Incidental Mutation 'R8276:Rrm1'
| ID |
637981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrm1
|
| Ensembl Gene |
ENSMUSG00000030978 |
| Gene Name |
ribonucleotide reductase M1 |
| Synonyms |
RnrM1 |
| MMRRC Submission |
067699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 102110059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
[ENSMUST00000033283]
[ENSMUST00000209630]
|
| AlphaFold |
P07742 |
| Predicted Effect |
probably null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000209630
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,385,885 (GRCm39) |
R27W |
probably damaging |
Het |
| Acbd5 |
A |
G |
2: 22,959,563 (GRCm39) |
D39G |
probably benign |
Het |
| Amdhd2 |
C |
G |
17: 24,382,574 (GRCm39) |
R22P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,461,556 (GRCm39) |
I664M |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,179,614 (GRCm39) |
M716T |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,505,998 (GRCm39) |
T1743S |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,399,092 (GRCm39) |
S947P |
probably benign |
Het |
| Ep300 |
C |
G |
15: 81,534,229 (GRCm39) |
N2095K |
possibly damaging |
Het |
| Evi2a |
T |
A |
11: 79,418,316 (GRCm39) |
N98I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Far2 |
G |
T |
6: 148,075,399 (GRCm39) |
V420L |
probably benign |
Het |
| Gng5 |
A |
G |
3: 146,206,258 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,098,968 (GRCm39) |
R1311* |
probably null |
Het |
| Hhipl2 |
A |
T |
1: 183,217,328 (GRCm39) |
K478M |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,146 (GRCm39) |
Y166N |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,318 (GRCm39) |
S693R |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,572 (GRCm39) |
L52P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,880 (GRCm39) |
I254T |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,943,273 (GRCm39) |
K1644R |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,861,234 (GRCm39) |
Y175* |
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,320,494 (GRCm39) |
T881M |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,948,287 (GRCm39) |
S167T |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,202,522 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,506,484 (GRCm39) |
G1026D |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,771,895 (GRCm39) |
V240A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,470,962 (GRCm39) |
D4637G |
probably damaging |
Het |
| Selenos |
G |
A |
7: 65,729,552 (GRCm39) |
|
probably benign |
Het |
| Serpina1e |
G |
T |
12: 103,913,428 (GRCm39) |
T364K |
probably damaging |
Het |
| Shroom3 |
A |
T |
5: 93,088,339 (GRCm39) |
Q363L |
probably damaging |
Het |
| Slc9b1 |
A |
C |
3: 135,077,658 (GRCm39) |
E139D |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,993,544 (GRCm39) |
|
probably benign |
Het |
| Tmcc3 |
A |
T |
10: 94,418,170 (GRCm39) |
T344S |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,918 (GRCm39) |
S807T |
probably benign |
Het |
| Trav7-6 |
A |
T |
14: 53,954,695 (GRCm39) |
H95L |
probably benign |
Het |
| Trmu |
T |
A |
15: 85,766,932 (GRCm39) |
V47D |
possibly damaging |
Het |
| Uba6 |
C |
A |
5: 86,290,509 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,968,122 (GRCm39) |
D116G |
possibly damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,525,649 (GRCm39) |
|
probably null |
Het |
| Zfp541 |
A |
T |
7: 15,813,009 (GRCm39) |
H554L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,193 (GRCm39) |
H658R |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,948,051 (GRCm39) |
Y107N |
probably damaging |
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 |
|
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 |
|
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'- CCATTGGAATTGGGGTACAAGG -3'
(R):5'- TCTTGCAGAACAGGGATTGCTG -3'
Sequencing Primer
(F):5'- TGGGGTACAAGGTTTAGCAGATGC -3'
(R):5'- GGATTTAGGGCGCACTTGAATAAATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation