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 |
Incidental Mutation