Incidental Mutation 'IGL02596:Cryzl2'
ID 299874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryzl2
Ensembl Gene ENSMUSG00000033488
Gene Name crystallin zeta like 2
Synonyms quinone reductase-like 2, BC026585
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02596
Quality Score
Status
Chromosome 1
Chromosomal Location 157286147-157320208 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157292539 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UNZ8
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: 73,868,904 (GRCm39) Q11H possibly damaging Het
Armcx5 T A X: 134,647,268 (GRCm39) I448K probably damaging Het
Atp4b T A 8: 13,443,471 (GRCm39) Y69F possibly damaging Het
Ccdc7b T A 8: 129,798,959 (GRCm39) V12E probably benign Het
Cdc5l C A 17: 45,735,530 (GRCm39) probably benign Het
Clptm1l C T 13: 73,761,785 (GRCm39) R330C probably benign Het
Cpq C T 15: 33,213,160 (GRCm39) R60W probably damaging Het
Cpvl T C 6: 53,908,995 (GRCm39) Y256C probably damaging Het
Cyp2e1 G A 7: 140,350,031 (GRCm39) V239M probably damaging Het
Cyp2j7 T A 4: 96,103,659 (GRCm39) D292V possibly damaging Het
Dcaf1 A G 9: 106,740,220 (GRCm39) Y1202C probably damaging Het
Dnah3 T C 7: 119,538,137 (GRCm39) N3616S probably benign Het
Enam A G 5: 88,650,885 (GRCm39) D723G probably benign Het
Eps8l1 G A 7: 4,473,871 (GRCm39) R226H probably damaging Het
Erich2 A G 2: 70,343,147 (GRCm39) probably benign Het
Esyt3 A C 9: 99,210,068 (GRCm39) L271V probably benign Het
Fer1l4 T C 2: 155,881,052 (GRCm39) N838S probably benign Het
Gad1 T C 2: 70,425,028 (GRCm39) Y441H probably damaging Het
Gja1 G T 10: 56,264,348 (GRCm39) V236F possibly damaging Het
Gpr156 T C 16: 37,799,086 (GRCm39) I100T probably benign Het
Hace1 A G 10: 45,576,736 (GRCm39) T803A possibly damaging Het
Jagn1 G A 6: 113,424,562 (GRCm39) V145I probably benign Het
Kdm4b C A 17: 56,706,706 (GRCm39) T899K probably benign Het
Klk1b8 G A 7: 43,602,187 (GRCm39) V40M probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mast1 G T 8: 85,644,400 (GRCm39) A843E probably benign Het
Mbd1 T A 18: 74,409,868 (GRCm39) probably benign Het
Mdga1 A G 17: 30,051,379 (GRCm39) probably benign Het
Mlh3 A G 12: 85,287,732 (GRCm39) probably null Het
Or10ag53 C A 2: 87,082,473 (GRCm39) T64K probably damaging Het
Or5b109 A T 19: 13,211,763 (GRCm39) I50F probably damaging Het
Pwp1 A G 10: 85,707,882 (GRCm39) probably null Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,242 (GRCm39) V100E probably benign Het
Spata31e2 T A 1: 26,723,083 (GRCm39) H699L probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tgfb1i1 T A 7: 127,848,068 (GRCm39) M1K probably null Het
Tubgcp6 T A 15: 88,985,117 (GRCm39) E1657V probably damaging Het
Zfp770 A G 2: 114,026,308 (GRCm39) V587A probably benign Het
Zxdc A G 6: 90,350,691 (GRCm39) probably null Het
Other mutations in Cryzl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00808:Cryzl2 APN 1 157,298,246 (GRCm39) missense probably benign
IGL01481:Cryzl2 APN 1 157,298,309 (GRCm39) splice site probably null
IGL01878:Cryzl2 APN 1 157,299,970 (GRCm39) missense possibly damaging 0.70
G5030:Cryzl2 UTSW 1 157,292,580 (GRCm39) nonsense probably null
R0399:Cryzl2 UTSW 1 157,289,586 (GRCm39) missense probably damaging 1.00
R0402:Cryzl2 UTSW 1 157,292,014 (GRCm39) missense probably benign 0.00
R0518:Cryzl2 UTSW 1 157,292,000 (GRCm39) missense probably damaging 1.00
R0761:Cryzl2 UTSW 1 157,293,294 (GRCm39) missense probably benign 0.15
R1104:Cryzl2 UTSW 1 157,298,174 (GRCm39) splice site probably benign
R1471:Cryzl2 UTSW 1 157,298,291 (GRCm39) missense probably benign 0.01
R1773:Cryzl2 UTSW 1 157,298,292 (GRCm39) missense probably benign 0.01
R4752:Cryzl2 UTSW 1 157,286,219 (GRCm39) splice site probably null
R5046:Cryzl2 UTSW 1 157,292,583 (GRCm39) missense probably damaging 1.00
R5389:Cryzl2 UTSW 1 157,289,546 (GRCm39) nonsense probably null
R5778:Cryzl2 UTSW 1 157,298,357 (GRCm39) missense probably benign 0.00
R6928:Cryzl2 UTSW 1 157,298,357 (GRCm39) missense probably benign 0.00
R7037:Cryzl2 UTSW 1 157,298,318 (GRCm39) missense probably damaging 0.99
R7099:Cryzl2 UTSW 1 157,316,154 (GRCm39) critical splice donor site probably benign
R7911:Cryzl2 UTSW 1 157,299,925 (GRCm39) missense probably benign
R8854:Cryzl2 UTSW 1 157,286,370 (GRCm39) missense possibly damaging 0.66
R9618:Cryzl2 UTSW 1 157,289,578 (GRCm39) missense probably benign 0.00
R9667:Cryzl2 UTSW 1 157,316,038 (GRCm39) missense probably benign
Z1088:Cryzl2 UTSW 1 157,293,359 (GRCm39) missense probably benign 0.22
Posted On 2015-04-16