Incidental Mutation 'IGL02088:Cryba4'
ID 279331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryba4
Ensembl Gene ENSMUSG00000066975
Gene Name crystallin, beta A4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02088
Quality Score
Status
Chromosome 5
Chromosomal Location 112394359-112400384 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 112398875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118399 (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
SMART Domains Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975

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
SMART Domains Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975

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

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 103,976,080 (GRCm39) E289G probably damaging Het
Aldh1l1 A T 6: 90,557,572 (GRCm39) probably benign Het
Ampd3 T A 7: 110,392,893 (GRCm39) D220E probably benign Het
Ank3 T C 10: 69,835,203 (GRCm39) V136A probably damaging Het
Atg14 T C 14: 47,780,316 (GRCm39) K486R probably benign Het
Axin1 A G 17: 26,407,669 (GRCm39) I637V probably benign Het
Axin2 T A 11: 108,814,442 (GRCm39) F110Y probably damaging Het
Cdh12 A T 15: 21,480,425 (GRCm39) K214* probably null Het
Cfap44 A C 16: 44,271,991 (GRCm39) E1248A possibly damaging Het
Cyp2c68 A G 19: 39,691,965 (GRCm39) probably benign Het
Dnah5 G T 15: 28,459,264 (GRCm39) probably null Het
Dok3 A T 13: 55,672,183 (GRCm39) V165E probably damaging Het
Etl4 A T 2: 20,811,359 (GRCm39) R1147S probably damaging Het
Fbxl6 G T 15: 76,420,106 (GRCm39) C502* probably null Het
Gp2 A T 7: 119,053,692 (GRCm39) Y90N probably damaging Het
H1f7 G T 15: 98,155,059 (GRCm39) T30K probably damaging Het
Inka1 A G 9: 107,861,656 (GRCm39) F220S probably damaging Het
Itfg2 A G 6: 128,388,569 (GRCm39) V306A probably benign Het
Lrig2 T C 3: 104,374,424 (GRCm39) Y219C probably damaging Het
Mccc1 A T 3: 36,028,351 (GRCm39) I485N probably damaging Het
Mettl25 A G 10: 105,659,111 (GRCm39) F391L probably damaging Het
Muc19 C T 15: 91,775,362 (GRCm39) noncoding transcript Het
Muc2 T C 7: 141,305,241 (GRCm39) C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 (GRCm38) noncoding transcript Het
Nms A G 1: 38,978,358 (GRCm39) probably benign Het
Nr3c1 T C 18: 39,557,444 (GRCm39) N503S probably damaging Het
Or10q12 T C 19: 13,746,030 (GRCm39) F108S probably damaging Het
Or5h18 A G 16: 58,847,415 (GRCm39) L285P probably damaging Het
Or7g16 C T 9: 18,727,219 (GRCm39) V124I probably benign Het
Pcdhb5 G A 18: 37,455,012 (GRCm39) S464N probably benign Het
Pcgf6 T C 19: 47,039,243 (GRCm39) T6A unknown Het
Rdx A G 9: 51,972,183 (GRCm39) probably benign Het
Shmt1 T C 11: 60,680,479 (GRCm39) T403A probably damaging Het
Slc35d1 A G 4: 103,068,522 (GRCm39) F148L probably benign Het
Tk1 A G 11: 117,715,491 (GRCm39) probably benign Het
Tnks T A 8: 35,307,148 (GRCm39) I1134F possibly damaging Het
Ttn A G 2: 76,557,035 (GRCm39) V29990A probably damaging Het
Tut4 A G 4: 108,369,415 (GRCm39) probably benign Het
Other mutations in Cryba4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16