Incidental Mutation 'R6699:Rrm1'
| ID |
528686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrm1
|
| Ensembl Gene |
ENSMUSG00000030978 |
| Gene Name |
ribonucleotide reductase M1 |
| Synonyms |
RnrM1 |
| MMRRC Submission |
044817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102090902-102118978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102110032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 556
(Y556N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033283]
[ENSMUST00000209630]
|
| AlphaFold |
P07742 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033283
AA Change: Y556N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: Y556N
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211786
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
G |
8: 41,279,694 (GRCm39) |
K695R |
probably benign |
Het |
| Agfg1 |
G |
A |
1: 82,836,175 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
G |
A |
1: 54,801,604 (GRCm39) |
T241I |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,654,438 (GRCm39) |
D166G |
probably null |
Het |
| Cpne2 |
G |
A |
8: 95,290,587 (GRCm39) |
V391M |
probably damaging |
Het |
| Ddx27 |
C |
T |
2: 166,862,423 (GRCm39) |
T155I |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,341 (GRCm39) |
D417G |
probably damaging |
Het |
| Fam217b |
T |
G |
2: 178,062,210 (GRCm39) |
M58R |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,793 (GRCm39) |
T894A |
probably damaging |
Het |
| Ftmt |
T |
C |
18: 52,464,737 (GRCm39) |
S18P |
possibly damaging |
Het |
| Gm16494 |
C |
T |
17: 47,327,834 (GRCm39) |
V17M |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,888,196 (GRCm39) |
I342F |
possibly damaging |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| H4c12 |
A |
T |
13: 21,934,674 (GRCm39) |
M1K |
probably null |
Het |
| Hmgcr |
T |
C |
13: 96,796,717 (GRCm39) |
E191G |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,119 (GRCm39) |
D90G |
possibly damaging |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,632 (GRCm39) |
E488G |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,603 (GRCm39) |
N6S |
unknown |
Het |
| Mgat2 |
A |
G |
12: 69,231,555 (GRCm39) |
D43G |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Or10ag58 |
A |
T |
2: 87,265,160 (GRCm39) |
I110F |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,458,031 (GRCm39) |
I47L |
possibly damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,990 (GRCm39) |
V440E |
probably damaging |
Het |
| Pcdhb18 |
T |
A |
18: 37,625,005 (GRCm39) |
H778Q |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,734,410 (GRCm39) |
E1025G |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,258,121 (GRCm39) |
W96R |
probably damaging |
Het |
| Rph3al |
A |
T |
11: 75,791,663 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
A |
T |
7: 46,342,241 (GRCm39) |
C401S |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,193 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem54 |
A |
G |
4: 129,005,118 (GRCm39) |
I199M |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,963,165 (GRCm39) |
M395V |
probably benign |
Het |
| Topors |
A |
G |
4: 40,262,300 (GRCm39) |
V328A |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,949,580 (GRCm39) |
S667A |
probably benign |
Het |
| Vmn2r68 |
G |
A |
7: 84,881,583 (GRCm39) |
A499V |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,355 (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 |
|
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 |
|
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'- ATCGGCCCATTGGAATTGG -3'
(R):5'- CAGAACAGGGATTGCTGGATTTAG -3'
Sequencing Primer
(F):5'- CCCATTGGAATTGGGGTACAAG -3'
(R):5'- GGCGCACTTGAATAAATCTAGGCC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation