Incidental Mutation 'IGL00808:Cryzl2'
ID9230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryzl2
Ensembl Gene ENSMUSG00000033488
Gene Namecrystallin zeta like 2
SynonymsBC026585, quinone reductase-like 2
Accession Numbers

Genbank: NM_001033284

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00808
Quality Score
Status
Chromosome1
Chromosomal Location157458577-157492638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 157470676 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 212 (F212L)
Ref Sequence ENSEMBL: ENSMUSP00000044945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046743] [ENSMUST00000119891] [ENSMUST00000193791]
Predicted Effect probably benign
Transcript: ENSMUST00000046743
AA Change: F212L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044945
Gene: ENSMUSG00000033488
AA Change: F212L

DomainStartEndE-ValueType
Pfam:ADH_N 51 174 4.1e-14 PFAM
Pfam:ADH_zinc_N 175 309 2.5e-23 PFAM
Pfam:ADH_zinc_N_2 208 347 2.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119891
SMART Domains Protein: ENSMUSP00000113664
Gene: ENSMUSG00000033488

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193791
SMART Domains Protein: ENSMUSP00000141717
Gene: ENSMUSG00000033488

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.9e-15 PFAM
low complexity region 166 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194220
Predicted Effect unknown
Transcript: ENSMUST00000195702
AA Change: F139L
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,614,952 I297T probably damaging Het
Agtpbp1 T C 13: 59,462,094 E131G possibly damaging Het
Ankrd12 A G 17: 65,983,965 L1491S probably benign Het
Arid4b T C 13: 14,136,261 probably null Het
Aspm T A 1: 139,461,476 S626T probably benign Het
Catsperg1 A G 7: 29,198,146 S238P probably damaging Het
Clns1a A G 7: 97,716,514 H241R probably damaging Het
Epha5 A T 5: 84,106,700 V519E probably damaging Het
Kcnq3 T C 15: 65,995,754 D680G possibly damaging Het
Kras T C 6: 145,246,748 T20A probably damaging Het
Myh13 T C 11: 67,335,004 probably null Het
Nbas T C 12: 13,566,120 probably benign Het
Pde8a G A 7: 81,283,014 probably null Het
Rasgef1a A T 6: 118,088,203 K384M probably damaging Het
Selenov A G 7: 28,290,426 S218P probably damaging Het
Tg T A 15: 66,683,813 Y785N probably damaging Het
Ttll13 G T 7: 80,259,549 A661S possibly damaging Het
Other mutations in Cryzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Cryzl2 APN 1 157470739 unclassified probably null
IGL01878:Cryzl2 APN 1 157472400 missense possibly damaging 0.70
IGL02596:Cryzl2 APN 1 157464969 missense probably damaging 1.00
G5030:Cryzl2 UTSW 1 157465010 nonsense probably null
R0399:Cryzl2 UTSW 1 157462016 missense probably damaging 1.00
R0402:Cryzl2 UTSW 1 157464444 missense probably benign 0.00
R0518:Cryzl2 UTSW 1 157464430 missense probably damaging 1.00
R0761:Cryzl2 UTSW 1 157465724 missense probably benign 0.15
R1104:Cryzl2 UTSW 1 157470604 splice site probably benign
R1471:Cryzl2 UTSW 1 157470721 missense probably benign 0.01
R1773:Cryzl2 UTSW 1 157470722 missense probably benign 0.01
R4752:Cryzl2 UTSW 1 157458649 splice site probably null
R5046:Cryzl2 UTSW 1 157465013 missense probably damaging 1.00
R5389:Cryzl2 UTSW 1 157461976 nonsense probably null
R5778:Cryzl2 UTSW 1 157470787 missense probably benign 0.00
R6928:Cryzl2 UTSW 1 157470787 missense probably benign 0.00
R7037:Cryzl2 UTSW 1 157470748 missense probably damaging 0.99
R7099:Cryzl2 UTSW 1 157488584 critical splice donor site probably benign
Z1088:Cryzl2 UTSW 1 157465789 missense probably benign 0.22
Posted On2012-12-06