Incidental Mutation 'R7832:Ergic1'
ID 605742
Institutional Source Beutler Lab
Gene Symbol Ergic1
Ensembl Gene ENSMUSG00000001576
Gene Name endoplasmic reticulum-golgi intermediate compartment 1
Synonyms 1200007D18Rik
MMRRC Submission 045886-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.851) question?
Stock # R7832 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 26780463-26875908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26853449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000132922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167662] [ENSMUST00000170640]
AlphaFold Q9DC16
Predicted Effect probably benign
Transcript: ENSMUST00000167070
SMART Domains Protein: ENSMUSP00000127158
Gene: ENSMUSG00000001576

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 1 80 1.3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167662
AA Change: D145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132922
Gene: ENSMUSG00000001576
AA Change: D145G

DomainStartEndE-ValueType
Pfam:ERGIC_N 5 98 1.1e-39 PFAM
Pfam:COPIIcoated_ERV 95 271 1.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170640
SMART Domains Protein: ENSMUSP00000126282
Gene: ENSMUSG00000001576

DomainStartEndE-ValueType
Pfam:ERGIC_N 1 62 1.1e-13 PFAM
Meta Mutation Damage Score 0.8885 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (78/80)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 G A 5: 135,038,654 (GRCm39) C30Y probably benign Het
Akr1c20 C T 13: 4,562,671 (GRCm39) V95M probably damaging Het
Ano7 A G 1: 93,322,195 (GRCm39) D401G probably benign Het
Arhgef10l G A 4: 140,305,616 (GRCm39) T176I possibly damaging Het
Armc2 A C 10: 41,842,792 (GRCm39) V337G probably damaging Het
Atp6v0d2 T A 4: 19,922,400 (GRCm39) Y33F probably benign Het
Banp A G 8: 122,747,291 (GRCm39) S447G probably benign Het
Car8 T A 4: 8,238,860 (GRCm39) Y32F possibly damaging Het
Ccdc188 C T 16: 18,036,539 (GRCm39) P124S probably damaging Het
Cdc23 A T 18: 34,780,072 (GRCm39) D85E probably benign Het
Cnot6l T C 5: 96,242,084 (GRCm39) E213G possibly damaging Het
Cntnap4 A G 8: 113,484,113 (GRCm39) T389A probably benign Het
Cramp1 A T 17: 25,202,196 (GRCm39) C429S probably damaging Het
Crygn T C 5: 24,961,072 (GRCm39) H78R probably benign Het
D630003M21Rik T A 2: 158,059,588 (GRCm39) D104V probably damaging Het
Dcaf10 T G 4: 45,348,196 (GRCm39) H217Q probably damaging Het
Dmrtb1 C T 4: 107,541,179 (GRCm39) V61M probably benign Het
Dnai1 A G 4: 41,605,823 (GRCm39) E271G probably benign Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Emsy G A 7: 98,289,060 (GRCm39) T79M probably damaging Het
Fah A G 7: 84,244,686 (GRCm39) V229A probably damaging Het
Fam76a G A 4: 132,629,342 (GRCm39) T270I probably damaging Het
Fat4 A T 3: 39,055,353 (GRCm39) M4191L probably benign Het
Fbxl22 G T 9: 66,418,999 (GRCm39) R213S probably benign Het
Fktn T C 4: 53,734,859 (GRCm39) F127L probably benign Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Gabbr2 A T 4: 46,734,096 (GRCm39) S541T probably benign Het
Gm7489 A G 15: 53,749,402 (GRCm39) H158R unknown Het
Greb1l G C 18: 10,542,056 (GRCm39) E1268Q probably benign Het
