Incidental Mutation 'R8044:Mettl14'
| ID |
618659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl14
|
| Ensembl Gene |
ENSMUSG00000028114 |
| Gene Name |
methyltransferase 14, N6-adenosine-methyltransferase subunit |
| Synonyms |
G430022H21Rik |
| MMRRC Submission |
067481-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123163309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 366
(N366S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000047923]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
| AlphaFold |
Q3UIK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029759
AA Change: N366S
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: N366S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
363 |
2.7e-66 |
PFAM |
|
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047923
|
| SMART Domains |
Protein: ENSMUSP00000035823
Gene: ENSMUSG00000039234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
256 |
N/A |
INTRINSIC |
|
Pfam:zf-Sec23_Sec24
|
360 |
398 |
1.8e-16 |
PFAM |
|
Pfam:Sec23_trunk
|
437 |
681 |
3.6e-88 |
PFAM |
|
Pfam:Sec23_BS
|
686 |
770 |
2e-20 |
PFAM |
|
Pfam:Sec23_helical
|
783 |
884 |
1e-27 |
PFAM |
|
Pfam:Gelsolin
|
899 |
974 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090371
|
| SMART Domains |
Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
289 |
3e-33 |
PFAM |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174006
AA Change: N149S
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: N149S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
28 |
146 |
6e-45 |
PFAM |
|
low complexity region
|
180 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174323
|
| SMART Domains |
Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
65 |
90 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
186 |
360 |
7.3e-63 |
PFAM |
|
| Meta Mutation Damage Score |
0.1073 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
T |
C |
8: 86,138,747 (GRCm39) |
E114G |
possibly damaging |
Het |
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,511 (GRCm39) |
N235S |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,777,449 (GRCm39) |
N166I |
probably damaging |
Het |
| Cd300ld2 |
C |
T |
11: 114,904,545 (GRCm39) |
W107* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,683,593 (GRCm39) |
E806D |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,172 (GRCm39) |
K337R |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,062,141 (GRCm39) |
D409G |
probably damaging |
Het |
| Efhb |
G |
A |
17: 53,706,143 (GRCm39) |
S798L |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,621,083 (GRCm39) |
F322S |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,456,216 (GRCm39) |
Y695H |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,711,421 (GRCm39) |
F289S |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,311,988 (GRCm39) |
E72G |
unknown |
Het |
| Ntrk2 |
A |
G |
13: 59,274,313 (GRCm39) |
T730A |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,829 (GRCm39) |
Y288C |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,261 (GRCm39) |
L575P |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,887 (GRCm39) |
S710G |
possibly damaging |
Het |
| Pramel32 |
T |
G |
4: 88,548,212 (GRCm39) |
E64D |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,386,881 (GRCm39) |
K627E |
possibly damaging |
Het |
| Rab24 |
A |
G |
13: 55,469,345 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,320,342 (GRCm39) |
F300L |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tert |
A |
G |
13: 73,783,568 (GRCm39) |
E590G |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,746,084 (GRCm39) |
L6I |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,262,465 (GRCm39) |
|
silent |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,926,320 (GRCm39) |
H387L |
possibly damaging |
Het |
| Ugt1a7c |
G |
A |
1: 88,023,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Upf2 |
T |
C |
2: 6,034,249 (GRCm39) |
I974T |
unknown |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,516 (GRCm39) |
I200N |
probably benign |
Het |
| Wnt5b |
A |
G |
6: 119,423,319 (GRCm39) |
V115A |
probably damaging |
Het |
| Xpo7 |
C |
A |
14: 70,922,366 (GRCm39) |
R574L |
probably benign |
Het |
|
| Other mutations in Mettl14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Mettl14
|
APN |
3 |
123,164,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Mettl14
|
APN |
3 |
123,165,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01614:Mettl14
|
APN |
3 |
123,167,609 (GRCm39) |
splice site |
probably benign |
|
|
IGL02219:Mettl14
|
APN |
3 |
123,168,540 (GRCm39) |
splice site |
probably benign |
|
|
IGL02960:Mettl14
|
APN |
3 |
123,168,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Mettl14
|
UTSW |
3 |
123,165,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Mettl14
|
UTSW |
3 |
123,165,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Mettl14
|
UTSW |
3 |
123,176,475 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0468:Mettl14
|
UTSW |
3 |
123,165,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Mettl14
|
UTSW |
3 |
123,168,411 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1181:Mettl14
|
UTSW |
3 |
123,167,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Mettl14
|
UTSW |
3 |
123,167,722 (GRCm39) |
splice site |
probably benign |
|
|
R4256:Mettl14
|
UTSW |
3 |
123,177,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Mettl14
|
UTSW |
3 |
123,163,063 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4845:Mettl14
|
UTSW |
3 |
123,165,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Mettl14
|
UTSW |
3 |
123,168,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6476:Mettl14
|
UTSW |
3 |
123,167,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Mettl14
|
UTSW |
3 |
123,168,503 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7682:Mettl14
|
UTSW |
3 |
123,177,253 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7808:Mettl14
|
UTSW |
3 |
123,166,234 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8381:Mettl14
|
UTSW |
3 |
123,168,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Mettl14
|
UTSW |
3 |
123,167,693 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9518:Mettl14
|
UTSW |
3 |
123,167,687 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTGGATCGGTTTCTTTCCCG -3'
(R):5'- GGACCTTTTACAATAGGACATGC -3'
Sequencing Primer
(F):5'- ACCACGGCCAGCAGATG -3'
(R):5'- GCATGTTGTATGTTCTACACCAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation