Incidental Mutation 'IGL01461:Cryaa'
ID 87983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryaa
Ensembl Gene ENSMUSG00000024041
Gene Name crystallin, alpha A
Synonyms Crya1, Crya-1, alpha-A-crystallin, DAcry-1, Acry-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01461
Quality Score
Status
Chromosome 17
Chromosomal Location 31896905-31900704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31900000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 118 (Y118C)
Ref Sequence ENSEMBL: ENSMUSP00000154747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019192] [ENSMUST00000228716]
AlphaFold P24622
Predicted Effect probably damaging
Transcript: ENSMUST00000019192
AA Change: Y141C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019192
Gene: ENSMUSG00000024041
AA Change: Y141C

DomainStartEndE-ValueType
Pfam:Crystallin 1 54 5.6e-29 PFAM
Pfam:HSP20 86 185 4.3e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226183
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228305
Predicted Effect probably damaging
Transcript: ENSMUST00000228716
AA Change: Y118C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes subunit a, one of two subunits of alpha-crystallin, which is a high molecular weight, soluble aggregate and is a member of the small heat shock protein (sHSP) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. It acts as a molecular chaperone and is the major protein in the eye lens, maintaining the transparency and refractive index of the lens. In mouse, deficiency in this gene is associated with smaller lenses and eyes and with increasing lens opacity with age. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a targeted null mutation have small lenses that develop progressive opacity beginning in the nucleus. Homozygotes for spontaneous or ENU-induced mutations have normal sized lenses with a white nuclear cataract by weaning age that expands progressively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,429,214 (GRCm39) F767S probably benign Het
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Apob A T 12: 8,051,884 (GRCm39) M1137L probably benign Het
Brd9 C T 13: 74,099,717 (GRCm39) Q445* probably null Het
Cdh23 T C 10: 60,244,926 (GRCm39) T990A possibly damaging Het
Cenpf A G 1: 189,389,293 (GRCm39) L1513S probably damaging Het
Col27a1 A G 4: 63,142,480 (GRCm39) K56R probably damaging Het
Dtl T C 1: 191,278,729 (GRCm39) T378A possibly damaging Het
E330020D12Rik A G 1: 153,284,105 (GRCm39) noncoding transcript Het
F7 A G 8: 13,082,245 (GRCm39) D145G possibly damaging Het
Flvcr2 A G 12: 85,849,905 (GRCm39) probably benign Het
Hltf A T 3: 20,154,103 (GRCm39) K680* probably null Het
Ing1 T G 8: 11,611,453 (GRCm39) F22V probably benign Het
Ipo5 A G 14: 121,165,945 (GRCm39) D330G probably damaging Het
Itgax G T 7: 127,734,190 (GRCm39) D321Y probably damaging Het
Kel A C 6: 41,678,845 (GRCm39) probably null Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mast4 T A 13: 102,890,576 (GRCm39) M925L probably damaging Het
Miga1 C T 3: 152,040,934 (GRCm39) E78K probably damaging Het
Or4c106 G T 2: 88,682,669 (GRCm39) C125F probably damaging Het
Or7e165 T A 9: 19,695,245 (GRCm39) probably null Het
Pkdrej T C 15: 85,704,575 (GRCm39) I454V possibly damaging Het
Poglut2 T C 1: 44,150,094 (GRCm39) Q365R probably damaging Het
Prpf6 C A 2: 181,273,304 (GRCm39) T283N probably benign Het
R3hdm1 A G 1: 128,106,643 (GRCm39) H197R probably damaging Het
Resf1 T C 6: 149,233,013 (GRCm39) probably benign Het
Smpd4 A C 16: 17,439,370 (GRCm39) Q7P probably damaging Het
Vmn2r84 A T 10: 130,227,094 (GRCm39) I248K possibly damaging Het
Other mutations in Cryaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
L1n UTSW 17 31,899,999 (GRCm39) missense probably damaging 1.00
R1553:Cryaa UTSW 17 31,898,533 (GRCm39) missense probably damaging 1.00
R2061:Cryaa UTSW 17 31,900,029 (GRCm39) missense probably benign 0.00
R4612:Cryaa UTSW 17 31,897,448 (GRCm39) missense probably benign 0.04
R6843:Cryaa UTSW 17 31,897,147 (GRCm39) missense possibly damaging 0.89
R9205:Cryaa UTSW 17 31,898,642 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18