Incidental Mutation 'IGL00963:Myef2'
| ID |
26974 |
| 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 # |
IGL00963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124957395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 120
(Y120C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000147105]
[ENSMUST00000152367]
|
| AlphaFold |
Q8C854 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067780
AA Change: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201
AA Change: Y120C
| 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: Y75C
|
| SMART Domains |
Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201
AA Change: Y75C
| 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 damaging
Transcript: ENSMUST00000110501
AA Change: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201
AA Change: Y120C
| 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: Y85C
|
| SMART Domains |
Protein: ENSMUSP00000123222
Gene: ENSMUSG00000027201
AA Change: Y85C
| 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 damaging
Transcript: ENSMUST00000142718
AA Change: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201
AA Change: Y120C
| 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: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201
AA Change: Y120C
| 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 |
noncoding transcript
Transcript: ENSMUST00000149911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152367
AA Change: Y120C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201
AA Change: Y120C
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
| Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,939,863 (GRCm39) |
S497P |
probably damaging |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
| Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
| Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
| Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
| Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
| Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,895 (GRCm39) |
C356R |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,584 (GRCm39) |
Y229F |
possibly damaging |
Het |
| Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
| Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
| Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
| Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,289 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,307,549 (GRCm39) |
D1073G |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
| Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
probably benign |
Het |
|
| Other mutations in Myef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation