Incidental Mutation 'IGL02312:Ergic1'
ID 287858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ergic1
Ensembl Gene ENSMUSG00000001576
Gene Name endoplasmic reticulum-golgi intermediate compartment 1
Synonyms 1200007D18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.851) question?
Stock # IGL02312
Quality Score
Status
Chromosome 17
Chromosomal Location 26780463-26875908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26848601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 108 (P108Q)
Ref Sequence ENSEMBL: ENSMUSP00000132922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167662] [ENSMUST00000170640]
AlphaFold Q9DC16
Predicted Effect noncoding transcript
Transcript: ENSMUST00000001619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165911
Predicted Effect probably damaging
Transcript: ENSMUST00000167662
AA Change: P108Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132922
Gene: ENSMUSG00000001576
AA Change: P108Q

DomainStartEndE-ValueType
Pfam:ERGIC_N 5 98 1.1e-39 PFAM
Pfam:COPIIcoated_ERV 95 271 1.2e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170640
AA Change: P67Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126282
Gene: ENSMUSG00000001576
AA Change: P67Q

DomainStartEndE-ValueType
Pfam:ERGIC_N 1 62 1.1e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,060,369 (GRCm39) V454E probably damaging Het
Atp7b G T 8: 22,484,786 (GRCm39) Q1424K probably damaging Het
Bicra T C 7: 15,727,066 (GRCm39) D30G possibly damaging Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Clint1 C T 11: 45,784,883 (GRCm39) T294M probably damaging Het
Cntnap5c C T 17: 58,445,694 (GRCm39) T578I probably benign Het
Col12a1 G T 9: 79,588,797 (GRCm39) T1106N probably damaging Het
Csta3 A G 16: 36,030,847 (GRCm39) probably benign Het
Dnah10 A G 5: 124,896,430 (GRCm39) Y3598C probably damaging Het
Dnaja3 A G 16: 4,512,300 (GRCm39) T235A probably benign Het
Eif2s1 T C 12: 78,926,790 (GRCm39) I180T probably damaging Het
Fat2 T A 11: 55,161,085 (GRCm39) D3215V probably damaging Het
Galnt17 A T 5: 131,335,371 (GRCm39) I23N probably benign Het
Gpr20 C T 15: 73,568,275 (GRCm39) R38Q probably benign Het
Grin2b T C 6: 135,716,088 (GRCm39) D743G probably damaging Het
H2-T5 T C 17: 36,476,299 (GRCm39) I350V probably benign Het
Hmbs A G 9: 44,252,510 (GRCm39) probably null Het
Hunk T C 16: 90,272,829 (GRCm39) Y302H probably damaging Het
Mybph A T 1: 134,125,188 (GRCm39) I239F probably damaging Het
Ncoa3 G A 2: 165,899,120 (GRCm39) A821T probably benign Het
Nf1 A G 11: 79,335,474 (GRCm39) I979V possibly damaging Het
Or5w14 T C 2: 87,541,353 (GRCm39) E299G probably benign Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pdilt G A 7: 119,118,890 (GRCm39) T53M probably benign Het
Pdlim1 T C 19: 40,211,505 (GRCm39) T263A probably benign Het
Pik3cg A T 12: 32,244,820 (GRCm39) M878K possibly damaging Het
Plod1 T C 4: 148,010,614 (GRCm39) K279R probably benign Het
Plxna4 T C 6: 32,142,052 (GRCm39) T1602A possibly damaging Het
Rb1cc1 T A 1: 6,335,847 (GRCm39) probably null Het
Rnls G A 19: 33,145,783 (GRCm39) T112I probably benign Het
Ropn1 G A 16: 34,497,647 (GRCm39) V180I probably benign Het
Rptor T C 11: 119,737,741 (GRCm39) Y605H possibly damaging Het
Sidt2 T C 9: 45,858,299 (GRCm39) Y80C probably benign Het
Slit1 A T 19: 41,590,119 (GRCm39) V1389E possibly damaging Het
Spz1 G A 13: 92,712,393 (GRCm39) P28S probably benign Het
Sult1c2 T A 17: 54,269,458 (GRCm39) M257L probably benign Het
Tent2 C T 13: 93,312,041 (GRCm39) V220I probably benign Het
Tm2d3 T C 7: 65,348,917 (GRCm39) probably null Het
Uqcr10 T C 11: 4,654,153 (GRCm39) probably null Het
Other mutations in Ergic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1157:Ergic1 UTSW 17 26,833,369 (GRCm39) missense probably damaging 1.00
R1536:Ergic1 UTSW 17 26,860,680 (GRCm39) critical splice donor site probably null
R2147:Ergic1 UTSW 17 26,855,024 (GRCm39) splice site probably null
R2200:Ergic1 UTSW 17 26,860,566 (GRCm39) missense possibly damaging 0.82
R4721:Ergic1 UTSW 17 26,857,750 (GRCm39) missense probably damaging 1.00
R4897:Ergic1 UTSW 17 26,848,597 (GRCm39) missense probably benign 0.00
R5523:Ergic1 UTSW 17 26,843,580 (GRCm39) missense probably damaging 1.00
R5526:Ergic1 UTSW 17 26,843,652 (GRCm39) missense probably damaging 1.00
R5646:Ergic1 UTSW 17 26,833,332 (GRCm39) missense probably damaging 1.00
R7015:Ergic1 UTSW 17 26,873,853 (GRCm39) intron probably benign
R7182:Ergic1 UTSW 17 26,873,856 (GRCm39) missense
R7323:Ergic1 UTSW 17 26,860,644 (GRCm39) missense probably damaging 1.00
R7763:Ergic1 UTSW 17 26,857,801 (GRCm39) missense possibly damaging 0.88
R7832:Ergic1 UTSW 17 26,853,449 (GRCm39) missense probably damaging 1.00
R8405:Ergic1 UTSW 17 26,874,096 (GRCm39) missense probably damaging 1.00
R9618:Ergic1 UTSW 17 26,827,619 (GRCm39) missense probably damaging 1.00
R9694:Ergic1 UTSW 17 26,843,585 (GRCm39) missense probably benign 0.25
Z1177:Ergic1 UTSW 17 26,873,861 (GRCm39) missense
Posted On 2015-04-16