Incidental Mutation 'IGL00963:Myef2'
ID26974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myef2
Ensembl Gene ENSMUSG00000027201
Gene Namemyelin basic protein expression factor 2, repressor
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.277) question?
Stock #IGL00963
Quality Score
Status
Chromosome2
Chromosomal Location125084628-125123661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125115475 bp
ZygosityHeterozygous
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]
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

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: Y75C
SMART Domains Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201
AA Change: Y75C

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 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

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: Y85C
SMART Domains Protein: ENSMUSP00000123222
Gene: ENSMUSG00000027201
AA Change: Y85C

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 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

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: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201
AA Change: Y120C

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 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

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 A C 19: 41,593,789 probably benign Het
Alyref2 C T 1: 171,504,248 Q198* probably null Het
Ankrd13a T C 5: 114,801,802 S497P probably damaging Het
Chd5 C A 4: 152,382,938 N1644K probably damaging Het
Col13a1 T C 10: 61,838,697 probably benign Het
Ctnna3 T A 10: 64,945,949 D730E probably damaging Het
Dock11 A G X: 36,032,382 Q1197R possibly damaging Het
Drosha T A 15: 12,925,997 I1224N probably damaging Het
Dsc1 T C 18: 20,111,986 K42R probably null Het
Engase A G 11: 118,482,998 D322G probably damaging Het
Ephb2 T C 4: 136,658,951 D829G probably benign Het
Fgfr2 C T 7: 130,228,761 M47I probably damaging Het
Gad1-ps G T 10: 99,445,448 noncoding transcript Het
Gatb A G 3: 85,618,948 S378G probably benign Het
Hivep2 G A 10: 14,129,347 S563N probably damaging Het
Irs2 G A 8: 11,005,867 A855V probably benign Het
Jagn1 T C 6: 113,447,475 S103P probably damaging Het
Kdm6a T A X: 18,246,426 probably benign Het
Lmcd1 T C 6: 112,329,934 C356R probably damaging Het
Mefv T A 16: 3,715,720 Y229F possibly damaging Het
Myo9a T G 9: 59,900,372 I2074S probably damaging Het
Nhs A G X: 161,847,049 S337P probably damaging Het
Nphp4 T G 4: 152,537,861 H566Q probably benign Het
Olfr618 T A 7: 103,597,637 probably null Het
Olfr715 A T 7: 107,129,065 C109* probably null Het
Pabpc2 C A 18: 39,775,337 Q552K possibly damaging Het
Podn T A 4: 108,022,174 N104I probably damaging Het
Rit1 T C 3: 88,726,431 V94A probably damaging Het
Scn7a A T 2: 66,703,945 probably benign Het
Sept4 A T 11: 87,583,373 K29M possibly damaging Het
Sowahb T C 5: 93,044,011 Y283C probably damaging Het
Srbd1 A T 17: 86,115,209 W460R probably damaging Het
Svep1 T A 4: 58,072,791 K2173* probably null Het
Tlr6 T C 5: 64,954,676 N296S possibly damaging Het
Trpm8 A G 1: 88,379,827 D1073G possibly damaging Het
Ttc28 A T 5: 111,286,389 K2399* probably null Het
Ttn A G 2: 76,887,283 probably benign Het
Uroc1 C T 6: 90,338,828 T189I probably benign Het
Usp18 C T 6: 121,255,382 Q122* probably null Het
Zfp420 T C 7: 29,875,093 I246T probably damaging Het
Zfp644 T C 5: 106,638,637 probably null Het
Zfp871 A T 17: 32,774,752 V483E probably benign Het
Other mutations in Myef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Myef2 APN 2 125098482 missense probably damaging 0.99
IGL02197:Myef2 APN 2 125114039 splice site probably null
IGL02525:Myef2 APN 2 125114058 splice site probably benign
IGL02554:Myef2 APN 2 125100425 splice site probably null
IGL03027:Myef2 APN 2 125089034 missense possibly damaging 0.89
R0009:Myef2 UTSW 2 125108978 missense probably benign 0.03
R0510:Myef2 UTSW 2 125109034 splice site probably benign
R0583:Myef2 UTSW 2 125097981 synonymous probably null
R1112:Myef2 UTSW 2 125097586 missense probably damaging 1.00
R1656:Myef2 UTSW 2 125097940 intron probably null
R1682:Myef2 UTSW 2 125098058 missense probably damaging 0.97
R1769:Myef2 UTSW 2 125115443 missense probably damaging 1.00
R1983:Myef2 UTSW 2 125098845 missense probably benign 0.00
R2175:Myef2 UTSW 2 125098455 missense probably damaging 0.99
R4261:Myef2 UTSW 2 125115479 missense possibly damaging 0.77
R4643:Myef2 UTSW 2 125116811 missense possibly damaging 0.78
R4712:Myef2 UTSW 2 125088837 intron probably benign
R4914:Myef2 UTSW 2 125109739 nonsense probably null
R5276:Myef2 UTSW 2 125095721 missense probably damaging 1.00
R5507:Myef2 UTSW 2 125116703 missense probably benign 0.17
R5930:Myef2 UTSW 2 125095731 nonsense probably null
R6335:Myef2 UTSW 2 125109712 missense probably damaging 1.00
R6502:Myef2 UTSW 2 125116682 missense probably damaging 1.00
R7201:Myef2 UTSW 2 125096162 intron probably null
R7421:Myef2 UTSW 2 125110617 missense probably benign 0.03
R7619:Myef2 UTSW 2 125123476 missense probably benign
Posted On2013-04-17