Incidental Mutation 'IGL02382:Mbnl1'
ID291407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbnl1
Ensembl Gene ENSMUSG00000027763
Gene Namemuscleblind like splicing factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL02382
Quality Score
Status
Chromosome3
Chromosomal Location60472830-60629750 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 60625142 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 291 (E291*)
Ref Sequence ENSEMBL: ENSMUSP00000141954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193517] [ENSMUST00000193518] [ENSMUST00000193647] [ENSMUST00000194069] [ENSMUST00000194201] [ENSMUST00000195817]
Predicted Effect probably null
Transcript: ENSMUST00000099087
AA Change: E370*
SMART Domains Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: E370*

DomainStartEndE-ValueType
ZnF_C3H1 14 40 2.57e-3 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 107 N/A INTRINSIC
ZnF_C3H1 178 205 1.77e-6 SMART
ZnF_C3H1 215 239 2.91e-2 SMART
low complexity region 248 273 N/A INTRINSIC
low complexity region 338 361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191638
Predicted Effect probably null
Transcript: ENSMUST00000191747
AA Change: E243*
SMART Domains Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: E243*

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
ZnF_C3H1 86 113 1.77e-6 SMART
ZnF_C3H1 123 147 2.91e-2 SMART
low complexity region 156 185 N/A INTRINSIC
low complexity region 211 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192607
AA Change: R338L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: R338L

DomainStartEndE-ValueType
ZnF_C3H1 14 40 2.57e-3 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 107 N/A INTRINSIC
ZnF_C3H1 178 205 1.77e-6 SMART
ZnF_C3H1 215 239 2.91e-2 SMART
low complexity region 248 273 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000192807
AA Change: E278*
SMART Domains Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: E278*

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
ZnF_C3H1 86 113 7.5e-9 SMART
ZnF_C3H1 123 147 1.3e-4 SMART
low complexity region 156 181 N/A INTRINSIC
low complexity region 246 269 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193175
Predicted Effect probably null
Transcript: ENSMUST00000193517
AA Change: E376*
SMART Domains Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: E376*

DomainStartEndE-ValueType
ZnF_C3H1 14 40 1.1e-5 SMART
ZnF_C3H1 47 72 6.1e-4 SMART
low complexity region 89 107 N/A INTRINSIC
ZnF_C3H1 178 205 7.5e-9 SMART
ZnF_C3H1 215 239 1.3e-4 SMART
low complexity region 248 272 N/A INTRINSIC
low complexity region 344 367 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000193518
AA Change: E291*
SMART Domains Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: E291*

DomainStartEndE-ValueType
ZnF_C3H1 81 108 7.5e-9 SMART
ZnF_C3H1 118 142 1.3e-4 SMART
low complexity region 151 175 N/A INTRINSIC
low complexity region 259 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193647
SMART Domains Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
ZnF_C3H1 86 113 7.5e-9 SMART
ZnF_C3H1 123 147 1.3e-4 SMART
low complexity region 156 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194069
AA Change: R344L

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: R344L

DomainStartEndE-ValueType
ZnF_C3H1 14 40 1.1e-5 SMART
ZnF_C3H1 47 72 6.1e-4 SMART
low complexity region 89 107 N/A INTRINSIC
ZnF_C3H1 178 205 7.5e-9 SMART
ZnF_C3H1 215 239 1.3e-4 SMART
low complexity region 248 272 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000194201
AA Change: E291*
SMART Domains Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: E291*

DomainStartEndE-ValueType
ZnF_C3H1 14 40 2.57e-3 SMART
ZnF_C3H1 47 72 1.43e-1 SMART
low complexity region 89 107 N/A INTRINSIC
ZnF_C3H1 111 138 1.23e-5 SMART
ZnF_C3H1 148 172 2.91e-2 SMART
low complexity region 181 206 N/A INTRINSIC
low complexity region 259 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195817
AA Change: R206L

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: R206L

DomainStartEndE-ValueType
ZnF_C3H1 81 108 7.5e-9 SMART
ZnF_C3H1 118 142 1.3e-4 SMART
low complexity region 151 180 N/A INTRINSIC
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 encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is 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. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,459,749 probably null Het
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Armcx5 T C X: 135,746,828 F551S probably damaging Het
Ccrl2 T C 9: 111,055,879 K184E probably benign Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ptgr2 T C 12: 84,313,948 S331P probably damaging Het
Ranbp9 T C 13: 43,436,146 probably null Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* probably null Het
Other mutations in Mbnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Mbnl1 APN 3 60613519 missense possibly damaging 0.45
IGL02970:Mbnl1 APN 3 60613423 missense probably damaging 1.00
R1662:Mbnl1 UTSW 3 60625172 missense probably damaging 1.00
R4062:Mbnl1 UTSW 3 60603755 missense probably damaging 1.00
R4577:Mbnl1 UTSW 3 60529778 missense probably damaging 1.00
R4960:Mbnl1 UTSW 3 60595696 start codon destroyed probably null
R6184:Mbnl1 UTSW 3 60615744 missense probably damaging 0.99
R6229:Mbnl1 UTSW 3 60621328 intron probably null
R7219:Mbnl1 UTSW 3 60603823 missense probably benign 0.32
R7397:Mbnl1 UTSW 3 60615630 missense probably benign 0.04
R7808:Mbnl1 UTSW 3 60614821 intron probably null
Posted On2015-04-16