Incidental Mutation 'IGL00592:Eva1b'
ID 10562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eva1b
Ensembl Gene ENSMUSG00000050212
Gene Name eva-1 homolog B
Synonyms 2610027C15Rik, Fam176b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL00592
Quality Score
Status
Chromosome 4
Chromosomal Location 126041537-126043668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126043443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 161 (M161T)
Ref Sequence ENSEMBL: ENSMUSP00000101758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052876] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000106150] [ENSMUST00000106152]
AlphaFold Q8K2Y3
Predicted Effect probably benign
Transcript: ENSMUST00000052876
AA Change: M161T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054141
Gene: ENSMUSG00000050212
AA Change: M161T

DomainStartEndE-ValueType
Pfam:FAM176 7 154 5.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094760
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 68 125 7.11e-22 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 464 473 N/A INTRINSIC
coiled coil region 482 510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097891
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 1 57 4.29e-7 SMART
low complexity region 66 76 N/A INTRINSIC
SH3 86 141 2.96e-19 SMART
SH3 184 241 7.11e-22 SMART
low complexity region 327 337 N/A INTRINSIC
low complexity region 580 589 N/A INTRINSIC
coiled coil region 598 626 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106150
AA Change: M161T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101756
Gene: ENSMUSG00000050212
AA Change: M161T

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106152
AA Change: M161T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101758
Gene: ENSMUSG00000050212
AA Change: M161T

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141638
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,126,397 (GRCm39) I91V probably damaging Het
Ak6 T C 13: 100,800,599 (GRCm39) V74A probably benign Het
Antxr1 C A 6: 87,265,784 (GRCm39) V110F probably damaging Het
Anxa1 T C 19: 20,355,033 (GRCm39) D247G probably benign Het
Dgkg T C 16: 22,298,112 (GRCm39) probably benign Het
Fbxw22 C A 9: 109,213,108 (GRCm39) V280F possibly damaging Het
Klhl9 A G 4: 88,639,378 (GRCm39) S288P probably damaging Het
Masp2 C T 4: 148,687,186 (GRCm39) P23S probably benign Het
Ncam1 T A 9: 49,434,865 (GRCm39) D600V probably damaging Het
Pcnx4 A G 12: 72,626,139 (GRCm39) N1115S probably damaging Het
Pdia2 A G 17: 26,417,090 (GRCm39) V109A probably damaging Het
Pla1a G T 16: 38,235,212 (GRCm39) H161N probably damaging Het
Prokr2 A T 2: 132,223,424 (GRCm39) D39E probably benign Het
Sall4 T C 2: 168,597,883 (GRCm39) D319G probably damaging Het
Sgms2 A G 3: 131,135,482 (GRCm39) S131P possibly damaging Het
Slc22a2 A T 17: 12,827,305 (GRCm39) Q319L possibly damaging Het
Slc27a5 A G 7: 12,722,566 (GRCm39) I636T probably benign Het
Tas2r131 T G 6: 132,934,159 (GRCm39) T217P probably damaging Het
Trh T C 6: 92,219,723 (GRCm39) M198V possibly damaging Het
Ube2b A C 11: 51,877,546 (GRCm39) V141G probably damaging Het
Ube2l6 T A 2: 84,639,373 (GRCm39) V112E probably damaging Het
Vmn1r79 T C 7: 11,910,934 (GRCm39) I272T probably benign Het
Xylb C T 9: 119,219,549 (GRCm39) Q513* probably null Het
Zbtb4 T A 11: 69,667,557 (GRCm39) C287* probably null Het
Other mutations in Eva1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0139:Eva1b UTSW 4 126,043,446 (GRCm39) missense probably damaging 0.99
R6285:Eva1b UTSW 4 126,043,278 (GRCm39) missense probably damaging 1.00
R6638:Eva1b UTSW 4 126,043,265 (GRCm39) missense probably benign 0.33
R7181:Eva1b UTSW 4 126,043,446 (GRCm39) missense possibly damaging 0.95
Posted On 2012-12-06