Incidental Mutation 'R7671:Cryba4'
ID 592156
Institutional Source Beutler Lab
Gene Symbol Cryba4
Ensembl Gene ENSMUSG00000066975
Gene Name crystallin, beta A4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 112246493-112252518 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 112248173 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086629] [ENSMUST00000112383] [ENSMUST00000112385]
AlphaFold Q9JJV0
Predicted Effect probably null
Transcript: ENSMUST00000086629
SMART Domains Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975

XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112383
SMART Domains Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975

XTALbg 1 84 1.71e-35 SMART
XTALbg 93 181 2.59e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112385
SMART Domains Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975

XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,925 (GRCm38) I394N probably damaging Het
4930435E12Rik C T 16: 38,828,091 (GRCm38) D219N possibly damaging Het
4932438A13Rik T C 3: 36,943,231 (GRCm38) F1146L probably damaging Het
4933406M09Rik T C 1: 134,390,062 (GRCm38) C191R probably benign Het
Akap13 C A 7: 75,569,900 (GRCm38) T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 (GRCm38) K257I probably damaging Het
Bicc1 A G 10: 70,957,167 (GRCm38) L219P probably benign Het
Boc C T 16: 44,491,849 (GRCm38) V617M Het
Ccl8 A G 11: 82,115,207 (GRCm38) probably benign Het
Col18a1 A G 10: 77,085,383 (GRCm38) L261P unknown Het
Col5a3 T A 9: 20,775,086 (GRCm38) probably null Het
Csf2rb A G 15: 78,338,930 (GRCm38) Y114C probably damaging Het
Ctif T C 18: 75,472,016 (GRCm38) D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 (GRCm38) F261L probably damaging Het
Defb22 A T 2: 152,486,030 (GRCm38) N78K unknown Het
Efr3a G A 15: 65,837,434 (GRCm38) probably null Het
Elp4 G T 2: 105,904,481 (GRCm38) A3E probably damaging Het
Emilin2 A G 17: 71,273,910 (GRCm38) V607A probably benign Het
Epsti1 A G 14: 77,904,490 (GRCm38) Y2C probably damaging Het
Fam81b G T 13: 76,271,294 (GRCm38) L46I possibly damaging Het
Fam81b A C 13: 76,271,293 (GRCm38) L46R probably damaging Het
Fbxo15 T A 18: 84,964,153 (GRCm38) H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 (GRCm38) N77I probably damaging Het
Ganab A G 19: 8,912,852 (GRCm38) Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 (GRCm38) S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 (GRCm38) D1539G probably damaging Het
Kcp T C 6: 29,496,517 (GRCm38) N633S probably benign Het
Krt6a C A 15: 101,690,543 (GRCm38) S529I unknown Het
Leo1 A G 9: 75,445,562 (GRCm38) H129R probably benign Het
Lmf1 G A 17: 25,579,349 (GRCm38) V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 (GRCm38) S472P probably benign Het
Med27 T A 2: 29,377,938 (GRCm38) V33D Het
Mup15 C T 4: 61,438,289 (GRCm38) E80K probably benign Het
Myo18a G A 11: 77,859,420 (GRCm38) R199H Het
Nebl T A 2: 17,390,916 (GRCm38) R558* probably null Het
Olfr1121 A G 2: 87,372,269 (GRCm38) T246A probably damaging Het
Olfr1252 A T 2: 89,721,259 (GRCm38) I284K probably damaging Het
Olfr1329 A T 4: 118,916,986 (GRCm38) H160Q probably benign Het
Olfr506 T C 7: 108,612,991 (GRCm38) I228T probably damaging Het
Olfr740 G T 14: 50,453,885 (GRCm38) V278L probably benign Het
Olfr815 T C 10: 129,902,353 (GRCm38) D119G probably damaging Het
Olfr890 A T 9: 38,143,440 (GRCm38) M97L probably benign Het
Pde11a A T 2: 76,215,353 (GRCm38) F376I possibly damaging Het
Prima1 A T 12: 103,235,661 (GRCm38) C52S probably damaging Het
Pxn G A 5: 115,548,547 (GRCm38) R366H not run Het
Sgce T C 6: 4,691,564 (GRCm38) Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 (GRCm38) M130K probably benign Het
Slc29a2 A T 19: 5,024,262 (GRCm38) N5I probably benign Het
Slc35a1 A T 4: 34,673,875 (GRCm38) H150Q Het
Slc5a4a T A 10: 76,147,550 (GRCm38) V7D unknown Het
Stk17b T A 1: 53,766,000 (GRCm38) D134V probably damaging Het
Thbs3 T A 3: 89,216,707 (GRCm38) S36T probably benign Het
Thsd4 A G 9: 60,428,174 (GRCm38) S152P probably benign Het
Tmem67 G T 4: 12,063,698 (GRCm38) H422N probably benign Het
Tram1 C A 1: 13,589,644 (GRCm38) V27F probably damaging Het
Trim14 A G 4: 46,507,238 (GRCm38) V326A possibly damaging Het
Other mutations in Cryba4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Cryba4 APN 5 112,251,009 (GRCm38) unclassified probably benign
R0741:Cryba4 UTSW 5 112,246,688 (GRCm38) missense probably damaging 1.00
R5622:Cryba4 UTSW 5 112,251,124 (GRCm38) missense probably damaging 1.00
R5811:Cryba4 UTSW 5 112,251,071 (GRCm38) missense probably benign
R6644:Cryba4 UTSW 5 112,246,762 (GRCm38) missense probably damaging 1.00
R7008:Cryba4 UTSW 5 112,251,782 (GRCm38) missense probably benign
R7554:Cryba4 UTSW 5 112,251,103 (GRCm38) missense probably damaging 0.99
R7556:Cryba4 UTSW 5 112,251,103 (GRCm38) missense probably damaging 0.99
R7888:Cryba4 UTSW 5 112,251,052 (GRCm38) missense probably benign 0.01
R9161:Cryba4 UTSW 5 112,248,173 (GRCm38) critical splice donor site probably null
R9393:Cryba4 UTSW 5 112,246,766 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-12