Incidental Mutation 'R4602:Mettl17'
| ID |
345742 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4602 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52122299-52129325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52126246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 218
(V218A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047726]
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000165100]
[ENSMUST00000165568]
[ENSMUST00000164902]
[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: V218A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: V218A
| 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: V218A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561
AA Change: V218A
| 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 damaging
Transcript: ENSMUST00000165100
AA Change: V218A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561
AA Change: V218A
| 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: ENSMUST00000168413
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165568
AA Change: V165A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561
AA Change: V165A
| 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: ENSMUST00000164902
AA Change: V218A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: V218A
| 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 |
noncoding transcript
Transcript: ENSMUST00000168409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170887
|
| 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 |
probably benign
Transcript: ENSMUST00000167984
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,988,189 (GRCm39) |
K3158E |
possibly damaging |
Het |
| Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,816,372 (GRCm39) |
N247K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,494,259 (GRCm39) |
V447A |
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,067,332 (GRCm39) |
M600R |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,502,727 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,405,906 (GRCm39) |
V215A |
probably damaging |
Het |
| Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
| Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
| Clec14a |
C |
T |
12: 58,314,767 (GRCm39) |
R285H |
probably benign |
Het |
| Ctnna1 |
T |
G |
18: 35,312,880 (GRCm39) |
I244R |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,617,130 (GRCm39) |
N105Y |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,584,625 (GRCm39) |
D67G |
probably benign |
Het |
| Fancm |
G |
A |
12: 65,171,718 (GRCm39) |
R1786H |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,926,552 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,455,228 (GRCm39) |
L2116S |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,209,546 (GRCm39) |
E164G |
probably benign |
Het |
| Gm4922 |
A |
T |
10: 18,660,007 (GRCm39) |
Y238* |
probably null |
Het |
| Gm8257 |
A |
G |
14: 44,893,774 (GRCm39) |
Y62H |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,755,739 (GRCm39) |
F525S |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,434,869 (GRCm39) |
S203A |
probably benign |
Het |
| Hsd17b3 |
C |
A |
13: 64,210,984 (GRCm39) |
|
probably null |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,179 (GRCm39) |
Q81L |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,696,164 (GRCm39) |
V366A |
probably damaging |
Het |
| Jak1 |
G |
T |
4: 101,036,791 (GRCm39) |
A283D |
possibly damaging |
Het |
| Kmt2d |
G |
T |
15: 98,748,140 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,262,086 (GRCm39) |
D354E |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
C |
T |
8: 108,093,855 (GRCm39) |
Q699* |
probably null |
Het |
| Or4s2b |
G |
A |
2: 88,508,240 (GRCm39) |
V14I |
probably benign |
Het |
| Or4s2b |
T |
G |
2: 88,508,523 (GRCm39) |
V101G |
probably benign |
Het |
| Or7e174 |
C |
A |
9: 20,012,540 (GRCm39) |
H162N |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,947,095 (GRCm39) |
S265R |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,430,046 (GRCm39) |
T1258A |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,866 (GRCm39) |
L478Q |
probably damaging |
Het |
| Pde11a |
A |
G |
2: 75,988,677 (GRCm39) |
V488A |
probably benign |
Het |
| Phactr1 |
A |
T |
13: 43,248,441 (GRCm39) |
E463D |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,973,520 (GRCm39) |
N282K |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,935 (GRCm39) |
Y1109N |
probably damaging |
Het |
| Samd9l |
GAA |
GAAA |
6: 3,373,937 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
| Sgk2 |
G |
A |
2: 162,836,674 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,047,378 (GRCm39) |
C404F |
probably benign |
Het |
| Spaca6 |
C |
T |
17: 18,051,387 (GRCm39) |
A21V |
probably damaging |
Het |
| Sphkap |
G |
T |
1: 83,256,782 (GRCm39) |
Y322* |
probably null |
Het |
| Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
| Syt9 |
A |
T |
7: 107,035,594 (GRCm39) |
K204* |
probably null |
Het |
| Taf3 |
A |
G |
2: 9,957,468 (GRCm39) |
V233A |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,637,285 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,249,391 (GRCm39) |
Y114C |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,888,989 (GRCm39) |
I402N |
probably damaging |
Het |
| Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
| 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 |
|
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 |
|
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'- AAGGCATTTGGGTTAAGGTCAG -3'
(R):5'- AAGGATGCTAGCACCATTCCC -3'
Sequencing Primer
(F):5'- CATCAGAAGTTTTTGAATCATCTGCC -3'
(R):5'- TTCCCCTATAATAATGAAAGGAGGCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation