Incidental Mutation 'R4577:Mbnl1'
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ID342528
Institutional Source Beutler Lab
Gene Symbol Mbnl1
Ensembl Gene ENSMUSG00000027763
Gene Namemuscleblind like splicing factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.942) question?
Stock #R4577 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location60472830-60629750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60529778 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 50 (V50I)
Ref Sequence ENSEMBL: ENSMUSP00000141954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193517] [ENSMUST00000193647] [ENSMUST00000194069] [ENSMUST00000194201] [ENSMUST00000195001] [ENSMUST00000195077] [ENSMUST00000195724]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099087
AA Change: V50I

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: V50I

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 benign
Transcript: ENSMUST00000191747
SMART Domains Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763

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: ENSMUST00000192086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192394
Predicted Effect probably damaging
Transcript: ENSMUST00000192607
AA Change: V50I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: V50I

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 noncoding transcript
Transcript: ENSMUST00000192623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192637
Predicted Effect probably benign
Transcript: ENSMUST00000192807
SMART Domains Protein: ENSMUSP00000141915
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 156 181 N/A INTRINSIC
low complexity region 246 269 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193130
Predicted Effect probably benign
Transcript: ENSMUST00000193517
AA Change: V50I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: V50I

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 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 noncoding transcript
Transcript: ENSMUST00000194003
Predicted Effect probably benign
Transcript: ENSMUST00000194069
AA Change: V50I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: V50I

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: V50I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: V50I

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: ENSMUST00000195001
Predicted Effect possibly damaging
Transcript: ENSMUST00000195077
AA Change: V50I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142074
Gene: ENSMUSG00000027763
AA Change: V50I

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
Predicted Effect probably benign
Transcript: ENSMUST00000195724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195839
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A G 7: 139,978,130 I51T probably damaging Het
Abca1 C A 4: 53,062,568 C1429F possibly damaging Het
Acacb A G 5: 114,226,831 E1524G probably damaging Het
Ankrd50 A G 3: 38,455,941 V759A probably damaging Het
Ano9 T C 7: 141,104,138 Q538R probably damaging Het
Bnip2 A G 9: 69,997,162 D67G probably benign Het
Cacna1e A T 1: 154,402,027 S2060T possibly damaging Het
Cand2 G A 6: 115,791,259 C455Y probably damaging Het
Cdh16 T C 8: 104,618,559 D366G probably damaging Het
Cep170b A G 12: 112,744,718 R595G probably damaging Het
Chaf1a G A 17: 56,065,184 R784Q probably damaging Het
Clca4a C A 3: 144,954,969 S698I probably damaging Het
Dnah5 A C 15: 28,289,250 Y1195S probably benign Het
Dysf T C 6: 84,137,326 I1229T probably damaging Het
Eef2 GCCC GCCCC 10: 81,178,767 probably null Het
Ep300 T C 15: 81,649,009 S1756P unknown Het
Ep300 T A 15: 81,611,410 probably benign Het
F3 A G 3: 121,734,114 I254V probably benign Het
Fam166a T C 2: 25,220,288 S71P probably benign Het
Frmd4a C A 2: 4,603,679 A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 F270S probably damaging Het
Galnt3 T C 2: 66,097,859 Y231C probably benign Het
Gm10220 A C 5: 26,117,871 I181S probably benign Het
Gm13178 A C 4: 144,703,753 I222S probably damaging Het
Gnb5 G A 9: 75,343,541 V316I possibly damaging Het
Gys2 A G 6: 142,454,510 F325S possibly damaging Het
Hmgn2 G A 4: 133,967,357 probably benign Het
Hsph1 A G 5: 149,618,843 V705A probably benign Het
Ighg2b T C 12: 113,306,892 E206G unknown Het
Iqub A T 6: 24,501,291 I220N probably damaging Het
Jmjd1c A G 10: 67,249,750 T2259A probably damaging Het
Kcnq3 T C 15: 66,286,214 K4R unknown Het
Klk12 A G 7: 43,773,243 D198G probably damaging Het
L3mbtl2 G A 15: 81,686,285 E655K probably benign Het
Lrp1b C T 2: 40,821,719 C3163Y probably damaging Het
Map3k19 T A 1: 127,822,813 R934* probably null Het
Map4 A G 9: 110,081,421 T1061A possibly damaging Het
Med15 G A 16: 17,674,515 Q132* probably null Het
Mef2a T C 7: 67,240,439 N131S probably benign Het
Mtmr3 G C 11: 4,497,375 L361V probably damaging Het
Myo5a A G 9: 75,217,545 E1792G probably damaging Het
Nup88 C A 11: 70,969,717 A55S probably damaging Het
Olfr1252 T C 2: 89,722,043 K23E possibly damaging Het
Olfr374 T A 8: 72,110,323 Y252* probably null Het
Pacs1 G T 19: 5,143,833 S556* probably null Het
Parp4 A G 14: 56,590,410 E206G probably benign Het
Paxbp1 T G 16: 91,015,154 K889N probably damaging Het
Pcdhga2 G A 18: 37,669,249 A49T possibly damaging Het
Pcsk6 T A 7: 65,959,266 L292* probably null Het
Plb1 C T 5: 32,247,557 Q20* probably null Het
Plec C A 15: 76,184,069 Q1142H possibly damaging Het
Pnpla2 T C 7: 141,457,344 S87P probably damaging Het
Prss28 T C 17: 25,310,105 V140A probably damaging Het
Rad17 A T 13: 100,633,278 S258T probably damaging Het
Rnf111 A T 9: 70,429,584 C932* probably null Het
Sdc2 T C 15: 33,017,132 Y31H probably damaging Het
Selenoh T C 2: 84,670,331 E55G possibly damaging Het
Serpina3k T G 12: 104,344,192 V327G possibly damaging Het
Setd1b A G 5: 123,148,616 E575G unknown Het
Slco1a4 A T 6: 141,819,540 S325R probably damaging Het
Smtnl1 C A 2: 84,818,443 V156L possibly damaging Het
Speg A G 1: 75,415,395 D1607G probably damaging Het
Tctex1d4 A G 4: 117,128,615 T212A possibly damaging Het
Tmem101 T A 11: 102,155,837 M69L possibly damaging Het
Treh G A 9: 44,685,911 M542I probably benign Het
Trim30b T C 7: 104,357,331 Y106C possibly damaging Het
Ttc6 T C 12: 57,576,655 I280T probably benign Het
Ubtfl1 A G 9: 18,409,493 T106A probably damaging Het
Wdr27 T C 17: 14,903,462 H583R probably benign Het
Xirp2 C T 2: 67,513,897 P2161S probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGGACATTTTCACAGTTATCTCAC -3'
(R):5'- GAGATCTAGTTGAGAGCCCCAG -3'

Sequencing Primer
(F):5'- CACACTCTGAGTTTTATCAGTTCC -3'
(R):5'- CAGGCCAGCCTCAGGAG -3'
Posted On2015-09-24