Incidental Mutation 'R0712:Rnmt'
| ID |
62798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnmt
|
| Ensembl Gene |
ENSMUSG00000009535 |
| Gene Name |
RNA (guanine-7-) methyltransferase |
| Synonyms |
2610002P10Rik |
| MMRRC Submission |
038895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0712 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
68433426-68457923 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 68440859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009679]
[ENSMUST00000025427]
[ENSMUST00000025427]
[ENSMUST00000129849]
[ENSMUST00000131075]
[ENSMUST00000131075]
[ENSMUST00000139111]
[ENSMUST00000139111]
|
| AlphaFold |
Q9D0L8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009679
|
| SMART Domains |
Protein: ENSMUSP00000009679
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
464 |
7.5e-128 |
PFAM |
|
Pfam:Methyltransf_31
|
184 |
352 |
1.2e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
305 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025427
|
| SMART Domains |
Protein: ENSMUSP00000025427
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
317 |
2.8e-79 |
PFAM |
|
Pfam:Methyltransf_23
|
163 |
349 |
8.2e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
184 |
375 |
4.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
186 |
308 |
1.4e-7 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
305 |
5.1e-9 |
PFAM |
|
Pfam:Pox_MCEL
|
313 |
409 |
2.1e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025427
|
| SMART Domains |
Protein: ENSMUSP00000025427
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
317 |
2.8e-79 |
PFAM |
|
Pfam:Methyltransf_23
|
163 |
349 |
8.2e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
184 |
375 |
4.3e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
186 |
308 |
1.4e-7 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
305 |
5.1e-9 |
PFAM |
|
Pfam:Pox_MCEL
|
313 |
409 |
2.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129849
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131075
|
| SMART Domains |
Protein: ENSMUSP00000122741
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
205 |
3.1e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131075
|
| SMART Domains |
Protein: ENSMUSP00000122741
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
205 |
3.1e-30 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139111
|
| SMART Domains |
Protein: ENSMUSP00000123500
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
240 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139111
|
| SMART Domains |
Protein: ENSMUSP00000123500
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
240 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151833
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd1 |
G |
A |
X: 72,774,471 (GRCm39) |
V489M |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,291,594 (GRCm39) |
V78E |
probably benign |
Het |
| Atp2b4 |
T |
C |
1: 133,658,216 (GRCm39) |
K565E |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,768,837 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
A |
G |
2: 165,012,576 (GRCm39) |
Y170H |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,647 (GRCm39) |
K45I |
probably damaging |
Het |
| Dnaaf4 |
G |
T |
9: 72,867,939 (GRCm39) |
G67* |
probably null |
Het |
| Hdac8 |
T |
A |
X: 101,543,524 (GRCm39) |
M67L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,086,037 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,205,297 (GRCm39) |
Y380* |
probably null |
Het |
| Mastl |
A |
G |
2: 23,041,005 (GRCm39) |
Y106H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,940,271 (GRCm39) |
E5210G |
possibly damaging |
Het |
| Or12d2 |
T |
A |
17: 37,624,975 (GRCm39) |
H100L |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,726 (GRCm39) |
V20A |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,581,830 (GRCm39) |
Y21C |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,257 (GRCm39) |
E130G |
probably benign |
Het |
| Stk11ip |
T |
A |
1: 75,504,091 (GRCm39) |
L277Q |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,907 (GRCm39) |
S238P |
probably damaging |
Het |
| Tex264 |
A |
C |
9: 106,536,431 (GRCm39) |
L242R |
possibly damaging |
Het |
| Ubald2 |
T |
C |
11: 116,325,401 (GRCm39) |
F46S |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,140 (GRCm39) |
V463A |
probably benign |
Het |
|
| Other mutations in Rnmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02231:Rnmt
|
APN |
18 |
68,447,152 (GRCm39) |
nonsense |
probably null |
|
|
acre
|
UTSW |
18 |
68,447,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
talenti
|
UTSW |
18 |
68,452,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03098:Rnmt
|
UTSW |
18 |
68,439,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0137:Rnmt
|
UTSW |
18 |
68,446,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1493:Rnmt
|
UTSW |
18 |
68,446,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Rnmt
|
UTSW |
18 |
68,440,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Rnmt
|
UTSW |
18 |
68,444,724 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2224:Rnmt
|
UTSW |
18 |
68,438,854 (GRCm39) |
start gained |
probably benign |
|
|
R3114:Rnmt
|
UTSW |
18 |
68,447,079 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3115:Rnmt
|
UTSW |
18 |
68,447,079 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4424:Rnmt
|
UTSW |
18 |
68,444,742 (GRCm39) |
missense |
probably null |
0.07 |
|
R4705:Rnmt
|
UTSW |
18 |
68,447,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Rnmt
|
UTSW |
18 |
68,438,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4732:Rnmt
|
UTSW |
18 |
68,451,031 (GRCm39) |
intron |
probably benign |
|
|
R5173:Rnmt
|
UTSW |
18 |
68,454,430 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5523:Rnmt
|
UTSW |
18 |
68,446,773 (GRCm39) |
missense |
probably benign |
|
|
R5579:Rnmt
|
UTSW |
18 |
68,439,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5966:Rnmt
|
UTSW |
18 |
68,444,689 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6322:Rnmt
|
UTSW |
18 |
68,452,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7149:Rnmt
|
UTSW |
18 |
68,452,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Rnmt
|
UTSW |
18 |
68,444,726 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7620:Rnmt
|
UTSW |
18 |
68,447,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Rnmt
|
UTSW |
18 |
68,440,723 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9093:Rnmt
|
UTSW |
18 |
68,451,146 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9436:Rnmt
|
UTSW |
18 |
68,442,410 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Rnmt
|
UTSW |
18 |
68,440,745 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCTTGGTCTGTAACGGAAGTC -3'
(R):5'- ACAGGTAGAGTCCTAACGCTGTCC -3'
Sequencing Primer
(F):5'- TCTGTAACGGAAGTCAGGCG -3'
(R):5'- TCCCAAGGGAATACTTCTGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation