Incidental Mutation 'R2175:Myef2'
| ID |
236812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myef2
|
| Ensembl Gene |
ENSMUSG00000027201 |
| Gene Name |
myelin basic protein expression factor 2, repressor |
| Synonyms |
|
| MMRRC Submission |
040177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R2175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124940375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 392
(M392K)
|
| 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: M375K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201
AA Change: M375K
| 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: M330K
|
| SMART Domains |
Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201
AA Change: M330K
| 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: M375K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201
AA Change: M375K
| 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: M357K
|
| SMART Domains |
Protein: ENSMUSP00000123222
Gene: ENSMUSG00000027201
AA Change: M357K
| 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: M392K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201
AA Change: M392K
| 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: M375K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201
AA Change: M375K
| 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: M392K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201
AA Change: M392K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
| Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
| Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
| Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
| Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
| Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
| Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
| Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGCCCATGTGCCTTCTG -3'
(R):5'- GCTGTTGGCAAACATTGAGC -3'
Sequencing Primer
(F):5'- GCCCATGTGCCTTCTGAAGAC -3'
(R):5'- AAAGGATGGTGCTGTGTTAACTACC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation