Incidental Mutation 'IGL01116:Myef2'
ID |
50556 |
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 # |
IGL01116
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124940402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 383
(M383T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000147105]
[ENSMUST00000152367]
|
AlphaFold |
Q8C854 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067780
AA Change: M366T
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066312 Gene: ENSMUSG00000027201 AA Change: M366T
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 |
unknown
Transcript: ENSMUST00000089825
AA Change: M321T
|
SMART Domains |
Protein: ENSMUSP00000087258 Gene: ENSMUSG00000027201 AA Change: M321T
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 |
possibly damaging
Transcript: ENSMUST00000110501
AA Change: M366T
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106127 Gene: ENSMUSG00000027201 AA Change: M366T
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 |
unknown
Transcript: ENSMUST00000137091
AA Change: M348T
|
SMART Domains |
Protein: ENSMUSP00000123222 Gene: ENSMUSG00000027201 AA Change: M348T
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 |
possibly damaging
Transcript: ENSMUST00000142718
AA Change: M383T
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115519 Gene: ENSMUSG00000027201 AA Change: M383T
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 damaging
Transcript: ENSMUST00000147105
AA Change: M366T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114817 Gene: ENSMUSG00000027201 AA Change: M366T
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 damaging
Transcript: ENSMUST00000152367
AA Change: M383T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123088 Gene: ENSMUSG00000027201 AA Change: M383T
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
T |
C |
18: 39,244,856 (GRCm39) |
V167A |
probably damaging |
Het |
Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
Npr2 |
T |
C |
4: 43,640,248 (GRCm39) |
S328P |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
G |
11: 68,422,276 (GRCm39) |
Y225C |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,757 (GRCm39) |
T155A |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,799,654 (GRCm39) |
I675V |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
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 |
IGL02197:Myef2
|
APN |
2 |
124,955,959 (GRCm39) |
splice site |
probably null |
|
IGL02525:Myef2
|
APN |
2 |
124,955,978 (GRCm39) |
splice site |
probably benign |
|
IGL02554:Myef2
|
APN |
2 |
124,942,345 (GRCm39) |
splice site |
probably null |
|
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 |
2013-06-21 |