Incidental Mutation 'R0443:Ergic3'
ID 39260
Institutional Source Beutler Lab
Gene Symbol Ergic3
Ensembl Gene ENSMUSG00000005881
Gene Name ERGIC and golgi 3
Synonyms 2310015B14Rik, CGI-54, NY-BR-84, D2Ucla1, Sdbcag84
MMRRC Submission 038644-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # R0443 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 155849965-155860199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155858707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 278 (V278M)
Ref Sequence ENSEMBL: ENSMUSP00000086025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006035] [ENSMUST00000088650] [ENSMUST00000109611]
AlphaFold Q9CQE7
Predicted Effect probably benign
Transcript: ENSMUST00000006035
AA Change: V267M

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881
AA Change: V267M

DomainStartEndE-ValueType
Pfam:ERGIC_N 6 101 2.2e-38 PFAM
Pfam:COPIIcoated_ERV 145 363 6.2e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088650
AA Change: V278M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881
AA Change: V278M

DomainStartEndE-ValueType
Pfam:ERGIC_N 7 97 9e-35 PFAM
Pfam:COPIIcoated_ERV 145 374 7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109611
SMART Domains Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338

DomainStartEndE-ValueType
PDB:3L9B|A 1 122 1e-12 PDB
Blast:C2 2 96 2e-51 BLAST
low complexity region 159 172 N/A INTRINSIC
low complexity region 178 197 N/A INTRINSIC
C2 228 329 2.87e-7 SMART
FerI 312 383 7.93e-29 SMART
C2 391 501 3.64e-9 SMART
low complexity region 574 581 N/A INTRINSIC
low complexity region 611 622 N/A INTRINSIC
low complexity region 829 837 N/A INTRINSIC
low complexity region 844 855 N/A INTRINSIC
FerB 861 932 7.27e-37 SMART
C2 968 1076 3.73e-6 SMART
low complexity region 1249 1257 N/A INTRINSIC
low complexity region 1280 1310 N/A INTRINSIC
low complexity region 1327 1340 N/A INTRINSIC
low complexity region 1397 1407 N/A INTRINSIC
C2 1449 1548 5.65e-15 SMART
C2 1692 1822 4.22e-5 SMART
Pfam:Ferlin_C 1834 1987 1.6e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150970
Predicted Effect unknown
Transcript: ENSMUST00000155370
AA Change: V142M
SMART Domains Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881
AA Change: V142M

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 21 235 1e-95 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142859
AA Change: V200M
SMART Domains Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881
AA Change: V200M

