Incidental Mutation 'R7795:Mettl8'
ID |
600158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mettl8
|
Ensembl Gene |
ENSMUSG00000041975 |
Gene Name |
methyltransferase 8, methylcytidine |
Synonyms |
TIP |
MMRRC Submission |
045851-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.880)
|
Stock # |
R7795 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
70794905-70885927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70812243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 131
(T131A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090849]
[ENSMUST00000100037]
[ENSMUST00000112179]
[ENSMUST00000112186]
[ENSMUST00000121586]
[ENSMUST00000148876]
[ENSMUST00000149181]
|
AlphaFold |
A2AUU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090849
AA Change: T102A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100037
AA Change: T131A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097615 Gene: ENSMUSG00000041975 AA Change: T131A
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
AA Change: T178A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000107800 Gene: ENSMUSG00000041975 AA Change: T178A
Domain | Start | End | E-Value | Type |
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112186
AA Change: T178A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107804 Gene: ENSMUSG00000041975 AA Change: T178A
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 benign
Transcript: ENSMUST00000121586
AA Change: T178A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113642 Gene: ENSMUSG00000041975 AA Change: T178A
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 |
probably benign
Transcript: ENSMUST00000148876
AA Change: T178A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000115855 Gene: ENSMUSG00000041975 AA Change: T178A
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
AA Change: T96A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000119863 Gene: ENSMUSG00000041975 AA Change: T96A
Domain | Start | End | E-Value | Type |
SCOP:d1af7_2
|
107 |
137 |
7e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankle1 |
T |
C |
8: 71,861,337 (GRCm39) |
S391P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,570 (GRCm39) |
Q606R |
probably benign |
Het |
Bmf |
A |
G |
2: 118,377,358 (GRCm39) |
L130P |
probably damaging |
Het |
Ccdc88c |
G |
A |
12: 100,889,570 (GRCm39) |
T1491I |
probably benign |
Het |
Cyp2c69 |
G |
A |
19: 39,864,663 (GRCm39) |
R272C |
probably benign |
Het |
Defa27 |
A |
G |
8: 21,806,354 (GRCm39) |
N78S |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,101,447 (GRCm39) |
D912E |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,099,288 (GRCm39) |
D743N |
probably damaging |
Het |
Epcam |
T |
C |
17: 87,950,983 (GRCm39) |
V190A |
probably benign |
Het |
Exoc2 |
G |
A |
13: 31,060,756 (GRCm39) |
R583* |
probably null |
Het |
Extl1 |
T |
A |
4: 134,091,990 (GRCm39) |
I288F |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fcer2a |
T |
A |
8: 3,732,910 (GRCm39) |
Y299F |
probably benign |
Het |
Frmd4a |
G |
A |
2: 4,595,506 (GRCm39) |
G439R |
probably damaging |
Het |
Gal3st4 |
T |
C |
5: 138,269,100 (GRCm39) |
H120R |
probably benign |
Het |
Grid1 |
C |
A |
14: 35,043,642 (GRCm39) |
N332K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,281,896 (GRCm39) |
Y92H |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,148,772 (GRCm39) |
E283G |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lrrc24 |
A |
G |
15: 76,602,248 (GRCm39) |
L169P |
probably benign |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,460,154 (GRCm39) |
D383E |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,479,198 (GRCm39) |
K167N |
probably benign |
Het |
Nkx6-1 |
A |
T |
5: 101,811,628 (GRCm39) |
L158Q |
unknown |
Het |
Nlrp5 |
G |
A |
7: 23,118,219 (GRCm39) |
V648M |
possibly damaging |
Het |
Nvl |
G |
T |
1: 180,924,722 (GRCm39) |
Q811K |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,027 (GRCm39) |
F220L |
possibly damaging |
Het |
Or13p3 |
C |
A |
4: 118,566,855 (GRCm39) |
H84N |
possibly damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,453 (GRCm39) |
T222A |
probably benign |
Het |
Or3a1c |
T |
A |
11: 74,046,844 (GRCm39) |
L288Q |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,881,316 (GRCm39) |
Y224C |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,334,657 (GRCm39) |
Y324H |
probably benign |
Het |
Pecam1 |
C |
A |
11: 106,586,658 (GRCm39) |
E286* |
probably null |
Het |
Prl7d1 |
A |
T |
13: 27,893,263 (GRCm39) |
L215Q |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,319,729 (GRCm39) |
Y2514* |
probably null |
Het |
Rgs11 |
A |
G |
17: 26,426,552 (GRCm39) |
H261R |
possibly damaging |
Het |
Samd15 |
A |
G |
12: 87,247,506 (GRCm39) |
T64A |
probably benign |
Het |
Shc4 |
T |
A |
2: 125,565,285 (GRCm39) |
S5C |
probably damaging |
Het |
Shroom3 |
G |
A |
5: 93,067,508 (GRCm39) |
V109M |
probably damaging |
Het |
Spata13 |
T |
C |
14: 60,929,291 (GRCm39) |
I283T |
possibly damaging |
Het |
Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
Synj2bp |
G |
A |
12: 81,548,922 (GRCm39) |
P106S |
probably benign |
Het |
Tasor |
T |
C |
14: 27,203,340 (GRCm39) |
S289P |
|
Het |
Thoc1 |
T |
C |
18: 9,986,300 (GRCm39) |
V344A |
probably damaging |
Het |
Vmn1r71 |
A |
G |
7: 10,482,136 (GRCm39) |
L184S |
probably damaging |
Het |
Vps45 |
A |
G |
3: 95,926,936 (GRCm39) |
I537T |
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 |
R5278:Mettl8
|
UTSW |
2 |
70,803,641 (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 |
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'- GCCACAAGCTTAAAACTTGACTG -3'
(R):5'- TTGAGGGAATTTCCTGAAATCCTTC -3'
Sequencing Primer
(F):5'- CTTGACTGATTAAAGTCCCTGAAG -3'
(R):5'- GAAATCCTTCCTGTTAATCAAAACAC -3'
|
Posted On |
2019-11-26 |