Incidental Mutation 'IGL01397:Crybb3'
ID79488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crybb3
Ensembl Gene ENSMUSG00000029352
Gene Namecrystallin, beta B3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01397
Quality Score
Status
Chromosome5
Chromosomal Location113075839-113081584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113079835 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 40 (E40G)
Ref Sequence ENSEMBL: ENSMUSP00000121929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076069] [ENSMUST00000117143] [ENSMUST00000118226] [ENSMUST00000119627] [ENSMUST00000120506] [ENSMUST00000131708] [ENSMUST00000136352] [ENSMUST00000140352]
Predicted Effect probably damaging
Transcript: ENSMUST00000076069
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075440
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117143
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113347
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118226
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112618
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 107 7.7e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119627
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113572
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120506
AA Change: E40G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112718
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 107 7.5e-40 SMART
XTALbg 115 197 2.4e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131708
AA Change: E40G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115758
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 79 8.84e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134039
Predicted Effect possibly damaging
Transcript: ENSMUST00000136352
AA Change: E40G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121559
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
Pfam:Crystall 25 65 2.9e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140352
AA Change: E40G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121929
Gene: ENSMUSG00000029352
AA Change: E40G

DomainStartEndE-ValueType
XTALbg 25 119 7.78e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155042
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. 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 basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 128,034,891 T436P possibly damaging Het
Afap1 T A 5: 35,968,708 V349E probably damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Foxi1 T A 11: 34,207,599 Q142L probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Lars A T 18: 42,228,029 H691Q probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Snx30 T C 4: 59,894,526 V368A probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Washc2 A G 6: 116,247,998 D683G probably benign Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown Het
Other mutations in Crybb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0125:Crybb3 UTSW 5 113079809 missense possibly damaging 0.70
R0279:Crybb3 UTSW 5 113079753 unclassified probably null
R0360:Crybb3 UTSW 5 113075953 missense probably damaging 0.99
R0364:Crybb3 UTSW 5 113075953 missense probably damaging 0.99
R1083:Crybb3 UTSW 5 113080578 utr 5 prime probably benign
R1687:Crybb3 UTSW 5 113079767 missense probably damaging 1.00
R4031:Crybb3 UTSW 5 113079869 missense probably damaging 1.00
R7719:Crybb3 UTSW 5 113075968 missense probably damaging 1.00
R8155:Crybb3 UTSW 5 113077600 missense probably damaging 1.00
Posted On2013-11-05