Incidental Mutation 'IGL03225:Mbnl2'
ID 413765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbnl2
Ensembl Gene ENSMUSG00000022139
Gene Name muscleblind like splicing factor 2
Synonyms 1110002M11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # IGL03225
Quality Score
Status
Chromosome 14
Chromosomal Location 120513081-120669109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120622875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 138 (T138A)
Ref Sequence ENSEMBL: ENSMUSP00000126186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]
AlphaFold Q8C181
Predicted Effect probably benign
Transcript: ENSMUST00000088419
AA Change: T138A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: T138A

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: T138A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: T138A

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 noncoding transcript
Transcript: ENSMUST00000181685
Predicted Effect probably benign
Transcript: ENSMUST00000226800
AA Change: T138A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000227012
AA Change: T138A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227484
Predicted Effect probably benign
Transcript: ENSMUST00000227594
AA Change: T138A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect unknown
Transcript: ENSMUST00000228115
AA Change: T49A
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,668 (GRCm39) K234R probably benign Het
Adam21 T C 12: 81,606,043 (GRCm39) E573G probably benign Het
Aox4 A T 1: 58,286,386 (GRCm39) I673F possibly damaging Het
Arfgef1 A T 1: 10,224,543 (GRCm39) I1431N probably damaging Het
Cask A G X: 13,531,760 (GRCm39) M103V possibly damaging Het
Clba1 T C 12: 112,779,211 (GRCm39) Y283H probably damaging Het
Fam83h T C 15: 75,875,150 (GRCm39) E729G probably damaging Het
Gnb4 T C 3: 32,641,881 (GRCm39) T249A probably damaging Het
Gpr12 A G 5: 146,520,761 (GRCm39) S54P probably damaging Het
Krt20 A G 11: 99,322,756 (GRCm39) V293A probably damaging Het
Lonrf1 A G 8: 36,689,855 (GRCm39) V706A probably damaging Het
Lrrc58 T G 16: 37,701,632 (GRCm39) C303W probably damaging Het
Mss51 G A 14: 20,537,205 (GRCm39) R88* probably null Het
Nup214 T A 2: 31,924,423 (GRCm39) S146T probably damaging Het
Otop2 G A 11: 115,220,633 (GRCm39) R491H probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Sgtb T C 13: 104,268,453 (GRCm39) L163P probably damaging Het
Spsb3 T C 17: 25,110,045 (GRCm39) I365T possibly damaging Het
Tmem273 A G 14: 32,527,133 (GRCm39) I33M probably damaging Het
Trio T C 15: 27,902,781 (GRCm39) I227V probably benign Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Wasf2 A G 4: 132,903,857 (GRCm39) T22A probably benign Het
Other mutations in Mbnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Mbnl2 APN 14 120,562,682 (GRCm39) missense probably damaging 1.00
IGL02303:Mbnl2 APN 14 120,642,059 (GRCm39) missense probably benign 0.28
IGL03268:Mbnl2 APN 14 120,616,569 (GRCm39) missense probably damaging 1.00
R0193:Mbnl2 UTSW 14 120,616,649 (GRCm39) missense possibly damaging 0.94
R0423:Mbnl2 UTSW 14 120,562,736 (GRCm39) missense probably damaging 1.00
R0470:Mbnl2 UTSW 14 120,642,062 (GRCm39) missense probably damaging 1.00
R1749:Mbnl2 UTSW 14 120,626,462 (GRCm39) missense probably damaging 1.00
R4041:Mbnl2 UTSW 14 120,626,486 (GRCm39) missense probably damaging 1.00
R6190:Mbnl2 UTSW 14 120,622,833 (GRCm39) missense probably benign 0.01
R7346:Mbnl2 UTSW 14 120,616,694 (GRCm39) missense probably benign 0.00
R8928:Mbnl2 UTSW 14 120,633,974 (GRCm39) missense probably benign
R9036:Mbnl2 UTSW 14 120,562,712 (GRCm39) missense probably benign 0.38
R9302:Mbnl2 UTSW 14 120,622,950 (GRCm39) missense probably benign 0.00
X0018:Mbnl2 UTSW 14 120,642,101 (GRCm39) missense probably damaging 1.00
Z1176:Mbnl2 UTSW 14 120,640,771 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02