Incidental Mutation 'IGL02229:Mbnl3'
ID 285428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbnl3
Ensembl Gene ENSMUSG00000036109
Gene Name muscleblind like splicing factor 3
Synonyms CHCR, E430034C16Rik, A530038J18Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02229
Quality Score
Status
Chromosome X
Chromosomal Location 50206146-50295409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50228218 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R003
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: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Mbnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Mbnl3 APN X 50,253,425 (GRCm39) missense probably damaging 1.00
R7747:Mbnl3 UTSW X 50,219,211 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16