Incidental Mutation 'IGL03098:Rnmt'
| ID |
453001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnmt
|
| Ensembl Gene |
ENSMUSG00000009535 |
| Gene Name |
RNA (guanine-7-) methyltransferase |
| Synonyms |
2610002P10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
68433426-68457923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68439073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 61
(V61M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009679]
[ENSMUST00000025427]
[ENSMUST00000129849]
[ENSMUST00000131075]
[ENSMUST00000139111]
|
| AlphaFold |
Q9D0L8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009679
AA Change: V61M
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000009679
Gene: ENSMUSG00000009535
AA Change: V61M
| 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 |
possibly damaging
Transcript: ENSMUST00000025427
AA Change: V61M
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025427
Gene: ENSMUSG00000009535
AA Change: V61M
| 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 damaging
Transcript: ENSMUST00000129849
AA Change: V61M
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131075
AA Change: V61M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122741
Gene: ENSMUSG00000009535
AA Change: V61M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
205 |
3.1e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139111
AA Change: V61M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123500
Gene: ENSMUSG00000009535
AA Change: V61M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
240 |
1.2e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151833
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
92% (44/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
| Arhgef19 |
A |
G |
4: 140,974,879 (GRCm39) |
D113G |
possibly damaging |
Het |
| Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,584,190 (GRCm39) |
V371A |
probably benign |
Het |
| Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
| Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
| Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,826,567 (GRCm39) |
M1K |
probably null |
Het |
| Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
| Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
| Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
| Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
| Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
| Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
| Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
| Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,327,467 (GRCm39) |
I390T |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
| Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
probably null |
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 |
|
R0137:Rnmt
|
UTSW |
18 |
68,446,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0712:Rnmt
|
UTSW |
18 |
68,440,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TCCAGTGTCGATTGATGAGG -3'
(R):5'- GTCCTGAGGCTGCAGTTTTC -3'
Sequencing Primer
(F):5'- TGCTGTCAGTTCAAGTAACGAG -3'
(R):5'- CTCTTGGTCTGGTTAAGCCTAC -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation