Incidental Mutation 'R7805:Cryba1'
ID 600731
Institutional Source Beutler Lab
Gene Symbol Cryba1
Ensembl Gene ENSMUSG00000000724
Gene Name crystallin, beta A1
Synonyms Cryb, BA3/A1
MMRRC Submission 045860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7805 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77609441-77616109 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 77613434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078623] [ENSMUST00000078623] [ENSMUST00000078623] [ENSMUST00000181023]
AlphaFold no structure available at present
Predicted Effect probably null
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 probably null
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 probably null
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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,624,128 (GRCm39) probably null Het
Aida A G 1: 183,085,633 (GRCm39) K44R probably damaging Het
Ano5 G A 7: 51,187,548 (GRCm39) V79M probably damaging Het
Armc9 G A 1: 86,124,041 (GRCm39) G405D probably damaging Het
Baat T A 4: 49,490,327 (GRCm39) R252S probably benign Het
C9orf72 G T 4: 35,194,170 (GRCm39) H372Q Het
Camkk2 G T 5: 122,880,275 (GRCm39) T447K possibly damaging Het
Car2 A G 3: 14,965,130 (GRCm39) I255V probably benign Het
Cdhr1 A T 14: 36,803,502 (GRCm39) S525T probably benign Het
Col24a1 T C 3: 145,019,901 (GRCm39) Y91H probably benign Het
Csmd2 G A 4: 128,313,366 (GRCm39) E1348K Het
Dcst1 A G 3: 89,260,068 (GRCm39) L592P probably damaging Het
Ddx17 A G 15: 79,421,723 (GRCm39) I334T probably damaging Het
Dspp A T 5: 104,323,259 (GRCm39) N134I probably damaging Het
Eif4g3 T C 4: 137,873,665 (GRCm39) V535A probably benign Het
Erc1 T C 6: 119,690,732 (GRCm39) E847G possibly damaging Het
Fancc A G 13: 63,508,056 (GRCm39) S160P possibly damaging Het
Fndc9 C T 11: 46,129,138 (GRCm39) A219V probably damaging Het
Ifitm1 G A 7: 140,548,282 (GRCm39) W38* probably null Het
Iqch A G 9: 63,329,002 (GRCm39) probably null Het
Krt9 T C 11: 100,083,522 (GRCm39) R170G possibly damaging Het
Lama4 T C 10: 38,902,747 (GRCm39) probably null Het
Lrrc18 A G 14: 32,730,973 (GRCm39) K171E probably damaging Het
Magi1 A G 6: 93,659,927 (GRCm39) S1007P probably benign Het
Muc16 T A 9: 18,549,789 (GRCm39) L5501F possibly damaging Het
Nrxn2 A G 19: 6,581,736 (GRCm39) N1557S probably benign Het
Or5g25 A T 2: 85,477,794 (GRCm39) Y290* probably null Het
Ovgp1 A G 3: 105,894,110 (GRCm39) T628A unknown Het
Pld5 A T 1: 175,872,480 (GRCm39) L219Q probably damaging Het
Rabggta G A 14: 55,956,969 (GRCm39) T273I probably benign Het
Rnf208 A G 2: 25,133,912 (GRCm39) D202G probably damaging Het
Sacs A G 14: 61,441,040 (GRCm39) N1029D not run Het
Sema6b T A 17: 56,438,555 (GRCm39) I114F probably damaging Het
Sgpp1 A G 12: 75,769,451 (GRCm39) I239T probably damaging Het
Slc12a3 A G 8: 95,071,515 (GRCm39) N638S probably damaging Het
Slc39a11 T C 11: 113,482,781 (GRCm39) probably null Het
Smc3 T C 19: 53,629,390 (GRCm39) S948P probably benign Het
Snx24 T A 18: 53,522,623 (GRCm39) H159Q probably benign Het
Sycp2 G T 2: 178,022,651 (GRCm39) N493K probably damaging Het
Tiam2 A G 17: 3,559,685 (GRCm39) D1242G probably damaging Het
Triobp G T 15: 78,858,204 (GRCm39) R1268S probably benign Het
Wdr12 T C 1: 60,136,753 (GRCm39) probably benign Het
Xirp2 T A 2: 67,340,325 (GRCm39) S855R probably benign Het
Zscan20 T A 4: 128,479,599 (GRCm39) H964L 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
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
R7990:Cryba1 UTSW 11 77,614,411 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GTCCTACCCCATTGCAAGTC -3'
(R):5'- GAAGTTTGTTCTTAACTTGCACCCC -3'

Sequencing Primer
(F):5'- TGCAAGTCTACTACCAAGATGTG -3'
(R):5'- AACTTGCACCCCTATTCTCAATG -3'
Posted On 2019-11-26