Incidental Mutation 'IGL02596:Cryzl2'
ID299874
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 #IGL02596
Quality Score
Status
Chromosome1
Chromosomal Location157458577-157492638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 157464969 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 107 (D107V)
Ref Sequence ENSEMBL: ENSMUSP00000113664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046743] [ENSMUST00000119891] [ENSMUST00000193791]
Predicted Effect probably damaging
Transcript: ENSMUST00000046743
AA Change: D107V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044945
Gene: ENSMUSG00000033488
AA Change: D107V

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 damaging
Transcript: ENSMUST00000119891
AA Change: D107V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113664
Gene: ENSMUSG00000033488
AA Change: D107V

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193791
AA Change: D107V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141717
Gene: ENSMUSG00000033488
AA Change: D107V

DomainStartEndE-ValueType
Pfam:ADH_N 51 159 1.9e-15 PFAM
low complexity region 166 180 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000195702
AA Change: D34V
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,950,667 Q11H possibly damaging Het
4931408C20Rik T A 1: 26,684,002 H699L probably benign Het
Armcx5 T A X: 135,746,519 I448K probably damaging Het
Atp4b T A 8: 13,393,471 Y69F possibly damaging Het
Ccdc7b T A 8: 129,072,478 V12E probably benign Het
Cdc5l C A 17: 45,424,604 probably benign Het
Clptm1l C T 13: 73,613,666 R330C probably benign Het
Cpq C T 15: 33,213,014 R60W probably damaging Het
Cpvl T C 6: 53,932,010 Y256C probably damaging Het
Cyp2e1 G A 7: 140,770,118 V239M probably damaging Het
Cyp2j7 T A 4: 96,215,422 D292V possibly damaging Het
Dcaf1 A G 9: 106,863,021 Y1202C probably damaging Het
Dnah3 T C 7: 119,938,914 N3616S probably benign Het
Enam A G 5: 88,503,026 D723G probably benign Het
Eps8l1 G A 7: 4,470,872 R226H probably damaging Het
Erich2 A G 2: 70,512,803 probably benign Het
Esyt3 A C 9: 99,328,015 L271V probably benign Het
Fer1l4 T C 2: 156,039,132 N838S probably benign Het
Gad1 T C 2: 70,594,684 Y441H probably damaging Het
Gja1 G T 10: 56,388,252 V236F possibly damaging Het
Gpr156 T C 16: 37,978,724 I100T probably benign Het
Hace1 A G 10: 45,700,640 T803A possibly damaging Het
Jagn1 G A 6: 113,447,601 V145I probably benign Het
Kdm4b C A 17: 56,399,706 T899K probably benign Het
Klk1b8 G A 7: 43,952,763 V40M probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mast1 G T 8: 84,917,771 A843E probably benign Het
Mbd1 T A 18: 74,276,797 probably benign Het
Mdga1 A G 17: 29,832,405 probably benign Het
Mlh3 A G 12: 85,240,958 probably null Het
Olfr1115 C A 2: 87,252,129 T64K probably damaging Het
Olfr1463 A T 19: 13,234,399 I50F probably damaging Het
Pwp1 A G 10: 85,872,018 probably null Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc12a7 T A 13: 73,785,123 V100E probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tgfb1i1 T A 7: 128,248,896 M1K probably null Het
Tubgcp6 T A 15: 89,100,914 E1657V probably damaging Het
Zfp770 A G 2: 114,195,827 V587A probably benign Het
Zxdc A G 6: 90,373,709 probably null Het
Other mutations in Cryzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Cryzl2 APN 1 157470676 missense probably benign
IGL01481:Cryzl2 APN 1 157470739 unclassified probably null
IGL01878:Cryzl2 APN 1 157472400 missense possibly damaging 0.70
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 On2015-04-16