Incidental Mutation 'R7616:Zfand2a'
ID 588906
Institutional Source Beutler Lab
Gene Symbol Zfand2a
Ensembl Gene ENSMUSG00000053581
Gene Name zinc finger, AN1-type domain 2A
Synonyms Airap
MMRRC Submission 045716-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R7616 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 139456971-139470246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 139464321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 61 (N61K)
Ref Sequence ENSEMBL: ENSMUSP00000078910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079996] [ENSMUST00000110851] [ENSMUST00000150992]
AlphaFold Q9JII7
Predicted Effect probably damaging
Transcript: ENSMUST00000079996
AA Change: N61K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078910
Gene: ENSMUSG00000053581
AA Change: N61K

DomainStartEndE-ValueType
ZnF_AN1 10 49 8e-4 SMART
ZnF_AN1 100 139 1.25e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110851
AA Change: N61K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106475
Gene: ENSMUSG00000053581
AA Change: N61K

DomainStartEndE-ValueType
ZnF_AN1 10 49 8e-4 SMART
ZnF_AN1 100 139 1.25e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150992
AA Change: N61K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123097
Gene: ENSMUSG00000053581
AA Change: N61K

DomainStartEndE-ValueType
Pfam:zf-AN1 10 52 1.7e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A G 9: 55,896,738 (GRCm39) F290S probably benign Het
4931414P19Rik T C 14: 54,823,123 (GRCm39) D358G probably damaging Het
A630089N07Rik T A 16: 97,867,410 (GRCm39) Q184L probably damaging Het
Adam10 A G 9: 70,629,993 (GRCm39) R142G possibly damaging Het
Adgrb1 A G 15: 74,420,418 (GRCm39) T856A probably damaging Het
Angel1 A G 12: 86,764,510 (GRCm39) S493P probably benign Het
Arid1b C G 17: 5,045,661 (GRCm39) P150A unknown Het
Atp8b5 T A 4: 43,370,823 (GRCm39) probably null Het
Cbfa2t3 T G 8: 123,360,076 (GRCm39) Q525P possibly damaging Het
Clip4 T C 17: 72,141,268 (GRCm39) Y541H probably benign Het
Cracr2a C T 6: 127,585,660 (GRCm39) Q153* probably null Het
Dsp G T 13: 38,375,458 (GRCm39) C1081F probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Etv1 T A 12: 38,915,605 (GRCm39) M424K probably damaging Het
Fam120b T G 17: 15,623,098 (GRCm39) S359A possibly damaging Het
Ffar2 A G 7: 30,519,357 (GRCm39) L61P probably damaging Het
Grm5 A T 7: 87,765,409 (GRCm39) D879V probably benign Het
Itpr3 C A 17: 27,307,951 (GRCm39) A246E probably damaging Het
Kmt2b G T 7: 30,281,633 (GRCm39) P1207Q probably damaging Het
Mamdc2 T A 19: 23,328,168 (GRCm39) Y400F probably damaging Het
Mtcl3 T C 10: 29,022,574 (GRCm39) probably benign Het
Muc4 T A 16: 32,574,161 (GRCm39) Y746* probably null Het
Mylk T C 16: 34,699,927 (GRCm39) F430S probably damaging Het
Nek10 G A 14: 14,937,759 (GRCm38) C826Y probably benign Het
Nf1 T A 11: 79,275,092 (GRCm39) F51Y probably damaging Het
Or10ag55-ps1 T C 2: 87,115,617 (GRCm39) *328Q probably null Het
Phf2 T A 13: 48,961,083 (GRCm39) Y869F unknown Het
Psmb7 T C 2: 38,523,976 (GRCm39) Y133C possibly damaging Het
Ptcd2 G A 13: 99,481,207 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slbp A T 5: 33,801,210 (GRCm39) I167N probably damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Snap91 T A 9: 86,721,674 (GRCm39) N55I probably damaging Het
Stat4 A T 1: 52,053,037 (GRCm39) K73* probably null Het
Sult2a5 G A 7: 13,404,607 (GRCm39) M281I probably benign Het
Tenm3 A T 8: 48,794,084 (GRCm39) M647K possibly damaging Het
Trim66 T A 7: 109,082,956 (GRCm39) D162V probably damaging Het
Vangl1 A T 3: 102,091,381 (GRCm39) I235N probably damaging Het
Vmn1r175 T A 7: 23,508,031 (GRCm39) I199F possibly damaging Het
Vmn1r72 A G 7: 11,404,272 (GRCm39) S59P probably damaging Het
Wdr25 G A 12: 108,958,819 (GRCm39) G344S possibly damaging Het
Other mutations in Zfand2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01654:Zfand2a APN 5 139,467,823 (GRCm39) splice site probably benign
R5111:Zfand2a UTSW 5 139,459,509 (GRCm39) missense probably benign
R6238:Zfand2a UTSW 5 139,467,746 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGTCAGCACGCCACACTTAG -3'
(R):5'- CTTTGGCTCTAAGGGGTCAG -3'

Sequencing Primer
(F):5'- AGCACAGAGTCCTCAGTTTG -3'
(R):5'- CTAAGGGGTCAGGTGGGTCC -3'
Posted On 2019-10-24