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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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