) |
missense |
probably benign |
0.34 |
R5433:Rrm1
|
UTSW |
7 |
102,465,767 (GRCm38) |
missense |
probably damaging |
0.97 |
R5445:Rrm1
|
UTSW |
7 |
102,451,023 (GRCm38) |
missense |
possibly damaging |
0.77 |
R6120:Rrm1
|
UTSW |
7 |
102,460,856 (GRCm38) |
splice site |
probably null |
|
R6198:Rrm1
|
UTSW |
7 |
102,446,729 (GRCm38) |
critical splice donor site |
probably null |
|
R6369:Rrm1
|
UTSW |
7 |
102,446,702 (GRCm38) |
missense |
probably damaging |
0.97 |
R6699:Rrm1
|
UTSW |
7 |
102,460,825 (GRCm38) |
missense |
probably damaging |
1.00 |
R7009:Rrm1
|
UTSW |
7 |
102,460,334 (GRCm38) |
missense |
probably damaging |
1.00 |
R7491:Rrm1
|
UTSW |
7 |
102,454,557 (GRCm38) |
missense |
probably damaging |
1.00 |
R8024:Rrm1
|
UTSW |
7 |
102,457,265 (GRCm38) |
missense |
probably benign |
0.00 |
R8276:Rrm1
|
UTSW |
7 |
102,460,852 (GRCm38) |
critical splice donor site |
probably null |
|
R8713:Rrm1
|
UTSW |
7 |
102,460,351 (GRCm38) |
missense |
probably damaging |
1.00 |
R8963:Rrm1
|
UTSW |
7 |
102,456,532 (GRCm38) |
missense |
probably benign |
0.23 |
R8968:Rrm1
|
UTSW |
7 |
102,468,338 (GRCm38) |
missense |
probably benign |
0.03 |
R9028:Rrm1
|
UTSW |
7 |
102,460,398 (GRCm38) |
missense |
probably damaging |
1.00 |
R9442:Rrm1
|
UTSW |
7 |
102,459,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |