Incidental Mutation 'IGL02792:Ergic3'
ID 359806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ergic3
Ensembl Gene ENSMUSG00000005881
Gene Name ERGIC and golgi 3
Synonyms 2310015B14Rik, CGI-54, NY-BR-84, D2Ucla1, Sdbcag84
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # IGL02792
Quality Score
Status
Chromosome 2
Chromosomal Location 155849965-155860199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155859770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 357 (T357K)
Ref Sequence ENSEMBL: ENSMUSP00000006035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006035] [ENSMUST00000088650] [ENSMUST00000109611]
AlphaFold Q9CQE7
Predicted Effect probably damaging
Transcript: ENSMUST00000006035
AA Change: T357K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881
AA Change: T357K

DomainStartEndE-ValueType
Pfam:ERGIC_N 6 101 2.2e-38 PFAM
Pfam:COPIIcoated_ERV 145 363 6.2e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088650
AA Change: T368K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881
AA Change: T368K

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 unknown
Transcript: ENSMUST00000155370
AA Change: T232K
SMART Domains Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881
AA Change: T232K

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 21 235 1e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150538
Predicted Effect probably benign
Transcript: ENSMUST00000142859
SMART Domains Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 74 246 1.9e-67 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,401,107 (GRCm39) V131M probably benign Het
Abca6 A T 11: 110,079,507 (GRCm39) C1216S probably damaging Het
Acly T C 11: 100,369,236 (GRCm39) K1018E probably damaging Het
Acsl5 G A 19: 55,282,163 (GRCm39) probably null Het
Adgrb1 C A 15: 74,419,471 (GRCm39) L771I probably damaging Het
Adh7 A T 3: 137,929,498 (GRCm39) K89I probably damaging Het
Adora2b A T 11: 62,156,309 (GRCm39) I253F possibly damaging Het
Akna G A 4: 63,295,943 (GRCm39) P975S possibly damaging Het
Alg9 T C 9: 50,754,048 (GRCm39) L576P possibly damaging Het
Arhgap20 A G 9: 51,761,218 (GRCm39) E1023G possibly damaging Het
Astn2 A T 4: 65,563,058 (GRCm39) S908T probably benign Het
Atp1a4 C T 1: 172,054,866 (GRCm39) probably null Het
Cabin1 T C 10: 75,582,573 (GRCm39) Y281C probably damaging Het
Cdc42bpb G T 12: 111,265,995 (GRCm39) F1312L probably benign Het
Cfap65 A C 1: 74,966,337 (GRCm39) F330C probably damaging Het
Col27a1 C T 4: 63,233,820 (GRCm39) P689S unknown Het
Col4a3 A T 1: 82,696,524 (GRCm39) K1643N probably damaging Het
Dop1b T A 16: 93,598,460 (GRCm39) V1875D possibly damaging Het
Eftud2 A G 11: 102,761,082 (GRCm39) probably benign Het
Glra1 A T 11: 55,427,226 (GRCm39) D36E probably damaging Het
Gpatch1 A G 7: 35,001,018 (GRCm39) Y330H probably damaging Het
Hmcn2 T C 2: 31,236,602 (GRCm39) S382P probably damaging Het
Kat6a G A 8: 23,428,316 (GRCm39) E1224K probably damaging Het
Klk13 A G 7: 43,370,838 (GRCm39) E29G possibly damaging Het
Klra9 T C 6: 130,165,643 (GRCm39) D124G probably benign Het
Lrmda T C 14: 22,069,978 (GRCm39) probably null Het
Ltbp1 G A 17: 75,589,989 (GRCm39) V539M probably damaging Het
Ngfr A C 11: 95,462,687 (GRCm39) L317R probably damaging Het
Nlrp6 C A 7: 140,502,348 (GRCm39) H151Q probably damaging Het
Nnt A G 13: 119,494,182 (GRCm39) L633P probably damaging Het
Nxpe3 C T 16: 55,686,535 (GRCm39) V158M probably damaging Het
Or11i1 T C 3: 106,729,456 (GRCm39) T140A probably damaging Het
Or2d36 T C 7: 106,747,425 (GRCm39) F301L probably benign Het
Or7g16 C T 9: 18,727,254 (GRCm39) S112N probably benign Het
Pla2g4f T C 2: 120,133,850 (GRCm39) Y517C probably damaging Het
Poc1a A T 9: 106,172,393 (GRCm39) I207F possibly damaging Het
Polr2a A G 11: 69,636,938 (GRCm39) S338P probably damaging Het
Ptprz1 T C 6: 22,959,722 (GRCm39) V73A probably damaging Het
Relb A T 7: 19,347,789 (GRCm39) L281Q probably damaging Het
Rrp8 A T 7: 105,383,018 (GRCm39) L382* probably null Het
Setd1a C T 7: 127,390,522 (GRCm39) S523F unknown Het
Slamf8 A G 1: 172,415,697 (GRCm39) I47T probably damaging Het
Slc16a4 G A 3: 107,206,193 (GRCm39) A88T probably benign Het
Sox6 C T 7: 115,140,884 (GRCm39) M532I probably benign Het
Tcp11l1 T A 2: 104,512,165 (GRCm39) Y489F probably benign Het
Tdrd6 T G 17: 43,935,918 (GRCm39) D1710A probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vangl1 A T 3: 102,070,739 (GRCm39) I399N probably damaging Het
Vmn1r201 T C 13: 22,659,014 (GRCm39) L76P probably damaging Het
Vmn1r58 T C 7: 5,414,228 (GRCm39) M1V probably null Het
Wdfy4 T C 14: 32,817,262 (GRCm39) I1561V probably benign Het
Xkr9 A G 1: 13,771,027 (GRCm39) D181G probably damaging Het
Zfp318 T C 17: 46,720,104 (GRCm39) F1101L probably damaging Het
Zfpm2 C A 15: 40,966,409 (GRCm39) Q833K probably benign Het
Other mutations in Ergic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02089:Ergic3 APN 2 155,852,395 (GRCm39) missense probably benign
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
R0443: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
Posted On 2015-12-18