Incidental Mutation 'IGL00969:Cryz'
ID27152
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: 0.133) question?
Stock #IGL00969
Quality Score
Status
Chromosome3
Chromosomal Location154596711-154623182 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 154618526 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 51 (E51*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029850] [ENSMUST00000135723] [ENSMUST00000144764] [ENSMUST00000155232] [ENSMUST00000184537] [ENSMUST00000192462] [ENSMUST00000194876]
Predicted Effect probably null
Transcript: ENSMUST00000029850
AA Change: E183*
SMART Domains Protein: ENSMUSP00000029850
Gene: ENSMUSG00000028199
AA Change: E183*

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 probably benign
Transcript: ENSMUST00000135723
SMART Domains Protein: ENSMUSP00000143311
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
PDB:1YB5|B 1 38 5e-17 PDB
SCOP:d1qora1 9 38 9e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144764
SMART Domains Protein: ENSMUSP00000121269
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 132 2.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155232
SMART Domains Protein: ENSMUSP00000118449
Gene: ENSMUSG00000028199

DomainStartEndE-ValueType
Pfam:ADH_N 35 135 3.5e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184537
AA Change: E183*
SMART Domains Protein: ENSMUSP00000139387
Gene: ENSMUSG00000028199
AA Change: E183*

DomainStartEndE-ValueType
Pfam:ADH_N 35 180 4.7e-17 PFAM
Pfam:ADH_zinc_N 160 218 5.4e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000192462
AA Change: E183*
SMART Domains Protein: ENSMUSP00000142105
Gene: ENSMUSG00000028199
AA Change: E183*

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 probably null
Transcript: ENSMUST00000194876
AA Change: E183*
SMART Domains Protein: ENSMUSP00000142101
Gene: ENSMUSG00000028199
AA Change: E183*

DomainStartEndE-ValueType
Pfam:ADH_N 35 139 2.2e-14 PFAM
Pfam:ADH_zinc_N 160 290 1.4e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000195103
AA Change: E51*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195292
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
Akap9 G A 5: 4,001,550 S1439N probably benign Het
Bcl9l A G 9: 44,508,242 T1069A possibly damaging Het
Btaf1 T G 19: 37,011,252 probably benign Het
Cdc40 A T 10: 40,843,128 V335E probably damaging Het
Cenpj A T 14: 56,564,963 N48K possibly damaging Het
Cfh A G 1: 140,088,682 W635R probably damaging Het
Clca1 A G 3: 145,008,958 S633P possibly damaging Het
Cnot6 T C 11: 49,685,120 M176V probably benign Het
Dcc A G 18: 71,456,883 Y681H probably benign Het
Dmxl1 T A 18: 49,912,725 N2412K probably benign Het
Gpr137b C T 13: 13,365,065 W258* probably null Het
Hnf1b A G 11: 83,882,700 T242A probably benign Het
Hsd11b1 A T 1: 193,223,644 C213* probably null Het
Igsf11 A T 16: 39,008,917 T117S probably damaging Het
Inpp5b T C 4: 124,783,994 Y416H probably damaging Het
Kcnq3 C A 15: 66,004,726 V523F probably damaging Het
Krtap9-5 T C 11: 99,948,465 probably benign Het
Lrig3 T C 10: 125,997,115 L286S probably damaging Het
Myo18b C T 5: 112,875,007 probably benign Het
Nupl1 A G 14: 60,228,916 probably benign Het
Olfr1008 G A 2: 85,689,663 C78Y probably benign Het
Olfr1442 T C 19: 12,674,241 L12P probably damaging Het
Olfr186 A G 16: 59,027,631 I92T possibly damaging Het
Olfr623 T A 7: 103,661,067 Y61F probably damaging Het
Pyroxd2 T C 19: 42,731,438 D443G possibly damaging Het
Ttc28 A G 5: 111,225,740 D1014G probably benign Het
Tubgcp5 T A 7: 55,806,595 S312T possibly damaging Het
Uckl1 T C 2: 181,569,617 D473G probably benign Het
Vmn2r76 G T 7: 86,228,717 H491N probably benign Het
Wwc2 G A 8: 47,846,158 R1039W unknown Het
Zc3h14 T A 12: 98,758,843 S255T probably benign Het
Zfp369 T C 13: 65,297,260 V739A probably benign Het
Zfyve21 A G 12: 111,824,934 probably benign Het
Znhit6 A G 3: 145,594,596 probably benign Het
Other mutations in Cryz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Cryz APN 3 154604942 missense possibly damaging 0.95
IGL00838:Cryz APN 3 154618475 missense probably damaging 1.00
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 On2013-04-17