Incidental Mutation 'R4028:Get1'
ID 313108
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4028 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 95946607-95959052 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 95946784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023913] [ENSMUST00000135448]
AlphaFold Q8K0D7
Predicted Effect probably null
Transcript: ENSMUST00000023913
SMART Domains Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147

DomainStartEndE-ValueType
Pfam:CHD5 12 163 1.4e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129569
Predicted Effect silent
Transcript: ENSMUST00000135448
SMART Domains Protein: ENSMUSP00000122059
Gene: ENSMUSG00000023147

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
low complexity region 39 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140476
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 A T 7: 133,531,725 (GRCm39) N503K probably damaging Het
Anapc2 T A 2: 25,167,750 (GRCm39) I439N probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Birc2 T C 9: 7,819,352 (GRCm39) N520S probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Clec1b G A 6: 129,378,774 (GRCm39) R87H probably benign Het
Cox7a2l A G 17: 83,810,069 (GRCm39) I123T probably benign Het
Cyp2j5 A T 4: 96,529,653 (GRCm39) Y239* probably null Het
Dnajc6 G A 4: 101,474,054 (GRCm39) C485Y probably damaging Het
Dync1i1 C T 6: 5,961,842 (GRCm39) S341F probably damaging Het
Fbln1 A G 15: 85,111,317 (GRCm39) N157S probably benign Het
Gpatch2 A G 1: 186,958,337 (GRCm39) S231G possibly damaging Het
Grin2b T C 6: 135,713,433 (GRCm39) D816G probably damaging Het
Kndc1 T A 7: 139,509,941 (GRCm39) F1261Y probably damaging Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Ntrk3 T C 7: 77,842,458 (GRCm39) E790G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4c3 T C 2: 89,851,567 (GRCm39) N281S probably damaging Het
Or52k2 A T 7: 102,254,500 (GRCm39) D313V possibly damaging Het
Pibf1 A G 14: 99,416,777 (GRCm39) E450G probably damaging Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Pkdrej A T 15: 85,701,693 (GRCm39) N1414K probably benign Het
Pld2 A G 11: 70,445,731 (GRCm39) N655S probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slc28a3 T C 13: 58,758,570 (GRCm39) S18G probably benign Het
Slc7a1 C A 5: 148,282,622 (GRCm39) C75F probably benign Het
Snrnp200 A G 2: 127,079,486 (GRCm39) D1865G probably damaging Het
Tnrc6a T A 7: 122,769,344 (GRCm39) I378N probably damaging Het
Trim3 A G 7: 105,267,452 (GRCm39) V309A probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Zdhhc11 T C 13: 74,125,390 (GRCm39) L210P 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
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
R7191:Get1 UTSW 16 95,953,145 (GRCm39) missense possibly damaging 0.90
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'- AAGTAACATCCCATGCTGCC -3'
(R):5'- TGTTCCCACGGACAGAACAG -3'

Sequencing Primer
(F):5'- AGTTGACGACGCTGCTC -3'
(R):5'- AGGCACCTGTGAGGATGCTG -3'
Posted On 2015-04-30