Incidental Mutation 'IGL01936:Mbnl1'
ID180699
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: 0.979) question?
Stock #IGL01936
Quality Score
Status
Chromosome3
Chromosomal Location60472830-60629750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60613519 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 268 (M268K)
Ref Sequence ENSEMBL: ENSMUSP00000141474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193517] [ENSMUST00000193518] [ENSMUST00000193647] [ENSMUST00000194069] [ENSMUST00000194201] [ENSMUST00000195817]
Predicted Effect probably benign
Transcript: ENSMUST00000099087
AA Change: M268K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: M268K

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
AA Change: M176K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: M176K

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 probably benign
Transcript: ENSMUST00000192607
AA Change: M268K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: M268K

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 benign
Transcript: ENSMUST00000192807
AA Change: M176K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: M176K

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: M268K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: M268K

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: ENSMUST00000193518
AA Change: M171K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: M171K

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
AA Change: M176K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
AA Change: M176K

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 possibly damaging
Transcript: ENSMUST00000194069
AA Change: M268K

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: M268K

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 benign
Transcript: ENSMUST00000194201
AA Change: M201K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: M201K

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: M171K

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: M171K

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
Asgr2 A T 11: 70,098,051 probably null Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Ctcf T C 8: 105,670,232 V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Olfr54 A G 11: 51,027,335 N111S probably benign Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Tmprss4 A G 9: 45,179,420 V187A probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably damaging Het
Other mutations in Mbnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2014-05-07