Incidental Mutation 'R3424:Mettl24'
| ID |
267856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mettl24
|
| Ensembl Gene |
ENSMUSG00000045555 |
| Gene Name |
methyltransferase like 24 |
| Synonyms |
9030224M15Rik |
| MMRRC Submission |
040642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3424 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40559278-40687079 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 40559637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 96
(Q96*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058747]
[ENSMUST00000213856]
|
| AlphaFold |
Q8CCB5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058747
AA Change: Q96*
|
| SMART Domains |
Protein: ENSMUSP00000049997
Gene: ENSMUSG00000045555
AA Change: Q96*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_21
|
131 |
328 |
3.8e-8 |
PFAM |
|
Pfam:Methyltransf_22
|
139 |
344 |
3.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213856
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
G |
T |
12: 31,234,632 (GRCm39) |
|
noncoding transcript |
Het |
| Atp8b3 |
T |
C |
10: 80,372,181 (GRCm39) |
E16G |
probably benign |
Het |
| BC016579 |
T |
A |
16: 45,449,846 (GRCm39) |
I191F |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,212,660 (GRCm39) |
I1584L |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,823,381 (GRCm39) |
D1011N |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,336,590 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,937,549 (GRCm39) |
D811G |
probably damaging |
Het |
| Dst |
T |
G |
1: 34,237,586 (GRCm39) |
|
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,158,058 (GRCm39) |
L227P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,536,539 (GRCm39) |
V52A |
probably benign |
Het |
| Golga4 |
A |
C |
9: 118,363,715 (GRCm39) |
D229A |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,075,833 (GRCm39) |
T1495I |
possibly damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,657 (GRCm39) |
Y12C |
probably damaging |
Het |
| Hps1 |
A |
T |
19: 42,748,952 (GRCm39) |
M522K |
possibly damaging |
Het |
| Lrrc8e |
A |
T |
8: 4,284,611 (GRCm39) |
I279F |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,279,595 (GRCm39) |
N193S |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,853,558 (GRCm39) |
L347P |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,911,830 (GRCm39) |
E231V |
probably damaging |
Het |
| Oxtr |
G |
T |
6: 112,454,191 (GRCm39) |
H24Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,980,671 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,432 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,768,976 (GRCm39) |
S295R |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,018,776 (GRCm39) |
|
probably benign |
Het |
| Tspan31 |
T |
A |
10: 126,904,371 (GRCm39) |
Q141L |
probably benign |
Het |
| Virma |
G |
T |
4: 11,513,177 (GRCm39) |
E344* |
probably null |
Het |
| Zbtb17 |
G |
T |
4: 141,192,299 (GRCm39) |
G415C |
probably damaging |
Het |
|
| Other mutations in Mettl24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Mettl24
|
APN |
10 |
40,686,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0381:Mettl24
|
UTSW |
10 |
40,622,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:Mettl24
|
UTSW |
10 |
40,686,615 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1172:Mettl24
|
UTSW |
10 |
40,613,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1430:Mettl24
|
UTSW |
10 |
40,613,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Mettl24
|
UTSW |
10 |
40,613,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1940:Mettl24
|
UTSW |
10 |
40,613,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:Mettl24
|
UTSW |
10 |
40,559,413 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5430:Mettl24
|
UTSW |
10 |
40,613,780 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5889:Mettl24
|
UTSW |
10 |
40,622,486 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6893:Mettl24
|
UTSW |
10 |
40,613,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7072:Mettl24
|
UTSW |
10 |
40,559,509 (GRCm39) |
missense |
probably benign |
|
|
R7177:Mettl24
|
UTSW |
10 |
40,686,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Mettl24
|
UTSW |
10 |
40,686,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7898:Mettl24
|
UTSW |
10 |
40,686,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0022:Mettl24
|
UTSW |
10 |
40,622,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGAACGCTTCTCTGCAG -3'
(R):5'- TGAGTGAGACTACAGAAAGTTCC -3'
Sequencing Primer
(F):5'- CCTACGGCTTTGCATGGAG -3'
(R):5'- TTCCAGGGAGAGCTCAGCTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation