Incidental Mutation 'IGL01654:Zfand2a'
ID 102933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfand2a
Ensembl Gene ENSMUSG00000053581
Gene Name zinc finger, AN1-type domain 2A
Synonyms Airap
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.446) question?
Stock # IGL01654
Quality Score
Status
Chromosome 5
Chromosomal Location 139456971-139470246 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 139467823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079996] [ENSMUST00000110851] [ENSMUST00000150992]
AlphaFold Q9JII7
Predicted Effect probably benign
Transcript: ENSMUST00000079996
SMART Domains Protein: ENSMUSP00000078910
Gene: ENSMUSG00000053581

DomainStartEndE-ValueType
ZnF_AN1 10 49 8e-4 SMART
ZnF_AN1 100 139 1.25e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110851
SMART Domains Protein: ENSMUSP00000106475
Gene: ENSMUSG00000053581

DomainStartEndE-ValueType
ZnF_AN1 10 49 8e-4 SMART
ZnF_AN1 100 139 1.25e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143889
Predicted Effect probably benign
Transcript: ENSMUST00000150992
SMART Domains Protein: ENSMUSP00000123097
Gene: ENSMUSG00000053581

DomainStartEndE-ValueType
Pfam:zf-AN1 10 52 1.7e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mouse embryonic fibroblasts accumulate more polyubiquitylated proteins than wild-type cells and display higher levels of stress when exposed to arsenite, while isolated proteasomes are relatively impaired in substrate degradation in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,838 (GRCm39) E68V probably damaging Het
Abcb1a T C 5: 8,765,065 (GRCm39) probably null Het
Abcg2 T A 6: 58,660,306 (GRCm39) probably null Het
Adgrf5 T C 17: 43,762,061 (GRCm39) I1252T possibly damaging Het
Apol10b A T 15: 77,472,996 (GRCm39) D19E probably benign Het
Bbs9 T A 9: 22,402,238 (GRCm39) probably null Het
Bod1l T C 5: 41,975,519 (GRCm39) T1932A probably damaging Het
C2cd5 A G 6: 143,027,133 (GRCm39) V124A probably benign Het
Cd151 T A 7: 141,050,275 (GRCm39) I170N probably benign Het
Ckap5 C T 2: 91,407,954 (GRCm39) H827Y probably benign Het
Clk3 C T 9: 57,659,046 (GRCm39) V572M probably damaging Het
Ddrgk1 T C 2: 130,496,629 (GRCm39) D245G probably damaging Het
Enpp5 A G 17: 44,392,066 (GRCm39) D165G possibly damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Fbxw14 T C 9: 109,115,648 (GRCm39) probably benign Het
Fes C T 7: 80,036,558 (GRCm39) probably null Het
Gemin4 A T 11: 76,104,224 (GRCm39) L179H probably damaging Het
Gm3327 A G 14: 44,362,317 (GRCm39) E72G unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Lonp2 T C 8: 87,440,714 (GRCm39) V357A probably damaging Het
Mc2r A G 18: 68,541,143 (GRCm39) I50T probably benign Het
Mmp19 C T 10: 128,634,389 (GRCm39) A310V probably damaging Het
Naip6 C T 13: 100,435,853 (GRCm39) R890Q probably benign Het
Npdc1 T C 2: 25,297,649 (GRCm39) S101P possibly damaging Het
Phldb1 T C 9: 44,629,654 (GRCm39) probably null Het
Pkd2l1 T C 19: 44,142,662 (GRCm39) N460S probably damaging Het
Pnpo A G 11: 96,834,555 (GRCm39) probably null Het
Prkcq A T 2: 11,288,654 (GRCm39) T536S probably damaging Het
Rft1 T A 14: 30,398,837 (GRCm39) V269E probably damaging Het
Skint4 A T 4: 111,977,254 (GRCm39) I215F probably damaging Het
Slc12a5 G A 2: 164,815,675 (GRCm39) D41N possibly damaging Het
Srp68 T C 11: 116,138,638 (GRCm39) probably benign Het
Wdr17 T C 8: 55,115,914 (GRCm39) T623A probably damaging Het
Zfp644 T C 5: 106,783,796 (GRCm39) Y917C probably damaging Het
Zmym6 C T 4: 127,017,519 (GRCm39) S1008L probably damaging Het
Other mutations in Zfand2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5111:Zfand2a UTSW 5 139,459,509 (GRCm39) missense probably benign
R6238:Zfand2a UTSW 5 139,467,746 (GRCm39) missense probably damaging 1.00
R7616:Zfand2a UTSW 5 139,464,321 (GRCm39) missense probably damaging 0.99
R8515:Zfand2a UTSW 5 139,459,546 (GRCm39) missense probably benign
R8728:Zfand2a UTSW 5 139,467,753 (GRCm39) missense possibly damaging 0.84
R8827:Zfand2a UTSW 5 139,460,607 (GRCm39) critical splice donor site probably null
Z1176:Zfand2a UTSW 5 139,459,526 (GRCm39) missense probably benign 0.34
Posted On 2014-01-21