Incidental Mutation 'R5163:Mettl14'
| ID |
397088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl14
|
| Ensembl Gene |
ENSMUSG00000028114 |
| Gene Name |
methyltransferase 14, N6-adenosine-methyltransferase subunit |
| Synonyms |
G430022H21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5163 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
123161944-123179639 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123168474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 189
(I189V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029759]
[ENSMUST00000090371]
[ENSMUST00000174006]
[ENSMUST00000174323]
|
| AlphaFold |
Q3UIK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029759
AA Change: I189V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029759
Gene: ENSMUSG00000028114
AA Change: I189V
| 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 |
possibly damaging
Transcript: ENSMUST00000090371
AA Change: I189V
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087848
Gene: ENSMUSG00000028114
AA Change: I189V
| 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 |
noncoding transcript
Transcript: ENSMUST00000172687
AA Change: *223W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174006
AA Change: I3V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133741
Gene: ENSMUSG00000028114
AA Change: I3V
| 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 |
possibly damaging
Transcript: ENSMUST00000174323
AA Change: I189V
PolyPhen 2
Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134198
Gene: ENSMUSG00000028114
AA Change: I189V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
| Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably damaging |
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 |
|
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 |
|
R8044:Mettl14
|
UTSW |
3 |
123,163,309 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- AAGTGTACTCATAACCCCGC -3'
(R):5'- TCTCCATGTCCTAAGGAAGACATTAG -3'
Sequencing Primer
(F):5'- CCGCTTTCTGGACAAATAAGCGTG -3'
(R):5'- AGTCTGCAGTAAACAAAAGATGTAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation