Incidental Mutation 'R5401:Get3'
ID 429994
Institutional Source Beutler Lab
Gene Symbol Get3
Ensembl Gene ENSMUSG00000052456
Gene Name guided entry of tail-anchored proteins factor 3, ATPase
Synonyms Asna1, 1810048H22Rik, ArsA
MMRRC Submission 042972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5401 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 85744560-85751910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85745173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 298 (I298N)
Ref Sequence ENSEMBL: ENSMUSP00000065337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059072] [ENSMUST00000064314] [ENSMUST00000209322] [ENSMUST00000209421]
AlphaFold O54984
Predicted Effect probably benign
Transcript: ENSMUST00000059072
SMART Domains Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 5.8e-118 PFAM
low complexity region 340 352 N/A INTRINSIC
low complexity region 408 417 N/A INTRINSIC
low complexity region 428 447 N/A INTRINSIC
low complexity region 457 479 N/A INTRINSIC
low complexity region 484 501 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000064314
AA Change: I298N

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065337
Gene: ENSMUSG00000052456
AA Change: I298N

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:ArsA_ATPase 37 340 2.2e-127 PFAM
Pfam:CbiA 39 311 5.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209322
Predicted Effect probably benign
Transcript: ENSMUST00000209421
Predicted Effect probably benign
Transcript: ENSMUST00000209834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211702
Meta Mutation Damage Score 0.3888 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null mutation display early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A G 9: 39,962,338 (GRCm39) noncoding transcript Het
1700025H01Rik G T 16: 30,018,801 (GRCm39) noncoding transcript Het
9330159F19Rik T C 10: 29,101,136 (GRCm39) V503A probably benign Het
Acacb A G 5: 114,347,914 (GRCm39) N995S possibly damaging Het
Anapc4 A G 5: 53,020,991 (GRCm39) K630R probably benign Het
Ankrd13a A C 5: 114,930,234 (GRCm39) Q206H probably damaging Het
Ano10 A T 9: 122,090,356 (GRCm39) L319Q probably damaging Het
Camkk2 T A 5: 122,884,398 (GRCm39) D341V probably damaging Het
Ccdc88a A G 11: 29,413,279 (GRCm39) I606V probably benign Het
Cdv3 G T 9: 103,242,316 (GRCm39) probably benign Het
Cep97 A G 16: 55,745,315 (GRCm39) V155A probably benign Het
Cmya5 T C 13: 93,228,476 (GRCm39) E2204G probably damaging Het
Cracr2b A G 7: 141,046,136 (GRCm39) *395W probably null Het
Defa27 A G 8: 21,805,710 (GRCm39) E50G possibly damaging Het
Dnah7a A G 1: 53,670,812 (GRCm39) I480T probably benign Het
Ep400 C A 5: 110,831,037 (GRCm39) D2210Y unknown Het
Fam170a T A 18: 50,413,618 (GRCm39) S28T probably benign Het
Fancc C A 13: 63,550,767 (GRCm39) K18N probably damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fndc8 T G 11: 82,788,676 (GRCm39) S169A possibly damaging Het
Herc1 T C 9: 66,409,338 (GRCm39) Y4688H probably damaging Het
Ighv11-2 A T 12: 114,011,959 (GRCm39) D85E possibly damaging Het
Kat14 T C 2: 144,231,180 (GRCm39) F196L possibly damaging Het
Kctd19 C T 8: 106,109,617 (GRCm39) V942I probably benign Het
Llgl1 A G 11: 60,597,297 (GRCm39) S249G probably benign Het
Map1a T C 2: 121,130,153 (GRCm39) V323A probably damaging Het
Or4m1 C A 14: 50,557,566 (GRCm39) C242F probably damaging Het
Phf21a C A 2: 92,182,097 (GRCm39) T342K possibly damaging Het
Piezo2 T A 18: 63,217,811 (GRCm39) D1122V possibly damaging Het
Pklr A G 3: 89,049,173 (GRCm39) Y173C probably damaging Het
Plcz1 G T 6: 139,938,778 (GRCm39) probably null Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prom1 A T 5: 44,158,147 (GRCm39) Y845N probably damaging Het
Qng1 C A 13: 58,530,405 (GRCm39) A202S probably benign Het
Ret A T 6: 118,158,936 (GRCm39) S159T probably benign Het
Rfx1 C A 8: 84,793,005 (GRCm39) probably null Het
Scp2 A T 4: 108,001,976 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Smarcc2 C A 10: 128,301,373 (GRCm39) D210E probably damaging Het
Sptlc3 T C 2: 139,478,643 (GRCm39) L534P possibly damaging Het
Srrm1 A G 4: 135,051,380 (GRCm39) probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sugct T A 13: 17,032,455 (GRCm39) Q432H probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tsc1 C A 2: 28,576,920 (GRCm39) S1073* probably null Het
Vmn1r72 T C 7: 11,403,843 (GRCm39) S202G probably damaging Het
Vmn2r55 A G 7: 12,385,871 (GRCm39) V703A probably benign Het
Vmn2r67 A T 7: 84,785,765 (GRCm39) Y747N probably damaging Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G probably benign Het
Zswim2 C T 2: 83,755,589 (GRCm39) G104E possibly damaging Het
Other mutations in Get3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Get3 APN 8 85,745,185 (GRCm39) missense possibly damaging 0.64
R0012:Get3 UTSW 8 85,751,725 (GRCm39) splice site probably benign
R0378:Get3 UTSW 8 85,751,893 (GRCm39) start codon destroyed probably null
R0504:Get3 UTSW 8 85,745,236 (GRCm39) missense probably damaging 1.00
R1188:Get3 UTSW 8 85,746,422 (GRCm39) missense probably damaging 1.00
R2001:Get3 UTSW 8 85,751,789 (GRCm39) missense probably damaging 0.96
R2029:Get3 UTSW 8 85,746,403 (GRCm39) nonsense probably null
R2264:Get3 UTSW 8 85,751,887 (GRCm39) unclassified probably benign
R2511:Get3 UTSW 8 85,746,395 (GRCm39) missense possibly damaging 0.79
R4676:Get3 UTSW 8 85,745,502 (GRCm39) missense probably benign 0.01
R6465:Get3 UTSW 8 85,745,194 (GRCm39) missense probably benign 0.01
R7378:Get3 UTSW 8 85,746,492 (GRCm39) missense probably benign 0.24
R8029:Get3 UTSW 8 85,746,456 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAGTAAATCCAGGGATGGC -3'
(R):5'- CTGTCTTGTGCCCTACAGGAAC -3'

Sequencing Primer
(F):5'- TGTCAGGCTTCCCAGTTGAGC -3'
(R):5'- CAGACAACGTTCATCTGTGTG -3'
Posted On 2016-09-06