Incidental Mutation 'R7620:Rnmt'
| ID |
589122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnmt
|
| Ensembl Gene |
ENSMUSG00000009535 |
| Gene Name |
RNA (guanine-7-) methyltransferase |
| Synonyms |
2610002P10Rik |
| MMRRC Submission |
045687-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
68433426-68457923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68447105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 330
(Y330N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009679]
[ENSMUST00000025427]
[ENSMUST00000131075]
[ENSMUST00000139111]
|
| AlphaFold |
Q9D0L8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009679
AA Change: Y330N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009679
Gene: ENSMUSG00000009535
AA Change: Y330N
| 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 benign
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: 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 benign
Transcript: ENSMUST00000139111
|
| SMART Domains |
Protein: ENSMUSP00000123500
Gene: ENSMUSG00000009535
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pox_MCEL
|
125 |
240 |
1.2e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.8697 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,173,702 (GRCm39) |
T236A |
probably damaging |
Het |
| Alkbh7 |
A |
G |
17: 57,304,551 (GRCm39) |
Y63C |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,614 (GRCm39) |
C98S |
probably damaging |
Het |
| Ccr9 |
T |
A |
9: 123,608,911 (GRCm39) |
C198S |
probably damaging |
Het |
| Chil3 |
T |
A |
3: 106,067,751 (GRCm39) |
D138V |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,174,240 (GRCm39) |
E66D |
probably benign |
Het |
| Cpz |
A |
T |
5: 35,669,194 (GRCm39) |
N312K |
possibly damaging |
Het |
| Crat |
A |
G |
2: 30,298,090 (GRCm39) |
I203T |
probably damaging |
Het |
| Cyp2j13 |
T |
A |
4: 95,944,899 (GRCm39) |
H410L |
probably benign |
Het |
| Cyp39a1 |
G |
A |
17: 44,036,544 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
T |
14: 31,025,863 (GRCm39) |
I828N |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,794 (GRCm39) |
D3036G |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,290,092 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,722,969 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,301 (GRCm39) |
D394G |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,462,887 (GRCm39) |
K1235E |
possibly damaging |
Het |
| Gabre |
C |
A |
X: 71,313,865 (GRCm39) |
Q311H |
unknown |
Het |
| Garem1 |
T |
C |
18: 21,262,898 (GRCm39) |
S639G |
probably benign |
Het |
| Gsdma |
A |
G |
11: 98,557,429 (GRCm39) |
T123A |
probably benign |
Het |
| Iqcb1 |
A |
G |
16: 36,676,772 (GRCm39) |
N369S |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,609,270 (GRCm39) |
V286F |
probably benign |
Het |
| Lgsn |
T |
C |
1: 31,242,461 (GRCm39) |
M181T |
probably benign |
Het |
| Mapk15 |
T |
G |
15: 75,870,697 (GRCm39) |
S512A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,267 (GRCm39) |
T127A |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,614 (GRCm39) |
F315L |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,071,418 (GRCm39) |
D673E |
probably benign |
Het |
| Nup88 |
G |
C |
11: 70,860,605 (GRCm39) |
P58R |
probably benign |
Het |
| Or4x12-ps1 |
A |
C |
2: 89,915,977 (GRCm39) |
I276R |
probably damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,962 (GRCm39) |
V50L |
possibly damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
T |
C |
17: 36,178,191 (GRCm39) |
V22A |
probably benign |
Het |
| Psme1 |
T |
A |
14: 55,817,797 (GRCm39) |
C101* |
probably null |
Het |
| Rapgef4 |
G |
T |
2: 72,059,422 (GRCm39) |
C743F |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,573,014 (GRCm39) |
M261L |
possibly damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,278,691 (GRCm39) |
Y192H |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,396 (GRCm39) |
Y221H |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,237,684 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,444,020 (GRCm39) |
|
probably null |
Het |
| Trp73 |
G |
A |
4: 154,143,714 (GRCm39) |
Q551* |
probably null |
Het |
| Vmn2r45 |
C |
T |
7: 8,486,222 (GRCm39) |
W355* |
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,066,042 (GRCm39) |
I678V |
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 |
|
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 |
|
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'- GCACCACTCCCAATAGCTTTG -3'
(R):5'- ACAGCAATATGAATTTTGCCCC -3'
Sequencing Primer
(F):5'- CACTCCCAATAGCTTTGAACTGATG -3'
(R):5'- GAATTTTGCCCCCTTAGGACAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation