Incidental Mutation 'IGL02573:Mettl17'
| ID |
299117 |
| 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 # |
IGL02573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
52122299-52129325 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 52125504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000164902]
[ENSMUST00000165100]
[ENSMUST00000168217]
[ENSMUST00000165568]
[ENSMUST00000167984]
|
| AlphaFold |
Q3U2U7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047899
|
| SMART Domains |
Protein: ENSMUSP00000047720
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 |
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 null
Transcript: ENSMUST00000164902
|
| SMART Domains |
Protein: ENSMUSP00000130200
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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000168413
|
| 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 |
probably null
Transcript: ENSMUST00000165568
|
| SMART Domains |
Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561
| 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: 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
| B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
| Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
| Ehd1 |
T |
C |
19: 6,344,330 (GRCm39) |
S197P |
probably damaging |
Het |
| Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
| Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
| Mgat5b |
T |
C |
11: 116,868,540 (GRCm39) |
Y488H |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
| Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
| Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
| Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,164,087 (GRCm39) |
I339T |
possibly damaging |
Het |
| Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
| Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
| Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
| Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,431,095 (GRCm39) |
D405G |
probably damaging |
Het |
| Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
| Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
| Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
| Usp29 |
A |
T |
7: 6,965,617 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation