Incidental Mutation 'IGL01937:Evi2b'
ID 180725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Evi2b
Ensembl Gene ENSMUSG00000093938
Gene Name ecotropic viral integration site 2b
Synonyms Evi2
Accession Numbers
Essential gene? Not available question?
Stock # IGL01937
Quality Score
Status
Chromosome 11
Chromosomal Location 79405882-79414588 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79406893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 227 (K227N)
Ref Sequence ENSEMBL: ENSMUSP00000136153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000093983] [ENSMUST00000108251] [ENSMUST00000170422] [ENSMUST00000179322]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071325
SMART Domains Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716

DomainStartEndE-ValueType
RasGAP 1189 1559 2.56e-151 SMART
SEC14 1585 1737 2.36e-11 SMART
low complexity region 2619 2629 N/A INTRINSIC
low complexity region 2750 2763 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093983
SMART Domains Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354

DomainStartEndE-ValueType
Pfam:EVI2A 1 75 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108251
SMART Domains Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716

DomainStartEndE-ValueType
RasGAP 1189 1538 1.23e-153 SMART
SEC14 1564 1716 2.36e-11 SMART
low complexity region 2598 2608 N/A INTRINSIC
low complexity region 2729 2742 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170422
AA Change: K227N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: K227N

DomainStartEndE-ValueType
low complexity region 139 152 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
transmembrane domain 204 226 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 391 396 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179322
AA Change: K227N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: K227N

DomainStartEndE-ValueType
low complexity region 139 152 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
transmembrane domain 204 226 N/A INTRINSIC
low complexity region 334 348 N/A INTRINSIC
low complexity region 391 396 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Abcb11 G T 2: 69,117,956 (GRCm39) P474H probably damaging Het
Actn1 T C 12: 80,218,537 (GRCm39) N749S probably benign Het
Atf7ip2 T A 16: 10,059,401 (GRCm39) probably null Het
Brinp3 A T 1: 146,776,878 (GRCm39) T442S probably benign Het
Cdh20 A G 1: 110,065,826 (GRCm39) N700S probably benign Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Dlc1 G T 8: 37,317,345 (GRCm39) S443R probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Hemgn T C 4: 46,396,057 (GRCm39) Y393C probably damaging Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Katnip A G 7: 125,453,777 (GRCm39) T1165A probably benign Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Mmp14 T C 14: 54,675,053 (GRCm39) probably benign Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or8k33 A G 2: 86,383,793 (GRCm39) V225A probably benign Het
Pcnx3 A G 19: 5,727,691 (GRCm39) V1031A probably benign Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ppa1 G A 10: 61,501,215 (GRCm39) V161M probably benign Het
Prrc2a A C 17: 35,374,567 (GRCm39) I1361S possibly damaging Het
Psmd6 A T 14: 14,116,169 (GRCm38) S140T probably benign Het
Ptprm A G 17: 67,353,158 (GRCm39) probably benign Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rfx3 A T 19: 27,808,129 (GRCm39) Y205N probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Selenop C T 15: 3,308,750 (GRCm39) T234M probably benign Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r84 A G 10: 130,221,755 (GRCm39) C822R probably damaging Het
Other mutations in Evi2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Evi2b APN 11 79,407,449 (GRCm39) missense probably benign
IGL01621:Evi2b APN 11 79,407,126 (GRCm39) missense probably damaging 0.99
IGL02026:Evi2b APN 11 79,406,613 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07