Incidental Mutation 'R0741:Cryba4'
ID 70680
Institutional Source Beutler Lab
Gene Symbol Cryba4
Ensembl Gene ENSMUSG00000066975
Gene Name crystallin, beta A4
Synonyms
MMRRC Submission 038922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0741 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 112394359-112400384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112394554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 192 (R192C)
Ref Sequence ENSEMBL: ENSMUSP00000108004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086629] [ENSMUST00000112383] [ENSMUST00000112385]
AlphaFold Q9JJV0
Predicted Effect probably damaging
Transcript: ENSMUST00000086629
AA Change: R192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975
AA Change: R192C

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112383
AA Change: R179C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975
AA Change: R179C

DomainStartEndE-ValueType
XTALbg 1 84 1.71e-35 SMART
XTALbg 93 181 2.59e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112385
AA Change: R192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975
AA Change: R192C

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.1%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 T A 1: 93,329,309 (GRCm39) I701N probably damaging Het
Asb7 A T 7: 66,309,882 (GRCm39) N111K probably benign Het
Atp10a T A 7: 58,478,337 (GRCm39) L1460Q possibly damaging Het
Auh T C 13: 53,083,638 (GRCm39) T14A possibly damaging Het
Caskin2 A G 11: 115,695,626 (GRCm39) V245A probably damaging Het
Ctsq T A 13: 61,184,019 (GRCm39) D301V probably damaging Het
Dpyd A G 3: 118,468,154 (GRCm39) E56G possibly damaging Het
Dtd2 T C 12: 52,046,455 (GRCm39) K128R probably benign Het
Eps8l3 A G 3: 107,790,141 (GRCm39) T141A probably benign Het
Evc A T 5: 37,483,739 (GRCm39) I187N possibly damaging Het
Fam120a A G 13: 49,045,416 (GRCm39) S807P possibly damaging Het
Fbxw22 G A 9: 109,211,287 (GRCm39) S338L probably benign Het
Gcnt4 G T 13: 97,082,940 (GRCm39) E79* probably null Het
Get4 G A 5: 139,249,384 (GRCm39) probably benign Het
Hipk1 A G 3: 103,654,128 (GRCm39) V954A probably benign Het
Ifi206 C T 1: 173,301,315 (GRCm39) V788M probably benign Het
Iqgap1 A G 7: 80,370,735 (GRCm39) S1545P probably benign Het
Kif21b A G 1: 136,087,482 (GRCm39) T933A probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Magee2 A G X: 103,899,472 (GRCm39) L393P probably damaging Het
Mtrr T C 13: 68,727,658 (GRCm39) probably null Het
Nes A G 3: 87,886,274 (GRCm39) E1467G probably damaging Het
Nol3 C G 8: 106,005,756 (GRCm39) A50G probably damaging Het
Nr2f2 G A 7: 70,007,745 (GRCm39) R113C probably damaging Het
Obscn CCACACACACACAC CCACACACACAC 11: 58,954,279 (GRCm39) probably null Het
Or10a3m T A 7: 108,312,811 (GRCm39) C84S probably benign Het
Pnkd T A 1: 74,391,018 (GRCm39) S337R possibly damaging Het
Ptprh A G 7: 4,557,172 (GRCm39) probably null Het
Ralgapa1 A C 12: 55,723,366 (GRCm39) V1767G probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skap1 A C 11: 96,383,759 (GRCm39) probably benign Het
Trip12 A G 1: 84,722,902 (GRCm39) S1250P probably benign Het
Txndc5 T C 13: 38,712,236 (GRCm39) H50R possibly damaging Het
Usp25 C A 16: 76,868,596 (GRCm39) D332E possibly damaging Het
Vgll1 A T X: 56,141,644 (GRCm39) probably benign Het
Other mutations in Cryba4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Cryba4 APN 5 112,398,875 (GRCm39) unclassified probably benign
R5622:Cryba4 UTSW 5 112,398,990 (GRCm39) missense probably damaging 1.00
R5811:Cryba4 UTSW 5 112,398,937 (GRCm39) missense probably benign
R6644:Cryba4 UTSW 5 112,394,628 (GRCm39) missense probably damaging 1.00
R7008:Cryba4 UTSW 5 112,399,648 (GRCm39) missense probably benign
R7554:Cryba4 UTSW 5 112,398,969 (GRCm39) missense probably damaging 0.99
R7556:Cryba4 UTSW 5 112,398,969 (GRCm39) missense probably damaging 0.99
R7671:Cryba4 UTSW 5 112,396,039 (GRCm39) critical splice donor site probably null
R7888:Cryba4 UTSW 5 112,398,918 (GRCm39) missense probably benign 0.01
R9161:Cryba4 UTSW 5 112,396,039 (GRCm39) critical splice donor site probably null
R9393:Cryba4 UTSW 5 112,394,632 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGGGGACACAGTTGATACTGAGTC -3'
(R):5'- CCTAAAGAACAGCCTTGGGTGTGG -3'

Sequencing Primer
(F):5'- GACACAGTTGATACTGAGTCTTTTG -3'
(R):5'- CAGGGCCATGAAGCTCAC -3'
Posted On 2013-09-30