Incidental Mutation 'IGL00497:Mettl17'
ID |
5880 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mettl17
|
Ensembl Gene |
ENSMUSG00000004561 |
Gene Name |
methyltransferase like 17 |
Synonyms |
D14Ertd209e, Mett11d1, 2310032K15Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL00497
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52122299-52129325 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52126292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 233
(K233N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047726]
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000164902]
[ENSMUST00000165568]
[ENSMUST00000165100]
[ENSMUST00000168217]
[ENSMUST00000167984]
|
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 damaging
Transcript: ENSMUST00000047899
AA Change: K233N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047720 Gene: ENSMUSG00000004561 AA Change: K233N
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 damaging
Transcript: ENSMUST00000164252
AA Change: K233N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130038 Gene: ENSMUSG00000004561 AA Change: K233N
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 |
possibly damaging
Transcript: ENSMUST00000164902
AA Change: K233N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130200 Gene: ENSMUSG00000004561 AA Change: K233N
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 |
possibly damaging
Transcript: ENSMUST00000165568
AA Change: K180N
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129973 Gene: ENSMUSG00000004561 AA Change: K180N
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 |
probably damaging
Transcript: ENSMUST00000165100
AA Change: K233N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132354 Gene: ENSMUSG00000004561 AA Change: K233N
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: ENSMUST00000169019
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165150
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167984
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
probably damaging |
Het |
|
Other mutations in Mettl17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1116:Mettl17
|
UTSW |
14 |
52,127,055 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
|
|
Posted On |
2012-04-20 |