Incidental Mutation 'IGL01370:Mettl8'
| ID |
76111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mettl8
|
| Ensembl Gene |
ENSMUSG00000041975 |
| Gene Name |
methyltransferase 8, methylcytidine |
| Synonyms |
TIP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.880)
|
| Stock # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
70794905-70885927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 70812383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 49
(D49A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090849]
[ENSMUST00000100037]
[ENSMUST00000112179]
[ENSMUST00000112186]
[ENSMUST00000121586]
[ENSMUST00000148876]
[ENSMUST00000149181]
|
| AlphaFold |
A2AUU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100037
AA Change: D84A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: D84A
| 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 |
possibly damaging
Transcript: ENSMUST00000112179
AA Change: D131A
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107800
Gene: ENSMUSG00000041975
AA Change: D131A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112186
AA Change: D131A
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: D131A
| 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 |
possibly damaging
Transcript: ENSMUST00000121586
AA Change: D131A
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975
AA Change: D131A
| 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: ENSMUST00000124208
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148876
AA Change: D131A
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975
AA Change: D131A
| 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 damaging
Transcript: ENSMUST00000149181
AA Change: D49A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119863
Gene: ENSMUSG00000041975
AA Change: D49A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1af7_2
|
107 |
137 |
7e-3 |
SMART |
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,423,503 (GRCm39) |
|
probably benign |
Het |
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation