Incidental Mutation 'IGL03152:Myef2l'
| ID |
411132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myef2l
|
| Ensembl Gene |
ENSMUSG00000049230 |
| Gene Name |
myelin expression factor 2 like |
| Synonyms |
Gm9833 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL03152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
10153337-10157622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10153334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 34
(K34N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061419]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061419
AA Change: K34N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058811
Gene: ENSMUSG00000049230
AA Change: K34N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
410 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
459 |
497 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194684
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
A |
5: 16,527,566 (GRCm39) |
N540K |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,646,693 (GRCm39) |
E43G |
probably damaging |
Het |
| Car14 |
A |
C |
3: 95,806,157 (GRCm39) |
C301W |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,217,458 (GRCm39) |
V9I |
possibly damaging |
Het |
| Edar |
A |
G |
10: 58,445,817 (GRCm39) |
F249S |
possibly damaging |
Het |
| Fads2b |
A |
G |
2: 85,330,648 (GRCm39) |
S220P |
probably damaging |
Het |
| Fhip2a |
C |
A |
19: 57,367,264 (GRCm39) |
T269K |
probably damaging |
Het |
| Gm4799 |
A |
G |
10: 82,790,797 (GRCm39) |
|
noncoding transcript |
Het |
| Grk4 |
T |
C |
5: 34,902,701 (GRCm39) |
S418P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,636,598 (GRCm39) |
S774P |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,837,058 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,030 (GRCm39) |
I228N |
possibly damaging |
Het |
| Pcgf6 |
A |
T |
19: 47,037,344 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,868,036 (GRCm39) |
R265C |
probably damaging |
Het |
| Smgc |
A |
G |
15: 91,725,625 (GRCm39) |
K2R |
possibly damaging |
Het |
| Stx5a |
T |
C |
19: 8,727,138 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,012,486 (GRCm39) |
N2560I |
probably benign |
Het |
| Tuba3a |
A |
T |
6: 125,258,300 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,230,001 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,960,972 (GRCm39) |
S452P |
probably damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,991,469 (GRCm39) |
C173R |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,814,008 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Myef2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Myef2l
|
APN |
3 |
10,154,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Myef2l
|
UTSW |
3 |
10,154,379 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0092:Myef2l
|
UTSW |
3 |
10,153,633 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0636:Myef2l
|
UTSW |
3 |
10,153,843 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1493:Myef2l
|
UTSW |
3 |
10,153,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Myef2l
|
UTSW |
3 |
10,154,613 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1957:Myef2l
|
UTSW |
3 |
10,154,346 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3754:Myef2l
|
UTSW |
3 |
10,153,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5658:Myef2l
|
UTSW |
3 |
10,153,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Myef2l
|
UTSW |
3 |
10,153,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Myef2l
|
UTSW |
3 |
10,154,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Myef2l
|
UTSW |
3 |
10,153,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Myef2l
|
UTSW |
3 |
10,153,406 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9036:Myef2l
|
UTSW |
3 |
10,157,341 (GRCm39) |
missense |
unknown |
|
|
R9041:Myef2l
|
UTSW |
3 |
10,157,353 (GRCm39) |
makesense |
probably null |
|
|
R9116:Myef2l
|
UTSW |
3 |
10,153,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9166:Myef2l
|
UTSW |
3 |
10,153,849 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9375:Myef2l
|
UTSW |
3 |
10,153,791 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9408:Myef2l
|
UTSW |
3 |
10,154,407 (GRCm39) |
missense |
probably benign |
0.29 |
|
X0023:Myef2l
|
UTSW |
3 |
10,153,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation