Incidental Mutation 'R4643:Myef2'
ID |
351713 |
Institutional Source |
Beutler Lab
|
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: 0.221)
|
Stock # |
R4643 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124958731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 66
(K66R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114817
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000147105]
[ENSMUST00000152367]
|
AlphaFold |
Q8C854 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067780
AA Change: K66R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066312 Gene: ENSMUSG00000027201 AA Change: K66R
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: K21R
|
SMART Domains |
Protein: ENSMUSP00000087258 Gene: ENSMUSG00000027201 AA Change: K21R
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
AA Change: K66R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106127 Gene: ENSMUSG00000027201 AA Change: K66R
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: K31R
|
SMART Domains |
Protein: ENSMUSP00000123222 Gene: ENSMUSG00000027201 AA Change: K31R
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 benign
Transcript: ENSMUST00000142718
AA Change: K66R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115519 Gene: ENSMUSG00000027201 AA Change: K66R
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 |
possibly damaging
Transcript: ENSMUST00000147105
AA Change: K66R
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114817 Gene: ENSMUSG00000027201 AA Change: K66R
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 benign
Transcript: ENSMUST00000152367
AA Change: K66R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123088 Gene: ENSMUSG00000027201 AA Change: K66R
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: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
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 |
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 |
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'- ATAAAGTCTGCTTACGTCCTCC -3'
(R):5'- ACAGTATGGAGCTCTCAGGC -3'
Sequencing Primer
(F):5'- GTCCTCCCCTTCCTATACAAAGAC -3'
(R):5'- AGCTCTCAGGCCGGCTTC -3'
|
Posted On |
2015-10-08 |