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 74 246 1.9e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150538
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b G T 5: 26,053,409 (GRCm39) R246L probably damaging Het
Adam18 T C 8: 25,119,653 (GRCm39) probably null Het
Ankhd1 A G 18: 36,777,652 (GRCm39) S1612G possibly damaging Het
Caskin1 C T 17: 24,724,374 (GRCm39) A1054V probably damaging Het
Casz1 T C 4: 149,033,368 (GRCm39) V1380A possibly damaging Het
Ccn2 T C 10: 24,471,701 (GRCm39) probably benign Het
Cnot6l T G 5: 96,239,604 (GRCm39) probably benign Het
Crat T C 2: 30,293,640 (GRCm39) probably benign Het
Cux2 C T 5: 122,025,500 (GRCm39) R56H possibly damaging Het
Dst A G 1: 34,333,631 (GRCm39) probably null Het
Dync2h1 G T 9: 7,167,244 (GRCm39) probably null Het
Epg5 T C 18: 77,999,118 (GRCm39) probably benign Het
Fam20b A T 1: 156,509,023 (GRCm39) D396E probably benign Het
Gapvd1 A G 2: 34,594,633 (GRCm39) probably benign Het
Golga1 A T 2: 38,908,453 (GRCm39) S749T probably damaging Het
Gsdma2 C T 11: 98,548,514 (GRCm39) T255I probably damaging Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Itgam C T 7: 127,680,806 (GRCm39) A245V probably damaging Het
Kcnk15 A G 2: 163,700,243 (GRCm39) T161A probably benign Het
Map3k19 A T 1: 127,750,152 (GRCm39) N1066K probably benign Het
Ms4a6b A G 19: 11,499,044 (GRCm39) I53V possibly damaging Het
Mtf1 C T 4: 124,718,075 (GRCm39) probably benign Het
Neb T C 2: 52,051,489 (GRCm39) probably null Het
Nop9 A G 14: 55,991,205 (GRCm39) S621G probably benign Het
Or1e19 A G 11: 73,316,581 (GRCm39) V76A probably damaging Het
Or5p60 A G 7: 107,724,023 (GRCm39) V149A probably benign Het
Or9a2 T A 6: 41,748,829 (GRCm39) I135F possibly damaging Het
Pacs1 A T 19: 5,322,611 (GRCm39) Y102* probably null Het
Pcdhb10 A C 18: 37,545,485 (GRCm39) D187A probably damaging Het
Pih1d2 A G 9: 50,532,403 (GRCm39) R170G possibly damaging Het
Pikfyve A G 1: 65,235,865 (GRCm39) H179R probably damaging Het
Pknox1 A G 17: 31,811,193 (GRCm39) S156G probably damaging Het
Prkcz T A 4: 155,353,597 (GRCm39) D250V probably damaging Het
Psg16 T A 7: 16,829,088 (GRCm39) I224N probably benign Het
Ro60 A G 1: 143,641,661 (GRCm39) probably benign Het
Slc25a40 T A 5: 8,497,348 (GRCm39) S229T probably benign Het
Slc43a2 T C 11: 75,435,493 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tas2r129 G T 6: 132,928,159 (GRCm39) C32F probably benign Het
Tfap2d C T 1: 19,174,591 (GRCm39) R15C possibly damaging Het
Tonsl T C 15: 76,523,884 (GRCm39) S39G probably benign Het
Trpc2 A G 7: 101,742,727 (GRCm39) probably benign Het
Ttc17 A G 2: 94,208,439 (GRCm39) F144S probably benign Het
Twnk G T 19: 44,996,578 (GRCm39) G337V possibly damaging Het
Uvssa A G 5: 33,546,168 (GRCm39) R180G possibly damaging Het
Vmn1r197 T A 13: 22,512,241 (GRCm39) I54K possibly damaging Het
Vmn1r71 G A 7: 10,482,238 (GRCm39) T84I probably benign Het
Zbtb49 T C 5: 38,358,174 (GRCm39) E693G probably benign Het
Other mutations in Ergic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02089:Ergic3 APN 2 155,852,395 (GRCm39) missense probably benign
IGL02792:Ergic3 APN 2 155,859,770 (GRCm39) missense probably damaging 1.00
R0128:Ergic3 UTSW 2 155,853,060 (GRCm39) missense possibly damaging 0.79
R0389:Ergic3 UTSW 2 155,858,707 (GRCm39) missense probably benign 0.07
R1116:Ergic3 UTSW 2 155,858,707 (GRCm39) missense probably benign 0.07
R2005:Ergic3 UTSW 2 155,853,028 (GRCm39) missense possibly damaging 0.85
R2230:Ergic3 UTSW 2 155,859,736 (GRCm39) missense probably damaging 1.00
R2232:Ergic3 UTSW 2 155,859,736 (GRCm39) missense probably damaging 1.00
R4975:Ergic3 UTSW 2 155,859,638 (GRCm39) critical splice donor site probably null
R5103:Ergic3 UTSW 2 155,850,545 (GRCm39) missense probably benign 0.37
R5285:Ergic3 UTSW 2 155,859,957 (GRCm39) unclassified probably benign
R6624:Ergic3 UTSW 2 155,858,818 (GRCm39) missense probably damaging 1.00
R6660:Ergic3 UTSW 2 155,859,754 (GRCm39) missense probably damaging 1.00
R7094:Ergic3 UTSW 2 155,858,683 (GRCm39) missense possibly damaging 0.85
R8948:Ergic3 UTSW 2 155,853,160 (GRCm39) missense probably benign 0.29
R9155:Ergic3 UTSW 2 155,850,780 (GRCm39) missense probably damaging 1.00
R9780:Ergic3 UTSW 2 155,853,164 (GRCm39) nonsense probably null
X0027:Ergic3 UTSW 2 155,850,531 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGTACAGCCAGTCCTTCCATCATTG -3'
(R):5'- AGTTGTCCCCGTACTACCTGAACTC -3'

Sequencing Primer
(F):5'- CCCTGCATTGACAGACTCAG -3'
(R):5'- GTACTACCTGAACTCACCTCC -3'
Posted On 2013-05-23