Incidental Mutation 'IGL01562:Crym'
ID 90873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crym
Ensembl Gene ENSMUSG00000030905
Gene Name crystallin, mu
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01562
Quality Score
Status
Chromosome 7
Chromosomal Location 119785603-119801212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119794622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000033198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033198]
AlphaFold O54983
PDB Structure Crystal structure of the apo form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Crystal structure of the NADPH form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Cristal structure of the NADPH-T3 form of mouse Mu-crystallin. [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000033198
AA Change: V199A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033198
Gene: ENSMUSG00000030905
AA Change: V199A

DomainStartEndE-ValueType
Pfam:OCD_Mu_crystall 3 313 7.1e-113 PFAM
Pfam:Shikimate_DH 124 227 7.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134067
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
PHENOTYPE: At the euthyroid state, homozygotes display a normal growth curve, heart rate and hearing ability but have significantly reduced serum concentrations of triiodothyronine (T3) and thyroxine (T4). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dsel T C 1: 111,788,049 (GRCm39) T829A probably benign Het
Frg1 T C 8: 41,869,946 (GRCm39) K18R possibly damaging Het
H2-M10.5 A G 17: 37,084,668 (GRCm39) S131G possibly damaging Het
Ift172 A T 5: 31,424,591 (GRCm39) I701N probably damaging Het
Il5ra T C 6: 106,708,865 (GRCm39) I292V probably benign Het
Nup98 A G 7: 101,835,125 (GRCm39) S243P probably damaging Het
Pramel16 A G 4: 143,677,435 (GRCm39) L48S probably damaging Het
Ptgis T C 2: 167,048,750 (GRCm39) Y422C probably damaging Het
Senp2 T C 16: 21,828,437 (GRCm39) C16R probably damaging Het
St7 T A 6: 17,922,034 (GRCm39) L411Q probably damaging Het
Tanc2 A T 11: 105,670,895 (GRCm39) Y164F probably benign Het
Ttc23l T C 15: 10,551,476 (GRCm39) probably benign Het
Vmn2r66 G T 7: 84,656,495 (GRCm39) Q174K probably benign Het
Wrap73 A G 4: 154,229,794 (GRCm39) E55G possibly damaging Het
Other mutations in Crym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Crym APN 7 119,798,536 (GRCm39) splice site probably null
R0393:Crym UTSW 7 119,788,972 (GRCm39) missense probably benign 0.00
R1538:Crym UTSW 7 119,796,938 (GRCm39) missense probably benign 0.05
R2508:Crym UTSW 7 119,801,050 (GRCm39) missense probably benign 0.08
R3836:Crym UTSW 7 119,800,439 (GRCm39) missense probably benign 0.03
R4328:Crym UTSW 7 119,794,562 (GRCm39) missense probably damaging 1.00
R4723:Crym UTSW 7 119,800,298 (GRCm39) critical splice donor site probably null
R5046:Crym UTSW 7 119,794,667 (GRCm39) missense possibly damaging 0.71
R5122:Crym UTSW 7 119,794,718 (GRCm39) missense probably benign 0.00
R5266:Crym UTSW 7 119,798,517 (GRCm39) missense probably benign 0.00
R5427:Crym UTSW 7 119,798,445 (GRCm39) unclassified probably benign
R5567:Crym UTSW 7 119,801,116 (GRCm39) missense probably benign 0.00
R5570:Crym UTSW 7 119,801,116 (GRCm39) missense probably benign 0.00
R5704:Crym UTSW 7 119,801,163 (GRCm39) splice site probably null
R6835:Crym UTSW 7 119,785,868 (GRCm39) missense probably benign
R7274:Crym UTSW 7 119,789,742 (GRCm39) missense probably benign 0.03
R7536:Crym UTSW 7 119,800,331 (GRCm39) missense probably damaging 1.00
R8062:Crym UTSW 7 119,800,391 (GRCm39) missense probably damaging 1.00
R8281:Crym UTSW 7 119,801,250 (GRCm39) unclassified probably benign
R8940:Crym UTSW 7 119,794,703 (GRCm39) missense probably benign 0.16
R9015:Crym UTSW 7 119,801,090 (GRCm39) missense probably benign
R9324:Crym UTSW 7 119,789,005 (GRCm39) missense probably damaging 0.99
R9740:Crym UTSW 7 119,794,661 (GRCm39) missense probably benign 0.17
Posted On 2013-12-09