Incidental Mutation 'R5811:Cryba4'
ID 447513
Institutional Source Beutler Lab
Gene Symbol Cryba4
Ensembl Gene ENSMUSG00000066975
Gene Name crystallin, beta A4
Synonyms
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 112394359-112400384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112398937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 36 (V36I)
Ref Sequence ENSEMBL: ENSMUSP00000108004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031286] [ENSMUST00000086629] [ENSMUST00000112375] [ENSMUST00000112383] [ENSMUST00000112385] [ENSMUST00000131673]
AlphaFold Q9JJV0
Predicted Effect probably benign
Transcript: ENSMUST00000031286
SMART Domains Protein: ENSMUSP00000031286
Gene: ENSMUSG00000029343

DomainStartEndE-ValueType
low complexity region 19 47 N/A INTRINSIC
XTALbg 58 140 9.71e-40 SMART
XTALbg 148 230 5.8e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086629
AA Change: V36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975
AA Change: V36I

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112375
SMART Domains Protein: ENSMUSP00000107994
Gene: ENSMUSG00000029343

DomainStartEndE-ValueType
low complexity region 19 47 N/A INTRINSIC
XTALbg 58 140 9.71e-40 SMART
XTALbg 148 230 5.8e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112383
AA Change: V23I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975
AA Change: V23I

DomainStartEndE-ValueType
XTALbg 1 84 1.71e-35 SMART
XTALbg 93 181 2.59e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112385
AA Change: V36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975
AA Change: V36I

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131673
SMART Domains Protein: ENSMUSP00000118399
Gene: ENSMUSG00000029343

DomainStartEndE-ValueType
low complexity region 19 47 N/A INTRINSIC
XTALbg 58 140 9.71e-40 SMART
XTALbg 148 230 5.8e-38 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Cryba4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Cryba4 APN 5 112,398,875 (GRCm39) unclassified probably benign
R0741:Cryba4 UTSW 5 112,394,554 (GRCm39) missense probably damaging 1.00
R5622:Cryba4 UTSW 5 112,398,990 (GRCm39) missense probably damaging 1.00
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'- TACAGTGCAAGCCTGGAAAG -3'
(R):5'- AAATTGTGCTGTCCAGGATCCC -3'

Sequencing Primer
(F):5'- GATGTACCTAGGATCATACACAGGC -3'
(R):5'- CCTGGAGGCATGTGACCTCTG -3'
Posted On 2016-12-15