Incidental Mutation 'R7191:Get1'
ID 559618
Institutional Source Beutler Lab
Gene Symbol Get1
Ensembl Gene ENSMUSG00000023147
Gene Name guided entry of tail-anchored proteins factor 1
Synonyms Chd5, C030018G21Rik, Wrb, 5530402J05Rik
MMRRC Submission 045274-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7191 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95946607-95959052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95953145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 79 (I79V)
Ref Sequence ENSEMBL: ENSMUSP00000023913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023913]
AlphaFold Q8K0D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000023913
AA Change: I79V

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147
AA Change: I79V

DomainStartEndE-ValueType
Pfam:CHD5 12 163 1.4e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrome congenital heart disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,472,314 (GRCm39) I129F probably benign Het
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Ank2 T A 3: 126,740,041 (GRCm39) T1948S unknown Het
Arap1 T C 7: 101,034,199 (GRCm39) C214R probably benign Het
Ccdc82 C T 9: 13,252,097 (GRCm39) Q130* probably null Het
Cfh A C 1: 140,040,305 (GRCm39) V597G probably benign Het
Clp1 A T 2: 84,554,490 (GRCm39) C226* probably null Het
Cyp39a1 G A 17: 44,041,910 (GRCm39) W372* probably null Het
Dchs1 G A 7: 105,414,646 (GRCm39) P799S possibly damaging Het
Dmbt1 A T 7: 130,646,250 (GRCm39) N167I unknown Het
Dock10 A G 1: 80,518,048 (GRCm39) S1310P possibly damaging Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Fras1 A G 5: 96,762,771 (GRCm39) T758A probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gcg C G 2: 62,307,183 (GRCm39) G126A probably damaging Het
Gne T C 4: 44,040,266 (GRCm39) K633E probably benign Het
Gpr4 T C 7: 18,957,155 (GRCm39) V359A probably benign Het
Gprc5c C T 11: 114,759,443 (GRCm39) T422M possibly damaging Het
Gria2 C A 3: 80,639,392 (GRCm39) V207L probably benign Het
Hid1 T C 11: 115,239,295 (GRCm39) *789W probably null Het
Iigp1c A T 18: 60,379,329 (GRCm39) D288V probably benign Het
Jakmip3 G A 7: 138,591,257 (GRCm39) probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Krt16 T C 11: 100,137,484 (GRCm39) E407G probably damaging Het
Krt81 T C 15: 101,358,110 (GRCm39) D381G probably damaging Het
Lrrc34 C T 3: 30,679,027 (GRCm39) G357S possibly damaging Het
Lypd11 C T 7: 24,422,759 (GRCm39) V105I possibly damaging Het
Mipol1 A G 12: 57,503,852 (GRCm39) Q340R probably benign Het
Mpzl3 T G 9: 44,966,542 (GRCm39) M1R probably null Het
Nrcam A G 12: 44,619,027 (GRCm39) N852S probably benign Het
Nudcd2 C T 11: 40,627,430 (GRCm39) Q117* probably null Het
Nup35 A T 2: 80,488,723 (GRCm39) E320V probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or5p56 G A 7: 107,589,853 (GRCm39) V94M possibly damaging Het
Pkhd1 T C 1: 20,628,943 (GRCm39) H668R probably benign Het
Ptprc T A 1: 138,028,782 (GRCm39) D333V probably benign Het
Rdh16 A G 10: 127,649,287 (GRCm39) K248E probably benign Het
Samd4b C A 7: 28,113,686 (GRCm39) G93V probably benign Het
Scgn A G 13: 24,165,476 (GRCm39) I78T probably benign Het
Slfn14 T C 11: 83,167,575 (GRCm39) I647V probably benign Het
Smyd5 T C 6: 85,417,093 (GRCm39) V157A probably benign Het
Syde2 T C 3: 145,708,113 (GRCm39) M951T probably benign Het
Tas2r105 T C 6: 131,663,945 (GRCm39) N161S probably damaging Het
Tbck T C 3: 132,443,316 (GRCm39) F581L probably damaging Het
Traip A G 9: 107,847,216 (GRCm39) N352D probably benign Het
Trim29 A G 9: 43,222,906 (GRCm39) Y245C probably damaging Het
Trpv4 T C 5: 114,771,201 (GRCm39) I443V probably benign Het
Usp36 C T 11: 118,159,660 (GRCm39) E595K probably benign Het
Vmn2r51 T A 7: 9,834,480 (GRCm39) Y186F probably null Het
Vmn2r97 A G 17: 19,150,548 (GRCm39) Y465C probably damaging Het
Zfp277 A T 12: 40,379,561 (GRCm39) H324Q probably damaging Het
Zfp987 A G 4: 146,058,473 (GRCm39) D17G probably damaging Het
Other mutations in Get1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0413:Get1 UTSW 16 95,954,217 (GRCm39) missense probably benign 0.03
R0740:Get1 UTSW 16 95,946,798 (GRCm39) intron probably benign
R4028:Get1 UTSW 16 95,946,784 (GRCm39) splice site probably null
R4170:Get1 UTSW 16 95,954,176 (GRCm39) missense probably benign
R4508:Get1 UTSW 16 95,946,899 (GRCm39) intron probably benign
R6021:Get1 UTSW 16 95,946,878 (GRCm39) intron probably benign
R7886:Get1 UTSW 16 95,946,768 (GRCm39) missense possibly damaging 0.73
R9095:Get1 UTSW 16 95,954,244 (GRCm39) splice site probably benign
R9161:Get1 UTSW 16 95,953,139 (GRCm39) missense probably damaging 0.99
R9188:Get1 UTSW 16 95,955,363 (GRCm39) missense probably benign 0.00
R9244:Get1 UTSW 16 95,955,383 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCATGTATCCGGAACACAC -3'
(R):5'- TGGCTCTGAAGAAAAGTCTACAAG -3'

Sequencing Primer
(F):5'- GGAACACACACCGATGCCG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2019-06-26