Incidental Mutation 'R7886:Get1'
ID 609087
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 045938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7886 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 95946607-95959052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95946768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 31 (L31Q)
Ref Sequence ENSEMBL: ENSMUSP00000023913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023913]
AlphaFold Q8K0D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000023913
AA Change: L31Q

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023913
Gene: ENSMUSG00000023147
AA Change: L31Q

DomainStartEndE-ValueType
Pfam:CHD5 12 163 1.4e-36 PFAM
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik T G 6: 92,811,437 (GRCm39) I130S unknown Het
Ano5 A G 7: 51,220,141 (GRCm39) H427R probably benign Het
Atad2 A T 15: 57,989,532 (GRCm39) V182E probably damaging Het
B4galnt1 T C 10: 127,002,923 (GRCm39) Y147H probably damaging Het
C1s2 T C 6: 124,605,289 (GRCm39) S349G possibly damaging Het
Ccdc51 G T 9: 108,920,655 (GRCm39) A181S probably damaging Het
Dcc G A 18: 72,087,939 (GRCm39) Q100* probably null Het
Dchs2 A T 3: 83,212,392 (GRCm39) I2064F probably damaging Het
Depdc1a G A 3: 159,221,706 (GRCm39) V217I probably benign Het
Dnajc7 A T 11: 100,492,629 (GRCm39) F31I probably benign Het
Eftud2 C T 11: 102,730,934 (GRCm39) R825H probably damaging Het
Fam184a T C 10: 53,551,256 (GRCm39) E237G probably damaging Het
Fdx2 A T 9: 20,984,623 (GRCm39) probably null Het
Frem1 T C 4: 82,934,643 (GRCm39) D106G possibly damaging Het
Gabrg3 G A 7: 56,374,229 (GRCm39) R446W probably damaging Het
Gm42669 A G 5: 107,656,572 (GRCm39) E362G Het
Hmcn1 A T 1: 150,533,221 (GRCm39) I3022N possibly damaging Het
Ifna2 C A 4: 88,601,506 (GRCm39) V171F probably damaging Het
Igsf10 T C 3: 59,235,748 (GRCm39) N1478D probably benign Het
Kcnc1 C A 7: 46,077,045 (GRCm39) D282E probably damaging Het
Klhdc2 G A 12: 69,351,406 (GRCm39) probably null Het
Macrod2 G A 2: 141,566,565 (GRCm39) G188S probably damaging Het
Mapkbp1 T C 2: 119,843,128 (GRCm39) F186L possibly damaging Het
Mettl21a T C 1: 64,654,343 (GRCm39) E58G probably damaging Het
Muc16 A T 9: 18,497,278 (GRCm39) C6625S probably benign Het
Naip5 A T 13: 100,382,689 (GRCm39) S7T probably benign Het
Nfs1 T A 2: 155,983,981 (GRCm39) D132V unknown Het
Nlgn1 T C 3: 25,490,071 (GRCm39) D552G probably damaging Het
Numa1 C T 7: 101,663,072 (GRCm39) T2066I probably benign Het
Or10k2 T C 8: 84,268,576 (GRCm39) S268P possibly damaging Het
Or2t48 C A 11: 58,419,880 (GRCm39) V311L probably benign Het
Or4k2 A T 14: 50,424,021 (GRCm39) Y219N probably damaging Het
Or7a39 A G 10: 78,715,657 (GRCm39) Y217C possibly damaging Het
Or7g29 A T 9: 19,287,202 (GRCm39) probably null Het
Pde11a C T 2: 76,121,547 (GRCm39) V345I probably benign Het
Pglyrp2 A G 17: 32,637,735 (GRCm39) S98P possibly damaging Het
Pik3c3 C T 18: 30,452,641 (GRCm39) Q643* probably null Het
Pold2 T C 11: 5,822,714 (GRCm39) Y402C probably damaging Het
Pom121 T C 5: 135,410,848 (GRCm39) T770A unknown Het
Pou4f1 A T 14: 104,704,228 (GRCm39) V68E probably damaging Het
Ppfia1 G T 7: 144,073,020 (GRCm39) Q265K probably benign Het
Pygl A G 12: 70,253,130 (GRCm39) probably null Het
Rdh19 A G 10: 127,686,169 (GRCm39) T94A probably benign Het
Scgb1b12 A G 7: 32,033,922 (GRCm39) T61A probably damaging Het
Sirpb1c C T 3: 15,886,366 (GRCm39) A337T probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Tbc1d23 T C 16: 57,009,746 (GRCm39) E381G possibly damaging Het
Tnik A G 3: 28,720,288 (GRCm39) I1304V probably damaging Het
Tpmt C A 13: 47,193,638 (GRCm39) G54C probably damaging Het
Usp25 A T 16: 76,910,659 (GRCm39) Q905L probably damaging Het
Vmn1r91 T A 7: 19,835,490 (GRCm39) N136K probably benign Het
Wdr70 C T 15: 8,108,733 (GRCm39) E138K probably benign Het
Zbed3 A G 13: 95,472,633 (GRCm39) D19G possibly damaging Het
Zfp369 A G 13: 65,439,868 (GRCm39) K184R possibly 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
R7191:Get1 UTSW 16 95,953,145 (GRCm39) missense possibly damaging 0.90
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'- TAAGTAACATCCCATGCTGCCC -3'
(R):5'- TTGTTCCCACGGACAGAACAG -3'

Sequencing Primer
(F):5'- AGTTGACGACGCTGCTC -3'
(R):5'- AGGCACCTGTGAGGATGCTG -3'
Posted On 2019-12-20