Incidental Mutation 'R4261:Myef2'
ID |
322642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myef2
|
Ensembl Gene |
ENSMUSG00000027201 |
Gene Name |
myelin basic protein expression factor 2, repressor |
Synonyms |
|
MMRRC Submission |
041074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R4261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
124926548-124965581 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124957399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 119
(T119A)
|
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: T119A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000066312 Gene: ENSMUSG00000027201 AA Change: T119A
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: T74A
|
SMART Domains |
Protein: ENSMUSP00000087258 Gene: ENSMUSG00000027201 AA Change: T74A
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: T119A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106127 Gene: ENSMUSG00000027201 AA Change: T119A
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: T84A
|
SMART Domains |
Protein: ENSMUSP00000123222 Gene: ENSMUSG00000027201 AA Change: T84A
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: T119A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115519 Gene: ENSMUSG00000027201 AA Change: T119A
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 benign
Transcript: ENSMUST00000147105
AA Change: T119A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114817 Gene: ENSMUSG00000027201 AA Change: T119A
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 |
possibly damaging
Transcript: ENSMUST00000152367
AA Change: T119A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123088 Gene: ENSMUSG00000027201 AA Change: T119A
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 |
|
Meta Mutation Damage Score |
0.0840 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (53/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
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 |
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'- GGCATATGTCAGACTTGCTCAG -3'
(R):5'- GAAGTGGGCTAACACGGTTG -3'
Sequencing Primer
(F):5'- TGTCAGACTTGCTCAGATAAAACCTC -3'
(R):5'- AACACGGTTGTTAGCTTTTCTAGAG -3'
|
Posted On |
2015-06-20 |