Incidental Mutation 'IGL02229:Mbnl3'
ID285428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbnl3
Ensembl Gene ENSMUSG00000036109
Gene Namemuscleblind like splicing factor 3
SynonymsCHCR, E430034C16Rik, A530038J18Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02229
Quality Score
Status
ChromosomeX
Chromosomal Location51117269-51206532 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51139341 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 69 (Y69N)
Ref Sequence ENSEMBL: ENSMUSP00000138520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041495] [ENSMUST00000114875] [ENSMUST00000114876] [ENSMUST00000136404]
Predicted Effect probably benign
Transcript: ENSMUST00000041495
SMART Domains Protein: ENSMUSP00000046036
Gene: ENSMUSG00000036109

DomainStartEndE-ValueType
ZnF_C3H1 78 105 4.37e-6 SMART
ZnF_C3H1 114 139 1.1e-2 SMART
low complexity region 218 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114875
SMART Domains Protein: ENSMUSP00000110525
Gene: ENSMUSG00000036109

DomainStartEndE-ValueType
ZnF_C3H1 78 105 4.37e-6 SMART
ZnF_C3H1 114 139 1.1e-2 SMART
low complexity region 218 231 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114876
AA Change: Y69N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110526
Gene: ENSMUSG00000036109
AA Change: Y69N

DomainStartEndE-ValueType
ZnF_C3H1 15 41 4.01e-5 SMART
ZnF_C3H1 48 73 4.4e-2 SMART
ZnF_C3H1 174 201 4.37e-6 SMART
ZnF_C3H1 210 235 1.1e-2 SMART
low complexity region 314 327 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136404
AA Change: Y69N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138520
Gene: ENSMUSG00000036109
AA Change: Y69N

DomainStartEndE-ValueType
ZnF_C3H1 15 41 4.01e-5 SMART
ZnF_C3H1 48 73 4.4e-2 SMART
ZnF_C3H1 174 201 4.37e-6 SMART
ZnF_C3H1 210 235 1.1e-2 SMART
low complexity region 291 304 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148116
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-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for an allele lacking exon 2 exhibit impaired muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Tmem242 A T 17: 5,411,407 S129T probably benign Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Mbnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Mbnl3 APN X 51164548 missense probably damaging 1.00
Posted On2015-04-16