Incidental Mutation 'IGL02970:Mbnl1'
ID365778
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: 0.958) question?
Stock #IGL02970
Quality Score
Status
Chromosome3
Chromosomal Location60472830-60629750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60613423 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 139 (F139S)
Ref Sequence ENSEMBL: ENSMUSP00000141576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193517] [ENSMUST00000193518] [ENSMUST00000193647] [ENSMUST00000194069] [ENSMUST00000194201] [ENSMUST00000195817]
Predicted Effect probably damaging
Transcript: ENSMUST00000099087
AA Change: F236S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: F236S

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 damaging
Transcript: ENSMUST00000191747
AA Change: F144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: F144S

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 noncoding transcript
Transcript: ENSMUST00000192394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192520
Predicted Effect possibly damaging
Transcript: ENSMUST00000192607
AA Change: F236S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: F236S

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 benign
Transcript: ENSMUST00000192757
Predicted Effect probably damaging
Transcript: ENSMUST00000192807
AA Change: F144S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: F144S

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 probably damaging
Transcript: ENSMUST00000193517
AA Change: F236S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: F236S

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 damaging
Transcript: ENSMUST00000193518
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: F139S

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 damaging
Transcript: ENSMUST00000193647
AA Change: F144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
AA Change: F144S

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 damaging
Transcript: ENSMUST00000194069
AA Change: F236S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: F236S

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 damaging
Transcript: ENSMUST00000194201
AA Change: F169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: F169S

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 damaging
Transcript: ENSMUST00000195817
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: F139S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Mbnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Mbnl1 APN 3 60613519 missense possibly damaging 0.45
IGL02382:Mbnl1 APN 3 60625142 nonsense probably null
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
Posted On2015-12-18