Incidental Mutation 'R5523:Ergic1'
ID431712
Institutional Source Beutler Lab
Gene Symbol Ergic1
Ensembl Gene ENSMUSG00000001576
Gene Nameendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
Synonyms
MMRRC Submission 043265-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.712) question?
Stock #R5523 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location26561489-26656931 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26624606 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 17 (V17I)
Ref Sequence ENSEMBL: ENSMUSP00000126282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167662] [ENSMUST00000170640]
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: V58I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132922
Gene: ENSMUSG00000001576
AA Change: V58I

DomainStartEndE-ValueType
Pfam:ERGIC_N 5 98 1.1e-39 PFAM
Pfam:COPIIcoated_ERV 95 271 1.2e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170640
AA Change: V17I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126282
Gene: ENSMUSG00000001576
AA Change: V17I

DomainStartEndE-ValueType
Pfam:ERGIC_N 1 62 1.1e-13 PFAM
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,938,636 T70M probably benign Het
Adamtsl3 G A 7: 82,574,442 A218T possibly damaging Het
Ahnak2 T C 12: 112,775,208 D810G probably damaging Het
Ak7 T A 12: 105,741,082 L315* probably null Het
Apoa5 T C 9: 46,270,589 F321S possibly damaging Het
Baiap2l1 G C 5: 144,275,958 P416A probably damaging Het
Bco1 A G 8: 117,108,693 I128V possibly damaging Het
Bpifb2 T C 2: 153,875,985 probably benign Het
Cdt1 G A 8: 122,568,093 R13H possibly damaging Het
Cenpj A G 14: 56,552,423 V723A probably benign Het
Chl1 T A 6: 103,708,714 W849R probably damaging Het
Cpne9 A G 6: 113,290,231 D169G probably damaging Het
Cyp2d22 A G 15: 82,372,571 V334A probably damaging Het
Cyp4f39 C A 17: 32,470,833 N84K probably benign Het
Cyp4f40 T A 17: 32,669,822 F192I probably damaging Het
Disp3 T C 4: 148,258,097 D632G probably benign Het
Dnhd1 G A 7: 105,703,209 R2523Q probably damaging Het
Echs1 G T 7: 140,112,513 T107K probably benign Het
Ehmt2 C T 17: 34,899,091 R40* probably null Het
Fank1 G T 7: 133,876,840 C210F probably damaging Het
Fbxo15 T G 18: 84,960,069 M136R probably damaging Het
Ggcx C A 6: 72,424,034 P240H probably damaging Het
Gpr179 T C 11: 97,336,782 R1516G probably benign Het
Gprin3 G A 6: 59,353,946 Q459* probably null Het
Hadha C A 5: 30,145,254 V99F possibly damaging Het
Hirip3 A G 7: 126,863,862 D330G possibly damaging Het
Irx2 T C 13: 72,631,595 W333R probably damaging Het
Kansl1l T C 1: 66,802,112 T10A probably benign Het
Kcnd2 T C 6: 21,723,212 I467T probably benign Het
Klc3 A T 7: 19,397,007 I215N probably damaging Het
Kmt2c A G 5: 25,299,339 V3657A probably benign Het
Lin28b A T 10: 45,469,068 L54* probably null Het
Mgll T C 6: 88,725,761 V14A probably benign Het
Mrc2 A G 11: 105,343,582 N976S probably benign Het
Myh8 C A 11: 67,305,962 A1807E possibly damaging Het
Nalcn G A 14: 123,409,743 P573S probably damaging Het
Ncam2 C T 16: 81,434,878 R77* probably null Het
Neb T C 2: 52,278,815 S1903G probably benign Het
Nfe2 T A 15: 103,249,129 D145V probably damaging Het
Olfr243 T A 7: 103,717,480 Y295* probably null Het
Padi1 A T 4: 140,814,853 V586D probably damaging Het
Pcdh12 T C 18: 38,283,139 D311G probably damaging Het
Pcdha11 A T 18: 37,012,386 H510L probably damaging Het
Plcb1 C A 2: 135,260,566 P221H probably benign Het
Plekhg2 A T 7: 28,370,431 V58E probably damaging Het
Pparg A C 6: 115,490,071 Q435P probably damaging Het
Ppp1r36 A G 12: 76,438,118 T282A possibly damaging Het
Prcd T C 11: 116,668,284 probably benign Het
Pygo1 A T 9: 72,944,984 H151L possibly damaging Het
Rnmt A G 18: 68,313,702 Y266C probably benign Het
Rxrb T C 17: 34,036,437 V246A probably damaging Het
Sart1 A G 19: 5,383,676 S378P probably damaging Het
Sema4d T C 13: 51,711,354 N318S possibly damaging Het
Sis C T 3: 72,891,421 V1765I probably benign Het
Slc17a6 A T 7: 51,626,850 K116* probably null Het
Smc6 T A 12: 11,291,539 H519Q probably benign Het
Sowahc T A 10: 59,222,963 M307K probably benign Het
Sptbn1 A G 11: 30,137,560 Y960H probably damaging Het
Tmem270 A C 5: 134,902,782 V102G probably benign Het
Tmprss11d A G 5: 86,338,870 F54L probably benign Het
Top1 T A 2: 160,702,775 Y270* probably null Het
Trpm2 A G 10: 77,935,961 F615L probably benign Het
Ttf2 A G 3: 100,959,242 S525P probably damaging Het
Ttn A T 2: 76,946,897 M1387K possibly damaging Het
Upk3bl A T 5: 136,060,100 R156W probably damaging Het
Usp34 G T 11: 23,349,198 R290L probably benign Het
Vwf T C 6: 125,643,042 V1561A Het
Zan A G 5: 137,421,893 I2834T unknown Het
Zfp105 A G 9: 122,926,389 Y90C probably benign Het
Zfp804a T C 2: 82,258,995 V1056A probably damaging Het
Zfp956 A T 6: 47,953,521 probably benign Het
Other mutations in Ergic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02312:Ergic1 APN 17 26629627 missense probably damaging 0.96
R1157:Ergic1 UTSW 17 26614395 missense probably damaging 1.00
R1536:Ergic1 UTSW 17 26641706 critical splice donor site probably null
R2147:Ergic1 UTSW 17 26636050 splice site probably null
R2200:Ergic1 UTSW 17 26641592 missense possibly damaging 0.82
R4721:Ergic1 UTSW 17 26638776 missense probably damaging 1.00
R4897:Ergic1 UTSW 17 26629623 missense probably benign 0.00
R5526:Ergic1 UTSW 17 26624678 missense probably damaging 1.00
R5646:Ergic1 UTSW 17 26614358 missense probably damaging 1.00
R7015:Ergic1 UTSW 17 26654879 intron probably benign
R7182:Ergic1 UTSW 17 26654882 missense
R7323:Ergic1 UTSW 17 26641670 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGGACATGTGCACACTG -3'
(R):5'- CATCTATGATTCCAGAAAACAGGTGG -3'

Sequencing Primer
(F):5'- GGACATGTGCACACTGTTGTACC -3'
(R):5'- TATGTATATTTACACACGCACACAC -3'
Posted On2016-10-05