Incidental Mutation 'R2200:Ergic1'
ID 238626
Institutional Source Beutler Lab
Gene Symbol Ergic1
Ensembl Gene ENSMUSG00000001576
Gene Name endoplasmic reticulum-golgi intermediate compartment 1
Synonyms 1200007D18Rik
MMRRC Submission 040202-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R2200 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26780463-26875908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26860566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 218 (A218D)
Ref Sequence ENSEMBL: ENSMUSP00000132922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167662]
AlphaFold Q9DC16
Predicted Effect noncoding transcript
Transcript: ENSMUST00000001619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165802
Predicted Effect unknown
Transcript: ENSMUST00000167070
AA Change: A36D
SMART Domains Protein: ENSMUSP00000127158
Gene: ENSMUSG00000001576
AA Change: A36D

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 1 80 1.3e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167662
AA Change: A218D

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132922
Gene: ENSMUSG00000001576
AA Change: A218D

DomainStartEndE-ValueType
Pfam:ERGIC_N 5 98 1.1e-39 PFAM
Pfam:COPIIcoated_ERV 95 271 1.2e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
B3gat2 C T 1: 23,801,873 (GRCm39) P53L probably benign Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Eva1a A G 6: 82,068,894 (GRCm39) R74G probably benign Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Fus T A 7: 127,576,400 (GRCm39) N273K probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mrpl35 A C 6: 71,794,723 (GRCm39) L82V probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Sec22a A T 16: 35,134,527 (GRCm39) V285E probably damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign Het
Other mutations in Ergic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02312:Ergic1 APN 17 26,848,601 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TCCCATAGTTGAAGGGACCC -3'
(R):5'- GTCAGAGAATCAAAGCCACCTG -3'

Sequencing Primer
(F):5'- GACCCAGCGTGCTTTCACTATG -3'
(R):5'- AGGCTCCATCTGCTTCCAG -3'
Posted On 2014-10-02