Incidental Mutation 'R1690:Mettl17'
| ID |
191733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl17
|
| Ensembl Gene |
ENSMUSG00000004561 |
| Gene Name |
methyltransferase like 17 |
| Synonyms |
D14Ertd209e, Mett11d1, 2310032K15Rik |
| MMRRC Submission |
039723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1690 (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 A
at 52128918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 396
(V396D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047726]
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000164902]
[ENSMUST00000168217]
[ENSMUST00000165568]
[ENSMUST00000165100]
|
| 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: V396D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: V396D
| 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 damaging
Transcript: ENSMUST00000164902
AA Change: V396D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: V396D
| 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: ENSMUST00000166408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168413
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165150
|
| 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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,610,950 (GRCm39) |
S263P |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,347,494 (GRCm39) |
E403G |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,615,993 (GRCm39) |
V11E |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,206 (GRCm39) |
C620R |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,739,505 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,871,304 (GRCm39) |
S639P |
possibly damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,844 (GRCm39) |
V717A |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,188 (GRCm39) |
D33G |
possibly damaging |
Het |
| Dpf2 |
C |
T |
19: 5,955,490 (GRCm39) |
R131Q |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgf15 |
A |
G |
7: 144,453,665 (GRCm39) |
S213G |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,355,827 (GRCm39) |
F756Y |
unknown |
Het |
| Hnrnpk |
T |
A |
13: 58,548,168 (GRCm39) |
T13S |
probably benign |
Het |
| Htr3b |
T |
A |
9: 48,848,394 (GRCm39) |
M284L |
possibly damaging |
Het |
| Itgal |
T |
C |
7: 126,901,289 (GRCm39) |
M225T |
possibly damaging |
Het |
| Lipi |
A |
G |
16: 75,338,013 (GRCm39) |
Y454H |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,594,394 (GRCm39) |
K61R |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,320,554 (GRCm39) |
D583G |
probably benign |
Het |
| Nlrc4 |
G |
A |
17: 74,744,518 (GRCm39) |
R788* |
probably null |
Het |
| Or8k25 |
T |
A |
2: 86,244,298 (GRCm39) |
I33F |
probably benign |
Het |
| Pepd |
G |
A |
7: 34,730,782 (GRCm39) |
G278D |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,693 (GRCm39) |
E250G |
probably benign |
Het |
| Prkcsh |
T |
A |
9: 21,921,871 (GRCm39) |
D245E |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,317,676 (GRCm39) |
D84V |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,411,462 (GRCm39) |
T333I |
probably benign |
Het |
| Ptk2 |
T |
A |
15: 73,134,459 (GRCm39) |
I547F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,732 (GRCm39) |
S162T |
probably damaging |
Het |
| Rnf41 |
C |
A |
10: 128,271,329 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,506,287 (GRCm39) |
D1534A |
probably damaging |
Het |
| Septin12 |
A |
G |
16: 4,806,378 (GRCm39) |
V261A |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,747,101 (GRCm39) |
S110P |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,272,144 (GRCm39) |
S114T |
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,952,813 (GRCm39) |
Y139C |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,777,354 (GRCm39) |
|
probably null |
Het |
| Tmem202 |
T |
A |
9: 59,426,391 (GRCm39) |
R258S |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,145,414 (GRCm39) |
I604N |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,932,294 (GRCm39) |
D467G |
probably damaging |
Het |
| Zc3hc1 |
A |
G |
6: 30,390,940 (GRCm39) |
V21A |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,120,706 (GRCm39) |
I294F |
possibly damaging |
Het |
| Zfp825 |
T |
A |
13: 74,628,781 (GRCm39) |
H227L |
probably benign |
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 |
|
R1116:Mettl17
|
UTSW |
14 |
52,127,055 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1481:Mettl17
|
UTSW |
14 |
52,128,160 (GRCm39) |
missense |
probably benign |
|
|
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'- TAAGGTGACACAGCCTAACCCAGG -3'
(R):5'- GCGATCACAGGTAAAAGGTCTCCC -3'
Sequencing Primer
(F):5'- CTCTGTGATTTACAGCGTGAGAAAG -3'
(R):5'- GTAAAAGGTCTCCCCAGGAGC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation