Incidental Mutation 'IGL00499:Cryz'
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ID6730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryz
Ensembl Gene ENSMUSG00000028199
Gene Namecrystallin, zeta
SynonymsSez9, quinone reductase, SEZ9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL00499
Quality Score
Status
Chromosome3
Chromosomal Location154596711-154623182 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 154604942 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 13 (V13A)
Ref Sequence ENSEMBL: ENSMUSP00000142101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029850] [ENSMUST00000135723] [ENSMUST00000140644] [ENSMUST00000144764] [ENSMUST00000155232] [ENSMUST00000155385] [ENSMUST00000184537] [ENSMUST00000192462] [ENSMUST00000194876]
Predicted Effect probably benign
Transcript: ENSMUST00000029850
AA Change: V13A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 131 3.3e-14 PFAM
Pfam:ADH_zinc_N 160 290 1.3e-30 PFAM
Pfam:ADH_zinc_N_2 192 329 1.7e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135723
AA Change: V13A
SMART Domains Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
PDB:1YB5|B 1 38 5e-17 PDB
SCOP:d1qora1 9 38 9e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000140644
AA Change: V13A

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115146
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 98 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144764
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 132 2.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155232
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 135 3.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155385
AA Change: V13A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122619
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 130 2.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184537
AA Change: V13A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 180 4.7e-17 PFAM
Pfam:ADH_zinc_N 160 218 5.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192462
AA Change: V13A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 131 2.8e-16 PFAM
Pfam:ADH_zinc_N 160 290 1.8e-29 PFAM
Pfam:ADH_zinc_N_2 192 329 4.3e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000194876
AA Change: V13A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: V13A

DomainStartEndE-ValueType
Pfam:ADH_N 35 139 2.2e-14 PFAM
Pfam:ADH_zinc_N 160 290 1.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195103
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. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,875,308 noncoding transcript Het
Abcb9 T C 5: 124,077,238 D480G possibly damaging Het
Adam26a A T 8: 43,568,859 N531K possibly damaging Het
AW554918 A T 18: 25,420,065 K542* probably null Het
Blk A G 14: 63,380,720 F246L probably damaging Het
Camk1 T C 6: 113,336,211 E292G probably benign Het
Ccdc88a C T 11: 29,499,341 T261I probably benign Het
Cep290 A T 10: 100,543,327 Q57L probably damaging Het
Cpsf1 A T 15: 76,600,216 H688Q probably benign Het
Dst A G 1: 34,290,423 K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 V371E possibly damaging Het
Eps8 C A 6: 137,522,888 E181* probably null Het
Flt4 T C 11: 49,635,261 I796T probably damaging Het
Gmps A G 3: 64,014,367 N597S probably benign Het
Itgav T A 2: 83,802,995 M1011K probably damaging Het
Kif16b A G 2: 142,857,324 M112T probably damaging Het
Lig1 T C 7: 13,298,830 probably null Het
Lrrc30 A G 17: 67,632,039 F182S probably damaging Het
Oxsm A T 14: 16,242,076 M231K probably damaging Het
Pnisr T C 4: 21,870,407 probably null Het
Rsrc1 A T 3: 67,082,600 probably benign Het
Setd1b A T 5: 123,158,747 probably benign Het
Tbx6 A G 7: 126,781,529 Y8C probably damaging Het
Tmem33 T C 5: 67,284,195 Y196H probably damaging Het
Traf5 T C 1: 192,057,174 D96G possibly damaging Het
Tsc22d1 T A 14: 76,418,917 D945E probably damaging Het
Tubb2b T C 13: 34,128,346 I155V probably benign Het
Usp13 T A 3: 32,881,411 Y328N probably damaging Het
Usp17lc G A 7: 103,418,466 D323N probably damaging Het
Usp17lc G A 7: 103,418,465 M322I probably damaging Het
Zfp341 C T 2: 154,634,231 T446I probably damaging Het
Zfp407 A G 18: 84,561,752 L412P probably damaging Het
Zfp521 T A 18: 13,939,120 D21V probably benign Het
Zranb1 A G 7: 132,982,504 probably benign Het
Other mutations in Cryz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Cryz APN 3 154618475 missense probably damaging 1.00
IGL00969:Cryz APN 3 154618526 nonsense probably null
IGL01571:Cryz APN 3 154621743 missense probably damaging 1.00
IGL03082:Cryz APN 3 154604926 missense probably damaging 1.00
R0049:Cryz UTSW 3 154611552 missense probably damaging 1.00
R0049:Cryz UTSW 3 154611552 missense probably damaging 1.00
R1116:Cryz UTSW 3 154621603 splice site probably benign
R1470:Cryz UTSW 3 154606476 missense probably damaging 1.00
R1470:Cryz UTSW 3 154606476 missense probably damaging 1.00
R1586:Cryz UTSW 3 154611510 missense probably benign 0.00
R2018:Cryz UTSW 3 154621683 missense probably damaging 1.00
R2223:Cryz UTSW 3 154618554 missense possibly damaging 0.86
R2334:Cryz UTSW 3 154622191 missense probably benign 0.04
R4488:Cryz UTSW 3 154618457 splice site probably benign
R5547:Cryz UTSW 3 154611557 nonsense probably null
R5595:Cryz UTSW 3 154606518 missense probably damaging 1.00
R5917:Cryz UTSW 3 154621766 missense probably benign 0.05
R7197:Cryz UTSW 3 154621568 missense probably damaging 0.99
R7473:Cryz UTSW 3 154606520 missense probably benign
R8121:Cryz UTSW 3 154621745 missense probably benign 0.00
Z1176:Cryz UTSW 3 154621769 missense probably benign 0.00
Posted On2012-04-20