Incidental Mutation 'R0211:Cryba1'
ID 66417
Institutional Source Beutler Lab
Gene Symbol Cryba1
Ensembl Gene ENSMUSG00000000724
Gene Name crystallin, beta A1
Synonyms Cryb, BA3/A1
MMRRC Submission 038462-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0211 (G1)
Quality Score 152
Status Not validated
Chromosome 11
Chromosomal Location 77609441-77616109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77609693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 179 (Y179F)
Ref Sequence ENSEMBL: ENSMUSP00000077693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000181023]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078623
AA Change: Y179F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077693
Gene: ENSMUSG00000000724
AA Change: Y179F

DomainStartEndE-ValueType
XTALbg 32 116 1.27e-43 SMART
XTALbg 125 213 3.49e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124178
Predicted Effect probably benign
Transcript: ENSMUST00000181023
SMART Domains Protein: ENSMUSP00000137922
Gene: ENSMUSG00000037857

DomainStartEndE-ValueType
low complexity region 7 61 N/A INTRINSIC
Pfam:NUFIP2 89 681 7e-293 PFAM
Coding Region Coverage
  • 1x: 96.9%
  • 3x: 92.1%
  • 10x: 58.4%
  • 20x: 15.8%
Validation Efficiency
MGI Phenotype FUNCTION: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a knock-out allele exhibit microphthalmia, congenital nuclear cataracts, persistent hyaloid artery, and lens defects including impaired lysosomal cargo clearance, increased calcium level, and cytoskeletal defects. Homozygotes for an ENU allele show microphthalmia and total cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N probably damaging Het
Other mutations in Cryba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02964:Cryba1 APN 11 77,610,207 (GRCm39) intron probably benign
R0211:Cryba1 UTSW 11 77,609,693 (GRCm39) missense probably damaging 0.99
R0724:Cryba1 UTSW 11 77,610,283 (GRCm39) missense probably damaging 1.00
R2357:Cryba1 UTSW 11 77,613,427 (GRCm39) intron probably benign
R2416:Cryba1 UTSW 11 77,611,726 (GRCm39) missense probably damaging 1.00
R6866:Cryba1 UTSW 11 77,610,355 (GRCm39) missense probably benign 0.05
R7624:Cryba1 UTSW 11 77,613,543 (GRCm39) missense probably damaging 1.00
R7805:Cryba1 UTSW 11 77,613,434 (GRCm39) critical splice donor site probably null
R7990:Cryba1 UTSW 11 77,614,411 (GRCm39) missense possibly damaging 0.87
Predicted Primers
Posted On 2013-08-19