H2-D1 A G 17: 35,482,848 (GRCm39) D126G probably damaging Het
Ikzf3 T A 11: 98,409,525 (GRCm39) T13S probably benign Het
Il23r T C 6: 67,400,846 (GRCm39) T495A probably benign Het
Insyn2b A G 11: 34,353,034 (GRCm39) T359A probably benign Het
Irf5 A G 6: 29,535,461 (GRCm39) T230A probably benign Het
Itga2b A T 11: 102,348,108 (GRCm39) I831N probably damaging Het
Itgb4 A G 11: 115,891,087 (GRCm39) D1168G probably damaging Het
Kcnma1 G T 14: 23,440,991 (GRCm39) P605Q probably benign Het
Larp7 A T 3: 127,337,916 (GRCm39) M381K possibly damaging Het
Lfng G A 5: 140,598,588 (GRCm39) G269D probably benign Het
Liph T C 16: 21,780,986 (GRCm39) I335V probably benign Het
Map2k2 A T 10: 80,954,040 (GRCm39) I169F possibly damaging Het
Mmrn1 T A 6: 60,964,044 (GRCm39) probably null Het
Nod2 A G 8: 89,387,425 (GRCm39) probably null Het
Or51ag1 A C 7: 103,155,586 (GRCm39) L189R probably damaging Het
Or5b101 T A 19: 13,005,360 (GRCm39) Y111F probably benign Het
Or9s23 T C 1: 92,501,219 (GRCm39) F109L probably benign Het
Pcdh20 G T 14: 88,707,143 (GRCm39) F52L probably null Het
Pkhd1 A T 1: 20,573,223 (GRCm39) N1894K probably damaging Het
Pla2r1 T A 2: 60,334,536 (GRCm39) D412V possibly damaging Het
Pole T G 5: 110,465,663 (GRCm39) M1197R probably benign Het
Pom121l2 C T 13: 22,168,048 (GRCm39) T773I possibly damaging Het
Ppp2r5d A T 17: 46,995,472 (GRCm39) M497K probably benign Het
Rbm45 G T 2: 76,206,797 (GRCm39) V270F possibly damaging Het
Ros1 A T 10: 52,020,957 (GRCm39) F673I probably damaging Het
Rtn4 T A 11: 29,691,048 (GRCm39) L1113* probably null Het
Scn4a A G 11: 106,212,841 (GRCm39) I1388T probably benign Het
Sema3c G A 5: 17,899,845 (GRCm39) V446I probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc35a5 T A 16: 44,964,570 (GRCm39) K221M possibly damaging Het
Slc6a19 A G 13: 73,841,182 (GRCm39) I76T probably damaging Het
Slfn4 A G 11: 83,077,419 (GRCm39) D69G probably damaging Het
Smc6 T C 12: 11,367,844 (GRCm39) F1085L probably benign Het
Spatc1l A G 10: 76,398,224 (GRCm39) S9G probably benign Het
Stx8 T A 11: 68,000,106 (GRCm39) I182N probably damaging Het
Sult2a8 A T 7: 14,147,596 (GRCm39) C232S probably benign Het
Susd4 G A 1: 182,686,070 (GRCm39) A207T probably benign Het
Svep1 G A 4: 58,054,539 (GRCm39) P3350S probably benign Het
Tbx20 A T 9: 24,685,108 (GRCm39) S12T probably damaging Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Umodl1 A T 17: 31,192,666 (GRCm39) probably null Het
Vmn1r201 T C 13: 22,659,538 (GRCm39) F251L possibly damaging Het
Vmn1r230 A G 17: 21,066,933 (GRCm39) T41A probably benign Het
Vmn2r20 A G 6: 123,362,882 (GRCm39) L634P probably damaging Het
Vmn2r81 A T 10: 79,129,664 (GRCm39) R852W probably damaging Het
Wdr41 A T 13: 95,151,701 (GRCm39) N287I probably benign Het
Zfp202 A G 9: 40,121,758 (GRCm39) D285G possibly damaging 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
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
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'- AGCTCCTGTGAGTGTACTGTTC -3'
(R):5'- ATCTCAGTCCGTTGTGTGGC -3'

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