Incidental Mutation 'IGL01654:Zfand2a'
ID102933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfand2a
Ensembl Gene ENSMUSG00000053581
Gene Namezinc finger, AN1-type domain 2A
SynonymsAirap
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01654
Quality Score
Status
Chromosome5
Chromosomal Location139471211-139484549 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 139482068 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079996] [ENSMUST00000110851] [ENSMUST00000150992]
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: 146,953,340 E68V probably damaging Het
Abcb1a T C 5: 8,715,065 probably null Het
Abcg2 T A 6: 58,683,321 probably null Het
Adgrf5 T C 17: 43,451,170 I1252T possibly damaging Het
Apol10b A T 15: 77,588,796 D19E probably benign Het
Bbs9 T A 9: 22,490,942 probably null Het
Bod1l T C 5: 41,818,176 T1932A probably damaging Het
C2cd5 A G 6: 143,081,407 V124A probably benign Het
Cd151 T A 7: 141,470,362 I170N probably benign Het
Ckap5 C T 2: 91,577,609 H827Y probably benign Het
Clk3 C T 9: 57,751,763 V572M probably damaging Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Enpp5 A G 17: 44,081,175 D165G possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Fbxw14 T C 9: 109,286,580 probably benign Het
Fes C T 7: 80,386,810 probably null Het
Gemin4 A T 11: 76,213,398 L179H probably damaging Het
Gm3327 A G 14: 44,124,860 E72G unknown Het
Gm4847 C T 1: 166,638,348 R224Q probably damaging Het
Lonp2 T C 8: 86,714,086 V357A probably damaging Het
Mc2r A G 18: 68,408,072 I50T probably benign Het
Mmp19 C T 10: 128,798,520 A310V probably damaging Het
Naip6 C T 13: 100,299,345 R890Q probably benign Het
Npdc1 T C 2: 25,407,637 S101P possibly damaging Het
Phldb1 T C 9: 44,718,357 probably null Het
Pkd2l1 T C 19: 44,154,223 N460S probably damaging Het
Pnpo A G 11: 96,943,729 probably null Het
Prkcq A T 2: 11,283,843 T536S probably damaging Het
Rft1 T A 14: 30,676,880 V269E probably damaging Het
Skint4 A T 4: 112,120,057 I215F probably damaging Het
Slc12a5 G A 2: 164,973,755 D41N possibly damaging Het
Srp68 T C 11: 116,247,812 probably benign Het
Wdr17 T C 8: 54,662,879 T623A probably damaging Het
Zfp644 T C 5: 106,635,930 Y917C probably damaging Het
Zmym6 C T 4: 127,123,726 S1008L probably damaging Het
Other mutations in Zfand2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5111:Zfand2a UTSW 5 139473754 missense probably benign
R6238:Zfand2a UTSW 5 139481991 missense probably damaging 1.00
R7616:Zfand2a UTSW 5 139478566 missense probably damaging 0.99
Z1176:Zfand2a UTSW 5 139473771 missense probably benign 0.34
Posted On2014-01-21