Incidental Mutation 'R5278:Mettl8'
| ID |
404032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl8
|
| Ensembl Gene |
ENSMUSG00000041975 |
| Gene Name |
methyltransferase 8, methylcytidine |
| Synonyms |
TIP |
| MMRRC Submission |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.880)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
70794905-70885927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70803641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 262
(D262E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100037]
[ENSMUST00000112179]
[ENSMUST00000112186]
[ENSMUST00000121586]
[ENSMUST00000148876]
[ENSMUST00000149181]
|
| AlphaFold |
A2AUU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100037
AA Change: D215E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: D215E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
115 |
304 |
1.4e-14 |
PFAM |
|
Pfam:Ubie_methyltran
|
126 |
265 |
1.4e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
137 |
304 |
5.6e-10 |
PFAM |
|
Pfam:Methyltransf_26
|
140 |
251 |
4.2e-8 |
PFAM |
|
Pfam:Methyltransf_25
|
143 |
246 |
5.3e-13 |
PFAM |
|
Pfam:Methyltransf_12
|
144 |
248 |
1e-12 |
PFAM |
|
Pfam:Methyltransf_11
|
144 |
250 |
7.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112179
|
| SMART Domains |
Protein: ENSMUSP00000107800
Gene: ENSMUSG00000041975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112186
AA Change: D262E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: D262E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
158 |
349 |
5.1e-15 |
PFAM |
|
Pfam:Ubie_methyltran
|
173 |
312 |
8.7e-8 |
PFAM |
|
Pfam:Methyltransf_31
|
184 |
348 |
3.7e-9 |
PFAM |
|
Pfam:Methyltransf_25
|
190 |
293 |
3.9e-13 |
PFAM |
|
Pfam:Methyltransf_12
|
191 |
295 |
7e-13 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
297 |
6.2e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121586
AA Change: D262E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975
AA Change: D262E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_25
|
190 |
279 |
1.4e-6 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
280 |
5.6e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124781
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140293
AA Change: D30E
|
| SMART Domains |
Protein: ENSMUSP00000118026
Gene: ENSMUSG00000041975
AA Change: D30E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
2 |
66 |
2.2e-8 |
PFAM |
|
Pfam:Methyltransf_23
|
3 |
109 |
6.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148876
AA Change: D262E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975
AA Change: D262E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_25
|
190 |
281 |
1.9e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
280 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149181
|
| SMART Domains |
Protein: ENSMUSP00000119863
Gene: ENSMUSG00000041975
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1af7_2
|
107 |
137 |
7e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.9285 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: This locus encodes a member of the methyltransferase family, and is involved in chromatin remodeling. Transcripts from this locus can be induced or inhibited by cell stretch and affect cell differentiation in the myogenic or adipogenic pathways. Multiple transcript variants encoding different isoforms have been found for this gene. Additional splice variants have been described in the literature but they meet nonsense-mediated decay (NMD) criteria and are likely to be degraded as soon as they are transcribed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of mRNA. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,823,851 (GRCm39) |
E915G |
probably damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
Het |
|
| Other mutations in Mettl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00795:Mettl8
|
APN |
2 |
70,812,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01370:Mettl8
|
APN |
2 |
70,812,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Mettl8
|
UTSW |
2 |
70,812,495 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1944:Mettl8
|
UTSW |
2 |
70,803,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Mettl8
|
UTSW |
2 |
70,795,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Mettl8
|
UTSW |
2 |
70,795,913 (GRCm39) |
missense |
probably benign |
|
|
R5864:Mettl8
|
UTSW |
2 |
70,812,357 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6272:Mettl8
|
UTSW |
2 |
70,806,419 (GRCm39) |
splice site |
probably null |
|
|
R6402:Mettl8
|
UTSW |
2 |
70,796,805 (GRCm39) |
nonsense |
probably null |
|
|
R6535:Mettl8
|
UTSW |
2 |
70,803,733 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7181:Mettl8
|
UTSW |
2 |
70,803,706 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7288:Mettl8
|
UTSW |
2 |
70,812,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7409:Mettl8
|
UTSW |
2 |
70,803,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Mettl8
|
UTSW |
2 |
70,795,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7639:Mettl8
|
UTSW |
2 |
70,812,526 (GRCm39) |
missense |
probably benign |
|
|
R7789:Mettl8
|
UTSW |
2 |
70,796,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Mettl8
|
UTSW |
2 |
70,812,243 (GRCm39) |
missense |
probably benign |
|
|
R8934:Mettl8
|
UTSW |
2 |
70,882,062 (GRCm39) |
unclassified |
probably benign |
|
|
R9600:Mettl8
|
UTSW |
2 |
70,812,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0062:Mettl8
|
UTSW |
2 |
70,812,318 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Mettl8
|
UTSW |
2 |
70,803,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCATGTTAAACATAACGGAG -3'
(R):5'- TCTCACTGACCCAAGAACGG -3'
Sequencing Primer
(F):5'- CATGTTAAACATAACGGAGTGCGC -3'
(R):5'- AAGAGGAGGGAAGGGAAGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation