Incidental Mutation 'IGL02303:Mbnl2'
ID287454
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: 0.357) question?
Stock #IGL02303
Quality Score
Status
Chromosome14
Chromosomal Location120275669-120431697 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120404647 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 341 (M341T)
Ref Sequence ENSEMBL: ENSMUSP00000154559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]
Predicted Effect probably benign
Transcript: ENSMUST00000088419
AA Change: M341T

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: M341T

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 benign
Transcript: ENSMUST00000167459
AA Change: M353T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: M353T

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 benign
Transcript: ENSMUST00000226800
AA Change: M323T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000227012
AA Change: M323T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227153
Predicted Effect probably benign
Transcript: ENSMUST00000227594
AA Change: M341T

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000228115
AA Change: M246T

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging Het
Other mutations in Mbnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mbnl2 APN 14 120325270 missense probably damaging 1.00
IGL03225:Mbnl2 APN 14 120385463 missense probably benign 0.04
IGL03268:Mbnl2 APN 14 120379157 missense probably damaging 1.00
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
R7991:Mbnl2 UTSW 14 120403323 splice site probably null
X0018:Mbnl2 UTSW 14 120404689 missense probably damaging 1.00
Z1176:Mbnl2 UTSW 14 120403359 missense probably benign 0.00
Posted On2015-04-16