Incidental Mutation 'IGL01461:Cryaa'
ID87983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryaa
Ensembl Gene ENSMUSG00000024041
Gene Namecrystallin, alpha A
SynonymsCrya-1, DAcry-1, Acry-1, alpha-A-crystallin, Crya1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01461
Quality Score
Status
Chromosome17
Chromosomal Location31677933-31681724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31681026 bp
ZygosityHeterozygous
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]
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: 77,281,095 F767S probably benign Het
2810474O19Rik T C 6: 149,331,515 probably benign Het
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Apob A T 12: 8,001,884 M1137L probably benign Het
Brd9 C T 13: 73,951,598 Q445* probably null Het
Cdh23 T C 10: 60,409,147 T990A possibly damaging Het
Cenpf A G 1: 189,657,096 L1513S probably damaging Het
Col27a1 A G 4: 63,224,243 K56R probably damaging Het
Dtl T C 1: 191,546,617 T378A possibly damaging Het
E330020D12Rik A G 1: 153,408,359 noncoding transcript Het
F7 A G 8: 13,032,245 D145G possibly damaging Het
Flvcr2 A G 12: 85,803,131 probably benign Het
Hltf A T 3: 20,099,939 K680* probably null Het
Ing1 T G 8: 11,561,453 F22V probably benign Het
Ipo5 A G 14: 120,928,533 D330G probably damaging Het
Itgax G T 7: 128,135,018 D321Y probably damaging Het
Kdelc1 T C 1: 44,110,934 Q365R probably damaging Het
Kel A C 6: 41,701,911 probably null Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mast4 T A 13: 102,754,068 M925L probably damaging Het
Miga1 C T 3: 152,335,297 E78K probably damaging Het
Olfr1204 G T 2: 88,852,325 C125F probably damaging Het
Olfr58 T A 9: 19,783,949 probably null Het
Pkdrej T C 15: 85,820,374 I454V possibly damaging Het
Prpf6 C A 2: 181,631,511 T283N probably benign Het
R3hdm1 A G 1: 128,178,906 H197R probably damaging Het
Smpd4 A C 16: 17,621,506 Q7P probably damaging Het
Vmn2r84 A T 10: 130,391,225 I248K possibly damaging Het
Other mutations in Cryaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
L1n UTSW 17 31681025 missense probably damaging 1.00
R1553:Cryaa UTSW 17 31679559 missense probably damaging 1.00
R2061:Cryaa UTSW 17 31681055 missense probably benign 0.00
R4612:Cryaa UTSW 17 31678474 missense probably benign 0.04
R6843:Cryaa UTSW 17 31678173 missense possibly damaging 0.89
Posted On2013-11-18