Incidental Mutation 'IGL02964:Cryba1'
ID 365506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryba1
Ensembl Gene ENSMUSG00000000724
Gene Name crystallin, beta A1
Synonyms Cryb, BA3/A1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02964
Quality Score
Status
Chromosome 11
Chromosomal Location 77609441-77616109 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 77610207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000181023]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078623
SMART Domains Protein: ENSMUSP00000077693
Gene: ENSMUSG00000000724

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,242,636 (GRCm39) I1364V possibly damaging Het
Adamts19 T A 18: 59,122,037 (GRCm39) I813K probably damaging Het
Adamtsl1 G T 4: 86,342,594 (GRCm39) C1703F probably damaging Het
Atp2b4 T A 1: 133,658,303 (GRCm39) T536S probably damaging Het
Capg T A 6: 72,539,827 (GRCm39) I340N probably damaging Het
Casc3 T A 11: 98,719,749 (GRCm39) M567K probably damaging Het
Chmp1a T C 8: 123,934,806 (GRCm39) E50G probably damaging Het
Dnah8 T A 17: 30,965,735 (GRCm39) Y2356N probably damaging Het
Ercc6 T G 14: 32,292,060 (GRCm39) S1141R probably benign Het
Exd2 T A 12: 80,527,302 (GRCm39) V165D probably damaging Het
Fbln1 A T 15: 85,115,663 (GRCm39) E233V probably damaging Het
Ftsj3 T C 11: 106,143,163 (GRCm39) K384E probably damaging Het
Ggt5 A G 10: 75,439,962 (GRCm39) I188V probably benign Het
Gm42742 A T 7: 126,616,018 (GRCm39) S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 (GRCm39) D449E probably damaging Het
Igfbp7 C T 5: 77,499,188 (GRCm39) S239N possibly damaging Het
Klf11 C T 12: 24,705,626 (GRCm39) A360V probably damaging Het
Kmt2e T A 5: 23,672,098 (GRCm39) probably benign Het
Magea8 A T X: 153,769,678 (GRCm39) C144S probably damaging Het
Med4 A G 14: 73,755,361 (GRCm39) Q223R probably damaging Het
Mmd2 G T 5: 142,555,232 (GRCm39) F153L probably damaging Het
Nav3 C A 10: 109,572,814 (GRCm39) R1615L probably damaging Het
Nisch A G 14: 30,902,769 (GRCm39) probably benign Het
Nr1i3 A T 1: 171,041,964 (GRCm39) Y16F probably benign Het
Or5w1 C A 2: 87,487,058 (GRCm39) C69F probably damaging Het
Or7e169 G A 9: 19,757,550 (GRCm39) R122* probably null Het
Or7g16 A G 9: 18,727,024 (GRCm39) C189R probably damaging Het
Or8g34 A G 9: 39,373,077 (GRCm39) T117A possibly damaging Het
Ppil6 C A 10: 41,383,479 (GRCm39) H252N probably benign Het
Ppp6r2 C T 15: 89,143,378 (GRCm39) P175L probably damaging Het
Psme4 T A 11: 30,741,095 (GRCm39) Y90* probably null Het
Rbm20 C A 19: 53,802,133 (GRCm39) L214I probably benign Het
Rhox2f T C X: 36,753,334 (GRCm39) V24A probably benign Het
Scnm1 T C 3: 95,040,348 (GRCm39) K96E probably benign Het
Sec16a A C 2: 26,309,735 (GRCm39) D2090E probably benign Het
Smg6 T C 11: 74,821,576 (GRCm39) probably null Het
Snx2 T C 18: 53,327,630 (GRCm39) S119P probably benign Het
Stam A G 2: 14,120,779 (GRCm39) probably benign Het
Sult2b1 T A 7: 45,384,698 (GRCm39) E126V probably benign Het
Tor1aip1 T C 1: 155,911,590 (GRCm39) E131G probably damaging Het
Ttn C T 2: 76,619,040 (GRCm39) C14367Y probably damaging Het
Ubr4 T C 4: 139,135,131 (GRCm39) F821S possibly damaging Het
Vmn1r32 T C 6: 66,529,922 (GRCm39) N285D probably benign Het
Vmn2r23 T C 6: 123,718,741 (GRCm39) L698P possibly damaging Het
Wnt8a T A 18: 34,675,474 (GRCm39) L18Q possibly damaging Het
Zfp747 T C 7: 126,973,666 (GRCm39) E168G probably benign Het
Other mutations in Cryba1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0211:Cryba1 UTSW 11 77,609,693 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-12-18