Incidental Mutation 'IGL02089:Ergic3'
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ID279345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ergic3
Ensembl Gene ENSMUSG00000005881
Gene NameERGIC and golgi 3
SynonymsD2Ucla1, NY-BR-84, CGI-54, Sdbcag84, 2310015B14Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.490) question?
Stock #IGL02089
Quality Score
Status
Chromosome2
Chromosomal Location156008045-156018279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156010475 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 135 (N135D)
Ref Sequence ENSEMBL: ENSMUSP00000086025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006035] [ENSMUST00000086145] [ENSMUST00000088650] [ENSMUST00000124812] [ENSMUST00000140657] [ENSMUST00000144686]
Predicted Effect probably benign
Transcript: ENSMUST00000006035
AA Change: N135D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881
AA Change: N135D

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: ENSMUST00000086145
Predicted Effect probably benign
Transcript: ENSMUST00000088650
AA Change: N135D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881
AA Change: N135D

DomainStartEndE-ValueType
Pfam:ERGIC_N 7 97 9e-35 PFAM
Pfam:COPIIcoated_ERV 145 374 7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138025
Predicted Effect probably benign
Transcript: ENSMUST00000140657
SMART Domains Protein: ENSMUSP00000118982
Gene: ENSMUSG00000074646

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000142859
AA Change: N63D
SMART Domains Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881
AA Change: N63D

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 74 246 1.9e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144707
Predicted Effect unknown
Transcript: ENSMUST00000155370
AA Change: N10D
SMART Domains Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881
AA Change: N10D

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 21 235 1e-95 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Hipk3 T C 2: 104,431,379 D937G probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pcdh19 A T X: 133,588,496 M977K probably benign Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
Qprt A T 7: 127,108,356 M220K probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rbbp7 C A X: 162,771,056 P162Q probably benign Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Usp38 T C 8: 80,985,714 E564G possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T probably benign Het
Other mutations in Ergic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Ergic3 APN 2 156017850 missense probably damaging 1.00
R0128:Ergic3 UTSW 2 156011140 missense possibly damaging 0.79
R0389:Ergic3 UTSW 2 156016787 missense probably benign 0.07
R0443:Ergic3 UTSW 2 156016787 missense probably benign 0.07
R1116:Ergic3 UTSW 2 156016787 missense probably benign 0.07
R2005:Ergic3 UTSW 2 156011108 missense possibly damaging 0.85
R2230:Ergic3 UTSW 2 156017816 missense probably damaging 1.00
R2232:Ergic3 UTSW 2 156017816 missense probably damaging 1.00
R4975:Ergic3 UTSW 2 156017718 critical splice donor site probably null
R5103:Ergic3 UTSW 2 156008625 missense probably benign 0.37
R5285:Ergic3 UTSW 2 156018037 unclassified probably benign
R6624:Ergic3 UTSW 2 156016898 missense probably damaging 1.00
R6660:Ergic3 UTSW 2 156017834 missense probably damaging 1.00
R7094:Ergic3 UTSW 2 156016763 missense possibly damaging 0.85
X0027:Ergic3 UTSW 2 156008611 missense possibly damaging 0.78
Posted On2015-04-16