Incidental Mutation 'R5604:Insig1'
ID 439172
Institutional Source Beutler Lab
Gene Symbol Insig1
Ensembl Gene ENSMUSG00000045294
Gene Name insulin induced gene 1
Synonyms Insig-1, 1810013C12Rik
MMRRC Submission 043156-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R5604 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 28276410-28283660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28280080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 224 (L224P)
Ref Sequence ENSEMBL: ENSMUSP00000061877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059155]
AlphaFold Q8BGI3
Predicted Effect probably damaging
Transcript: ENSMUST00000059155
AA Change: L224P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061877
Gene: ENSMUSG00000045294
AA Change: L224P

DomainStartEndE-ValueType
Pfam:INSIG 68 249 1.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199728
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,556,278 (GRCm39) N164I possibly damaging Het
4933402J07Rik C A 8: 88,295,125 (GRCm39) R88S possibly damaging Het
Abca1 A T 4: 53,067,168 (GRCm39) probably null Het
Abca13 T A 11: 9,516,279 (GRCm39) I4406K probably damaging Het
Adam6b T A 12: 113,454,420 (GRCm39) Y412* probably null Het
Ahcyl2 C T 6: 29,908,366 (GRCm39) H370Y probably damaging Het
Ahi1 A G 10: 20,862,904 (GRCm39) Y693C probably damaging Het
Anapc4 T A 5: 52,999,076 (GRCm39) Y129* probably null Het
Ankrd35 A G 3: 96,592,215 (GRCm39) T834A probably benign Het
Antxr2 T C 5: 98,096,169 (GRCm39) K372E probably damaging Het
Arhgef1 C T 7: 24,612,210 (GRCm39) H198Y probably benign Het
Barhl2 T C 5: 106,603,412 (GRCm39) E249G probably benign Het
C2cd5 T C 6: 142,957,747 (GRCm39) E987G probably benign Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccser1 C T 6: 61,290,788 (GRCm39) T490M probably damaging Het
Cd8b1 T C 6: 71,303,159 (GRCm39) V78A probably benign Het
Cdc25c A G 18: 34,866,701 (GRCm39) Y374H probably damaging Het
Cmya5 C T 13: 93,229,271 (GRCm39) R1939H probably benign Het
Cyp2d40 A G 15: 82,648,256 (GRCm39) F19S probably damaging Het
Dll3 A G 7: 27,994,057 (GRCm39) V460A probably benign Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
E4f1 A G 17: 24,663,118 (GRCm39) I729T probably damaging Het
Endou A C 15: 97,618,800 (GRCm39) S75A probably benign Het
Epas1 C T 17: 87,113,200 (GRCm39) H129Y probably damaging Het
Grm1 T A 10: 10,622,479 (GRCm39) N415Y probably damaging Het
Hdc A T 2: 126,436,583 (GRCm39) S429R probably benign Het
Hnf4g C T 3: 3,722,186 (GRCm39) Q447* probably null Het
Htr6 C T 4: 138,788,814 (GRCm39) A414T probably benign Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Irak2 T A 6: 113,667,792 (GRCm39) S458T possibly damaging Het
Irs2 A G 8: 11,055,007 (GRCm39) S1142P possibly damaging Het
Kirrel1 T A 3: 86,996,462 (GRCm39) N379I possibly damaging Het
L3mbtl4 T A 17: 69,084,917 (GRCm39) D609E probably benign Het
Lama3 A G 18: 12,572,405 (GRCm39) T537A probably benign Het
Lce1i A T 3: 92,685,056 (GRCm39) V40E unknown Het
Mprip T A 11: 59,649,293 (GRCm39) V999D probably benign Het
Myd88 G T 9: 119,168,829 (GRCm39) T85K possibly damaging Het
Or1e35 T A 11: 73,797,853 (GRCm39) H155L probably benign Het
Padi6 A T 4: 140,458,473 (GRCm39) M473K probably damaging Het
Pcdh12 T A 18: 38,401,935 (GRCm39) S97C probably damaging Het
Pkd1l1 T A 11: 8,783,877 (GRCm39) D2026V probably damaging Het
Plcxd1 T C 5: 110,250,451 (GRCm39) V264A probably benign Het
Plekha4 T C 7: 45,198,580 (GRCm39) S558P probably damaging Het
Ppm1a T A 12: 72,837,455 (GRCm39) M334K probably benign Het
Ppp1r13l T C 7: 19,109,524 (GRCm39) S684P possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prl2a1 T C 13: 27,990,369 (GRCm39) probably benign Het
Ptch1 T C 13: 63,672,936 (GRCm39) K753E probably benign Het
Qrich1 A G 9: 108,436,502 (GRCm39) probably benign Het
Ror2 G A 13: 53,271,201 (GRCm39) R373C probably benign Het
Rtn4 C A 11: 29,658,140 (GRCm39) L765I probably damaging Het
Sema3a T C 5: 13,523,487 (GRCm39) probably null Het
Setd2 T A 9: 110,433,284 (GRCm39) D62E probably damaging Het
Ss18 A T 18: 14,769,577 (GRCm39) Y327N unknown Het
Ticam1 G A 17: 56,578,756 (GRCm39) T113I probably benign Het
Tnrc6a A G 7: 122,773,459 (GRCm39) I1134V probably damaging Het
Top3b T G 16: 16,707,399 (GRCm39) Y526* probably null Het
Tph2 T C 10: 114,926,614 (GRCm39) E384G probably damaging Het
Ttll11 A T 2: 35,707,798 (GRCm39) I503N probably benign Het
Zfp87 T G 13: 67,665,945 (GRCm39) K172N 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
R3738:Insig1 UTSW 5 28,276,701 (GRCm39) missense probably damaging 0.99
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'- TGGGATTACCATCGCCTTCC -3'
(R):5'- TCTATACATCATAACTTAGGGAGGACC -3'

Sequencing Primer
(F):5'- ATCTCTGAGTTCAAGGTGAGCC -3'
(R):5'- GGAGGACCCAGCTAGATACC -3'
Posted On 2016-10-26