Incidental Mutation 'R1116:Mettl17'
| ID |
97337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl17
|
| Ensembl Gene |
ENSMUSG00000004561 |
| Gene Name |
methyltransferase like 17 |
| Synonyms |
D14Ertd209e, Mett11d1, 2310032K15Rik |
| MMRRC Submission |
039189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52122299-52129325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52127055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 281
(V281A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047726]
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000164902]
[ENSMUST00000165568]
[ENSMUST00000165100]
[ENSMUST00000167984]
[ENSMUST00000168217]
|
| AlphaFold |
Q3U2U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047726
|
| SMART Domains |
Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zip
|
5 |
306 |
1.1e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047899
AA Change: V281A
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: V281A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:Rsm22
|
153 |
442 |
8e-65 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
293 |
5.9e-7 |
PFAM |
|
low complexity region
|
446 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164252
|
| SMART Domains |
Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:Rsm22
|
153 |
235 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164902
AA Change: V281A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: V281A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:Rsm22
|
153 |
467 |
1.7e-61 |
PFAM |
|
Pfam:Methyltransf_11
|
191 |
294 |
3.6e-6 |
PFAM |
|
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165568
AA Change: V228A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rsm22
|
100 |
269 |
1.5e-37 |
PFAM |
|
Pfam:Methyltransf_11
|
138 |
240 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165100
|
| SMART Domains |
Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
Pfam:Rsm22
|
153 |
235 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168217
|
| SMART Domains |
Protein: ENSMUSP00000130565
Gene: ENSMUSG00000004561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
76 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4789 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,506,792 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,349,017 (GRCm39) |
P1028S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,768,814 (GRCm39) |
F717S |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,314,172 (GRCm39) |
Y705N |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,501 (GRCm39) |
I6V |
probably benign |
Het |
| Agps |
T |
G |
2: 75,692,269 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,749,689 (GRCm39) |
Q501* |
probably null |
Het |
| Cacna2d3 |
A |
G |
14: 28,786,278 (GRCm39) |
|
probably benign |
Het |
| Ccnt1 |
G |
A |
15: 98,442,219 (GRCm39) |
R350W |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,518,453 (GRCm39) |
E564K |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,717,554 (GRCm39) |
E1250G |
probably damaging |
Het |
| Cryz |
A |
C |
3: 154,327,240 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,029,824 (GRCm39) |
V494F |
probably benign |
Het |
| Dpep3 |
G |
T |
8: 106,705,461 (GRCm39) |
D96E |
probably damaging |
Het |
| Dyrk3 |
G |
A |
1: 131,056,919 (GRCm39) |
A418V |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,354 (GRCm39) |
N231I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,819,086 (GRCm39) |
|
probably null |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam178b |
A |
T |
1: 36,617,669 (GRCm39) |
C82* |
probably null |
Het |
| Gm1647 |
C |
T |
3: 69,064,205 (GRCm39) |
Q31* |
probably null |
Het |
| Got1 |
T |
A |
19: 43,491,413 (GRCm39) |
K346* |
probably null |
Het |
| Grid2ip |
G |
A |
5: 143,368,669 (GRCm39) |
G656D |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,126 (GRCm39) |
Y530H |
probably damaging |
Het |
| Hyou1 |
T |
C |
9: 44,295,978 (GRCm39) |
I381T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Marchf11 |
T |
C |
15: 26,409,381 (GRCm39) |
L360P |
probably damaging |
Het |
| Micu2 |
A |
T |
14: 58,191,657 (GRCm39) |
D131E |
probably benign |
Het |
| Mug1 |
G |
C |
6: 121,847,604 (GRCm39) |
V661L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,951,145 (GRCm39) |
D1488E |
probably damaging |
Het |
| Nkg7 |
G |
A |
7: 43,086,878 (GRCm39) |
V51I |
probably benign |
Het |
| Nlgn1 |
A |
C |
3: 25,488,038 (GRCm39) |
S766A |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,234 (GRCm39) |
M163L |
probably benign |
Het |
| Otog |
T |
C |
7: 45,950,025 (GRCm39) |
|
probably benign |
Het |
| Pax2 |
T |
C |
19: 44,745,863 (GRCm39) |
S11P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,782,823 (GRCm39) |
D392G |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,943,966 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,600,943 (GRCm39) |
D2868G |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,309,985 (GRCm39) |
L149P |
probably damaging |
Het |
| Purg |
A |
T |
8: 33,876,773 (GRCm39) |
H137L |
probably benign |
Het |
| Slc38a8 |
A |
T |
8: 120,222,872 (GRCm39) |
L150Q |
probably damaging |
Het |
| Tifab |
T |
A |
13: 56,324,025 (GRCm39) |
R139S |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,400,442 (GRCm39) |
H353R |
probably benign |
Het |
| Ulbp3 |
A |
T |
10: 3,070,180 (GRCm39) |
|
noncoding transcript |
Het |
| Upk2 |
A |
G |
9: 44,365,086 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
G |
A |
15: 88,484,823 (GRCm39) |
V53I |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,362 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
C |
T |
9: 22,190,381 (GRCm39) |
E176K |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,504,559 (GRCm39) |
W140R |
possibly damaging |
Het |
|
| Other mutations in Mettl17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Mettl17
|
APN |
14 |
52,126,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00915:Mettl17
|
APN |
14 |
52,124,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02111:Mettl17
|
APN |
14 |
52,128,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Mettl17
|
APN |
14 |
52,125,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1075:Mettl17
|
UTSW |
14 |
52,127,063 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1481:Mettl17
|
UTSW |
14 |
52,128,160 (GRCm39) |
missense |
probably benign |
|
|
R1690:Mettl17
|
UTSW |
14 |
52,128,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Mettl17
|
UTSW |
14 |
52,126,192 (GRCm39) |
splice site |
probably benign |
|
|
R1956:Mettl17
|
UTSW |
14 |
52,126,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4419:Mettl17
|
UTSW |
14 |
52,124,729 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4602:Mettl17
|
UTSW |
14 |
52,126,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Mettl17
|
UTSW |
14 |
52,122,440 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6017:Mettl17
|
UTSW |
14 |
52,129,074 (GRCm39) |
unclassified |
probably benign |
|
|
R6171:Mettl17
|
UTSW |
14 |
52,126,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Mettl17
|
UTSW |
14 |
52,128,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Mettl17
|
UTSW |
14 |
52,126,257 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8726:Mettl17
|
UTSW |
14 |
52,128,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8739:Mettl17
|
UTSW |
14 |
52,128,848 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8865:Mettl17
|
UTSW |
14 |
52,122,308 (GRCm39) |
unclassified |
probably benign |
|
|
R9408:Mettl17
|
UTSW |
14 |
52,125,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Mettl17
|
UTSW |
14 |
52,129,029 (GRCm39) |
missense |
unknown |
|
|
R9559:Mettl17
|
UTSW |
14 |
52,129,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGTGGCACACAAGACAGCAATG -3'
(R):5'- TGGATACCCTAAGGAAGCACCCAG -3'
Sequencing Primer
(F):5'- acacctgtaatctcagcactc -3'
(R):5'- GGAAGCACCCAGACATCTATAAAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation