Incidental Mutation 'R4419:Mettl17'
| ID |
327016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl17
|
| Ensembl Gene |
ENSMUSG00000004561 |
| Gene Name |
methyltransferase like 17 |
| Synonyms |
D14Ertd209e, Mett11d1, 2310032K15Rik |
| MMRRC Submission |
041140-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R4419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52122299-52129325 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 52124729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 167
(G167C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047899]
[ENSMUST00000164252]
[ENSMUST00000164902]
[ENSMUST00000165100]
[ENSMUST00000165568]
[ENSMUST00000168217]
[ENSMUST00000167984]
|
| AlphaFold |
Q3U2U7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047899
AA Change: G167C
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561
AA Change: G167C
| 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: ENSMUST00000163603
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164252
AA Change: G167C
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561
AA Change: G167C
| 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: G167C
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561
AA Change: G167C
| 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: ENSMUST00000165100
AA Change: G167C
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561
AA Change: G167C
| 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 |
noncoding transcript
Transcript: ENSMUST00000166408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165568
AA Change: G114C
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561
AA Change: G114C
| 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: ENSMUST00000165150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168409
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
G |
A |
17: 24,377,652 (GRCm39) |
P126L |
probably benign |
Het |
| Arfip2 |
T |
C |
7: 105,288,270 (GRCm39) |
T44A |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,853,537 (GRCm39) |
V90A |
probably benign |
Het |
| Bad |
C |
A |
19: 6,928,053 (GRCm39) |
A115E |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,804 (GRCm39) |
L521P |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,683 (GRCm39) |
S824P |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,867,621 (GRCm39) |
D76E |
possibly damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,443 (GRCm39) |
A2572S |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,567,707 (GRCm39) |
Q2152R |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,535 (GRCm39) |
V150E |
probably damaging |
Het |
| Ddn |
C |
A |
15: 98,703,492 (GRCm39) |
W600L |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,671,373 (GRCm39) |
Y966N |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,379,108 (GRCm39) |
I1352N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,184,224 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
T |
C |
2: 165,153,675 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Ky |
G |
A |
9: 102,419,909 (GRCm39) |
V639I |
probably damaging |
Het |
| Med16 |
G |
A |
10: 79,734,216 (GRCm39) |
A566V |
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,123,813 (GRCm39) |
F318L |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,056,589 (GRCm39) |
A1178D |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,926,706 (GRCm39) |
D51G |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,297,133 (GRCm39) |
N968D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,917,021 (GRCm39) |
H820R |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,586 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,684 (GRCm39) |
F64S |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,365 (GRCm39) |
V108I |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,652,044 (GRCm39) |
D218G |
probably damaging |
Het |
| Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,297,304 (GRCm39) |
G1452C |
probably damaging |
Het |
| Slc22a2 |
C |
A |
17: 12,831,473 (GRCm39) |
S421* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,226 (GRCm39) |
F797L |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,074,990 (GRCm39) |
Y2405* |
probably null |
Het |
| Ss18 |
A |
G |
18: 14,766,662 (GRCm39) |
Y359H |
unknown |
Het |
| St14 |
C |
T |
9: 31,008,224 (GRCm39) |
C537Y |
probably damaging |
Het |
| Tmem252 |
T |
A |
19: 24,654,910 (GRCm39) |
Y96N |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,396 (GRCm39) |
D474G |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,316,559 (GRCm39) |
I20M |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,629 (GRCm39) |
S286P |
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 |
|
|
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 |
|
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'- AGCTTTGCGTTTGAGAAAGCC -3'
(R):5'- GGCCACAGGATTGTTTTCAAAG -3'
Sequencing Primer
(F):5'- GAGAAAGCCTCCTGAAGTCTTCTG -3'
(R):5'- GGATAAATAAAACCATTAGTGTGTGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation