Incidental Mutation 'R0378:Get3'
ID 36471
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 038584-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0378 (G1)
Quality Score 196
Status Not validated
Chromosome 8
Chromosomal Location 85744560-85751910 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 85751893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000065337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047281] [ENSMUST00000064314]
AlphaFold O54984
Predicted Effect probably benign
Transcript: ENSMUST00000047281
SMART Domains Protein: ENSMUSP00000044129
Gene: ENSMUSG00000041203

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
low complexity region 34 52 N/A INTRINSIC
low complexity region 70 108 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000064314
AA Change: M1K
SMART Domains Protein: ENSMUSP00000065337
Gene: ENSMUSG00000052456
AA Change: M1K

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 null
Transcript: ENSMUST00000209834
AA Change: M1K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211702
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,469,749 (GRCm39) R651L probably damaging Het
Amd1 T C 10: 40,165,380 (GRCm39) D317G possibly damaging Het
Artn A G 4: 117,784,815 (GRCm39) probably benign Het
Bub1b T A 2: 118,471,604 (GRCm39) V988E probably benign Het
Cyp2c65 G T 19: 39,061,662 (GRCm39) C216F probably benign Het
Cyp3a11 T C 5: 145,805,417 (GRCm39) E200G probably benign Het
Cyp3a25 T A 5: 145,923,652 (GRCm39) K330N probably damaging Het
Duox2 C A 2: 122,115,064 (GRCm39) V1138L probably benign Het
Erc2 A G 14: 27,733,651 (GRCm39) D567G probably damaging Het
Eri2 A G 7: 119,393,139 (GRCm39) probably null Het
Foxa3 A G 7: 18,757,294 (GRCm39) Y17H probably damaging Het
Fto T C 8: 92,200,940 (GRCm39) S324P probably damaging Het
Gls2 T G 10: 128,043,180 (GRCm39) L457R probably benign Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Gtf3c1 G A 7: 125,246,786 (GRCm39) R1508* probably null Het
Kif21a T C 15: 90,853,977 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lgr5 T C 10: 115,290,404 (GRCm39) D456G probably damaging Het
Mau2 A G 8: 70,483,305 (GRCm39) S186P probably damaging Het
Msr1 T C 8: 40,042,423 (GRCm39) D384G possibly damaging Het
Ncf4 T C 15: 78,137,503 (GRCm39) V93A probably damaging Het
Oas1f T G 5: 120,994,489 (GRCm39) C337G probably damaging Het
Or10al3 A G 17: 38,011,932 (GRCm39) M124V probably damaging Het
Or5p58 A T 7: 107,694,429 (GRCm39) F116Y probably benign Het
Or6c33 T A 10: 129,853,872 (GRCm39) L214H probably damaging Het
Pwwp3a C A 10: 80,074,713 (GRCm39) probably null Het
Rasl10b T C 11: 83,309,519 (GRCm39) S159P probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smg8 C A 11: 86,971,249 (GRCm39) D841Y probably damaging Het
Sox7 T C 14: 64,181,398 (GRCm39) V65A probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Srsf10 A G 4: 135,590,501 (GRCm39) Y142C possibly damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcerg1l A G 7: 137,878,384 (GRCm39) V326A probably benign Het
Tcl1b5 T A 12: 105,145,326 (GRCm39) W97R probably damaging Het
Tmem108 T C 9: 103,376,856 (GRCm39) R198G possibly damaging Het
Ube2ql1 T A 13: 69,887,017 (GRCm39) Q148L possibly damaging Het
Vmn1r5 A T 6: 56,962,570 (GRCm39) I82L probably benign Het
Wdr6 A T 9: 108,453,063 (GRCm39) S273R probably damaging Het
Ylpm1 C T 12: 85,043,850 (GRCm39) probably benign Het
Zfp90 G A 8: 107,152,138 (GRCm39) R617Q 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
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
R5401:Get3 UTSW 8 85,745,173 (GRCm39) missense possibly damaging 0.56
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'- TTTGGTCCAGTGGTACATCCCACC -3'
(R):5'- GCCCAATCAGTGAAGAGCAGTAGTC -3'

Sequencing Primer
(F):5'- GGTACATCCCACCCGTCC -3'
(R):5'- TTCACAAAGGTGAGCCCTTG -3'
Posted On 2013-05-09