Incidental Mutation 'R3738:Insig1'
ID 270226
Institutional Source Beutler Lab
Gene Symbol Insig1
Ensembl Gene ENSMUSG00000045294
Gene Name insulin induced gene 1
Synonyms Insig-1, 1810013C12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R3738 (G1)
Quality Score 209
Status Validated
Chromosome 5
Chromosomal Location 28276410-28283660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28276701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 89 (I89N)
Ref Sequence ENSEMBL: ENSMUSP00000061877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059155]
AlphaFold Q8BGI3
Predicted Effect probably damaging
Transcript: ENSMUST00000059155
AA Change: I89N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000061877
Gene: ENSMUSG00000045294
AA Change: I89N

DomainStartEndE-ValueType
Pfam:INSIG 68 249 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199728
Meta Mutation Damage Score 0.5922 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body body weight, increased gonadal and subcutaneous fat pad, decreased circulating triglyceride level and abnormal adipocity differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ankrd11 A G 8: 123,623,454 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Atp8b1 A G 18: 64,666,800 (GRCm39) probably benign Het
Camk2d A G 3: 126,565,488 (GRCm39) D136G probably damaging Het
Capn3 G A 2: 120,315,768 (GRCm39) D227N possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Dlgap3 A G 4: 127,089,399 (GRCm39) T332A probably damaging Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Fbxw18 T A 9: 109,517,981 (GRCm39) Y335F possibly damaging Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Itpkc T A 7: 26,927,029 (GRCm39) D295V possibly damaging Het
Jak1 T C 4: 101,048,665 (GRCm39) probably benign Het
Kctd9 G A 14: 67,971,737 (GRCm39) D157N possibly damaging Het
Kmt2c A C 5: 25,610,381 (GRCm39) F242V probably benign Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Lin54 T C 5: 100,607,665 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Myh9 G A 15: 77,651,012 (GRCm39) R1612C probably damaging Het
Nr1d2 T A 14: 18,211,804 (GRCm38) N433I possibly damaging Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Or4c112 T C 2: 88,853,954 (GRCm39) Y131C probably damaging Het
Or4l15 T C 14: 50,198,013 (GRCm39) N172S possibly damaging Het
Pld4 T C 12: 112,734,469 (GRCm39) I410T probably benign Het
Pnma8b C T 7: 16,680,521 (GRCm39) H502Y probably benign Het
Pramel12 T C 4: 143,143,212 (GRCm39) probably benign Het
Rbbp8nl G T 2: 179,923,041 (GRCm39) T184K probably benign Het
Saa4 T A 7: 46,379,053 (GRCm39) N96Y possibly damaging Het
Serpinb6d T A 13: 33,851,663 (GRCm39) V140E probably damaging Het
Ska3 A T 14: 58,049,053 (GRCm39) M306K probably benign Het
Slfn4 T C 11: 83,076,137 (GRCm39) M1T probably null Het
Sorcs1 T C 19: 50,139,659 (GRCm39) I1168V probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Trim9 T C 12: 70,297,969 (GRCm39) T579A probably damaging Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ube2j1 A T 4: 33,036,723 (GRCm39) M16L probably benign Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn2r62 G A 7: 42,437,311 (GRCm39) P391L probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in Insig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1607:Insig1 UTSW 5 28,276,706 (GRCm39) missense probably damaging 1.00
R2006:Insig1 UTSW 5 28,276,464 (GRCm39) missense probably benign
R5604:Insig1 UTSW 5 28,280,080 (GRCm39) missense probably damaging 1.00
R6560:Insig1 UTSW 5 28,276,531 (GRCm39) nonsense probably null
R7429:Insig1 UTSW 5 28,280,077 (GRCm39) missense probably damaging 1.00
R8534:Insig1 UTSW 5 28,280,116 (GRCm39) missense probably damaging 1.00
R9094:Insig1 UTSW 5 28,278,570 (GRCm39) nonsense probably null
R9696:Insig1 UTSW 5 28,279,546 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCACGTCTGGAACTATCC -3'
(R):5'- CTTGTAACAAGGGTGACTTTAACAG -3'

Sequencing Primer
(F):5'- AACTATCCAAGCGCGGGC -3'
(R):5'- GACTTTAACAGCTGACGTGTC -3'
Posted On 2015-03-18