Incidental Mutation 'IGL02554:Myef2'
ID |
298451 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myef2
|
Ensembl Gene |
ENSMUSG00000027201 |
Gene Name |
myelin basic protein expression factor 2, repressor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
IGL02554
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 124942345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000147105]
[ENSMUST00000152367]
|
AlphaFold |
Q8C854 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067780
|
SMART Domains |
Protein: ENSMUSP00000066312 Gene: ENSMUSG00000027201
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
|
430 |
450 |
N/A |
INTRINSIC |
RRM
|
498 |
569 |
6.15e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083917
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089825
|
SMART Domains |
Protein: ENSMUSP00000087258 Gene: ENSMUSG00000027201
Domain | Start | End | E-Value | Type |
RRM
|
48 |
121 |
1.84e-22 |
SMART |
low complexity region
|
154 |
167 |
N/A |
INTRINSIC |
RRM
|
181 |
253 |
5.12e-21 |
SMART |
low complexity region
|
274 |
291 |
N/A |
INTRINSIC |
low complexity region
|
386 |
406 |
N/A |
INTRINSIC |
RRM
|
454 |
525 |
6.15e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110501
|
SMART Domains |
Protein: ENSMUSP00000106127 Gene: ENSMUSG00000027201
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
|
430 |
450 |
N/A |
INTRINSIC |
RRM
|
498 |
569 |
6.15e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137091
|
SMART Domains |
Protein: ENSMUSP00000123222 Gene: ENSMUSG00000027201
Domain | Start | End | E-Value | Type |
RRM
|
58 |
131 |
1.84e-22 |
SMART |
low complexity region
|
164 |
177 |
N/A |
INTRINSIC |
RRM
|
191 |
263 |
5.12e-21 |
SMART |
low complexity region
|
284 |
301 |
N/A |
INTRINSIC |
low complexity region
|
317 |
342 |
N/A |
INTRINSIC |
low complexity region
|
348 |
376 |
N/A |
INTRINSIC |
internal_repeat_2
|
412 |
441 |
4.02e-9 |
PROSPERO |
internal_repeat_3
|
419 |
444 |
2.53e-8 |
PROSPERO |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142718
|
SMART Domains |
Protein: ENSMUSP00000115519 Gene: ENSMUSG00000027201
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
|
427 |
443 |
N/A |
INTRINSIC |
RRM
|
491 |
562 |
6.15e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147105
|
SMART Domains |
Protein: ENSMUSP00000114817 Gene: ENSMUSG00000027201
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
|
410 |
426 |
N/A |
INTRINSIC |
RRM
|
474 |
545 |
6.15e-24 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152367
|
SMART Domains |
Protein: ENSMUSP00000123088 Gene: ENSMUSG00000027201
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
|
447 |
467 |
N/A |
INTRINSIC |
RRM
|
515 |
586 |
6.15e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149911
|
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 |
9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
Het |
|
Other mutations in Myef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00963:Myef2
|
APN |
2 |
124,957,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01116:Myef2
|
APN |
2 |
124,940,402 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02197:Myef2
|
APN |
2 |
124,955,959 (GRCm39) |
splice site |
probably null |
|
IGL02525:Myef2
|
APN |
2 |
124,955,978 (GRCm39) |
splice site |
probably benign |
|
IGL03027:Myef2
|
APN |
2 |
124,930,954 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0009:Myef2
|
UTSW |
2 |
124,950,898 (GRCm39) |
missense |
probably benign |
0.03 |
R0510:Myef2
|
UTSW |
2 |
124,950,954 (GRCm39) |
splice site |
probably benign |
|
R0583:Myef2
|
UTSW |
2 |
124,939,901 (GRCm39) |
splice site |
probably null |
|
R1112:Myef2
|
UTSW |
2 |
124,939,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Myef2
|
UTSW |
2 |
124,939,860 (GRCm39) |
splice site |
probably null |
|
R1682:Myef2
|
UTSW |
2 |
124,939,978 (GRCm39) |
missense |
probably damaging |
0.97 |
R1769:Myef2
|
UTSW |
2 |
124,957,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R1983:Myef2
|
UTSW |
2 |
124,940,765 (GRCm39) |
missense |
probably benign |
0.00 |
R2175:Myef2
|
UTSW |
2 |
124,940,375 (GRCm39) |
missense |
probably damaging |
0.99 |
R4261:Myef2
|
UTSW |
2 |
124,957,399 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4643:Myef2
|
UTSW |
2 |
124,958,731 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4712:Myef2
|
UTSW |
2 |
124,930,757 (GRCm39) |
intron |
probably benign |
|
R4914:Myef2
|
UTSW |
2 |
124,951,659 (GRCm39) |
nonsense |
probably null |
|
R5276:Myef2
|
UTSW |
2 |
124,937,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R5507:Myef2
|
UTSW |
2 |
124,958,623 (GRCm39) |
missense |
probably benign |
0.17 |
R5930:Myef2
|
UTSW |
2 |
124,937,651 (GRCm39) |
nonsense |
probably null |
|
R6335:Myef2
|
UTSW |
2 |
124,951,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Myef2
|
UTSW |
2 |
124,958,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R7201:Myef2
|
UTSW |
2 |
124,938,082 (GRCm39) |
splice site |
probably null |
|
R7421:Myef2
|
UTSW |
2 |
124,952,537 (GRCm39) |
missense |
probably benign |
0.03 |
R7619:Myef2
|
UTSW |
2 |
124,965,396 (GRCm39) |
missense |
probably benign |
|
R9623:Myef2
|
UTSW |
2 |
124,957,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |