Incidental Mutation 'IGL03268:Mbnl2'
ID415166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbnl2
Ensembl Gene ENSMUSG00000022139
Gene Namemuscleblind like splicing factor 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL03268
Quality Score
Status
Chromosome14
Chromosomal Location120275669-120431697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 120379157 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 61 (C61F)
Ref Sequence ENSEMBL: ENSMUSP00000126186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]
Predicted Effect probably damaging
Transcript: ENSMUST00000088419
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: C61F

DomainStartEndE-ValueType
ZnF_C3H1 14 40 4.01e-5 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 104 N/A INTRINSIC
low complexity region 150 168 N/A INTRINSIC
ZnF_C3H1 176 203 3.09e-6 SMART
ZnF_C3H1 213 237 7.15e-2 SMART
low complexity region 238 265 N/A INTRINSIC
low complexity region 343 367 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167459
AA Change: C61F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: C61F

DomainStartEndE-ValueType
ZnF_C3H1 14 40 4.01e-5 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 104 N/A INTRINSIC
low complexity region 150 168 N/A INTRINSIC
ZnF_C3H1 176 203 3.09e-6 SMART
ZnF_C3H1 213 237 7.15e-2 SMART
low complexity region 238 265 N/A INTRINSIC
low complexity region 325 349 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226800
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000227012
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227484
Predicted Effect probably damaging
Transcript: ENSMUST00000227594
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227644
Predicted Effect probably benign
Transcript: ENSMUST00000228115
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Mbnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mbnl2 APN 14 120325270 missense probably damaging 1.00
IGL02303:Mbnl2 APN 14 120404647 missense probably benign 0.28
IGL03225:Mbnl2 APN 14 120385463 missense probably benign 0.04
R0193:Mbnl2 UTSW 14 120379237 missense possibly damaging 0.94
R0423:Mbnl2 UTSW 14 120325324 missense probably damaging 1.00
R0470:Mbnl2 UTSW 14 120404650 missense probably damaging 1.00
R1749:Mbnl2 UTSW 14 120389050 missense probably damaging 1.00
R4041:Mbnl2 UTSW 14 120389074 missense probably damaging 1.00
R6190:Mbnl2 UTSW 14 120385421 missense probably benign 0.01
R7346:Mbnl2 UTSW 14 120379282 missense probably benign 0.00
X0018:Mbnl2 UTSW 14 120404689 missense probably damaging 1.00
Z1176:Mbnl2 UTSW 14 120403359 missense probably benign 0.00
Posted On2016-08-02