Incidental Mutation 'IGL01364:Evi2b'
ID 75876
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 # IGL01364
Quality Score
Status
Chromosome 11
Chromosomal Location 79405882-79414588 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 79407449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 42 (Y42F)
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 benign
Transcript: ENSMUST00000170422
AA Change: Y42F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: Y42F

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 benign
Transcript: ENSMUST00000179322
AA Change: Y42F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: Y42F

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 (GRCm39) probably null Het
Acot6 T C 12: 84,147,840 (GRCm39) V32A possibly damaging Het
Aff3 A T 1: 38,574,762 (GRCm39) L73I probably damaging Het
Aldh1l2 C A 10: 83,328,531 (GRCm39) D729Y probably damaging Het
Alox15 T C 11: 70,235,992 (GRCm39) Q525R possibly damaging Het
Atr T C 9: 95,747,677 (GRCm39) Y320H probably benign Het
Atxn3 C T 12: 101,900,682 (GRCm39) probably benign Het
Caprin2 C A 6: 148,774,526 (GRCm39) S262I probably benign Het
Ccar1 T C 10: 62,612,653 (GRCm39) probably null Het
Ccdc14 T A 16: 34,543,583 (GRCm39) L647H probably damaging Het
Cd300lf T C 11: 115,017,176 (GRCm39) D49G probably benign Het
Csmd2 A G 4: 128,308,081 (GRCm39) T1280A probably benign Het
Ddb1 T C 19: 10,605,024 (GRCm39) probably null Het
Dnah9 A G 11: 66,046,285 (GRCm39) Y88H probably damaging Het
Enpp1 T C 10: 24,540,512 (GRCm39) T351A probably damaging Het
Fdps A T 3: 89,001,577 (GRCm39) C274* probably null Het
Flnb A C 14: 7,934,562 (GRCm38) probably null Het
Herc1 T A 9: 66,306,643 (GRCm39) V917E probably benign Het
Hmcn2 C T 2: 31,251,826 (GRCm39) Q854* probably null Het
Hmgxb3 T C 18: 61,279,506 (GRCm39) Y769C probably damaging Het
Hps3 G T 3: 20,057,469 (GRCm39) Q772K possibly damaging Het
Ifnab T C 4: 88,608,987 (GRCm39) S160G probably damaging Het
Kalrn T C 16: 34,082,999 (GRCm39) E652G probably damaging Het
Kat6a T C 8: 23,397,716 (GRCm39) L255S probably damaging Het
Kbtbd7 T A 14: 79,665,486 (GRCm39) D439E possibly damaging Het
Kcnn4 T C 7: 24,081,128 (GRCm39) F289L probably benign Het
Mapk6 A C 9: 75,296,072 (GRCm39) D475E possibly damaging Het
Msh5 A G 17: 35,247,745 (GRCm39) V825A possibly damaging Het
Mst1 A G 9: 107,958,800 (GRCm39) I111V probably benign Het
Myo1h T A 5: 114,486,500 (GRCm39) I586N probably damaging Het
Or4k36 G T 2: 111,146,015 (GRCm39) A64S probably damaging Het
Panx1 C T 9: 14,932,761 (GRCm39) V80M probably damaging Het
Polr3b T A 10: 84,531,533 (GRCm39) I803N probably benign Het
Rasa4 T C 5: 136,124,425 (GRCm39) V158A possibly damaging Het
Rbp3 T A 14: 33,676,145 (GRCm39) M31K possibly damaging Het
Rpl3l A G 17: 24,951,404 (GRCm39) K154E probably benign Het
Sec24a A T 11: 51,604,356 (GRCm39) probably null Het
Sox5 C T 6: 144,062,198 (GRCm39) M151I probably damaging Het
Sun1 T A 5: 139,220,496 (GRCm39) L290Q probably damaging Het
Tm9sf2 T A 14: 122,380,872 (GRCm39) I155N probably damaging Het
Trmt9b A G 8: 36,979,501 (GRCm39) K368R probably benign Het
Tuft1 A G 3: 94,542,810 (GRCm39) probably benign Het
Ubash3b A G 9: 40,929,311 (GRCm39) probably null Het
Vwa1 A G 4: 155,855,200 (GRCm39) probably null Het
Wnk1 T C 6: 119,914,372 (GRCm39) E80G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Evi2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Evi2b APN 11 79,407,126 (GRCm39) missense probably damaging 0.99
IGL01937:Evi2b APN 11 79,406,893 (GRCm39) missense probably damaging 1.00
IGL02026:Evi2b APN 11 79,406,613 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07