Incidental Mutation 'IGL00592:Eva1b'
ID10562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eva1b
Ensembl Gene ENSMUSG00000050212
Gene Nameeva-1 homolog B (C. elegans)
SynonymsFam176b, 2610027C15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL00592
Quality Score
Status
Chromosome4
Chromosomal Location126147744-126149875 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126149650 bp
ZygosityHeterozygous
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]
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: ENSMUST00000141638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 A G 3: 138,420,636 I91V probably damaging Het
Ak6 T C 13: 100,664,091 V74A probably benign Het
Antxr1 C A 6: 87,288,802 V110F probably damaging Het
Anxa1 T C 19: 20,377,669 D247G probably benign Het
Dgkg T C 16: 22,479,362 probably benign Het
Fbxw22 C A 9: 109,384,040 V280F possibly damaging Het
Klhl9 A G 4: 88,721,141 S288P probably damaging Het
Masp2 C T 4: 148,602,729 P23S probably benign Het
Ncam1 T A 9: 49,523,565 D600V probably damaging Het
Pcnx4 A G 12: 72,579,365 N1115S probably damaging Het
Pdia2 A G 17: 26,198,116 V109A probably damaging Het
Pla1a G T 16: 38,414,850 H161N probably damaging Het
Prokr2 A T 2: 132,381,504 D39E probably benign Het
Sall4 T C 2: 168,755,963 D319G probably damaging Het
Sgms2 A G 3: 131,341,833 S131P possibly damaging Het
Slc22a2 A T 17: 12,608,418 Q319L possibly damaging Het
Slc27a5 A G 7: 12,988,639 I636T probably benign Het
Tas2r131 T G 6: 132,957,196 T217P probably damaging Het
Trh T C 6: 92,242,742 M198V possibly damaging Het
Ube2b A C 11: 51,986,719 V141G probably damaging Het
Ube2l6 T A 2: 84,809,029 V112E probably damaging Het
Vmn1r79 T C 7: 12,177,007 I272T probably benign Het
Xylb C T 9: 119,390,483 Q513* probably null Het
Zbtb4 T A 11: 69,776,731 C287* probably null Het
Other mutations in Eva1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0139:Eva1b UTSW 4 126149653 missense probably damaging 0.99
R6285:Eva1b UTSW 4 126149485 missense probably damaging 1.00
R6638:Eva1b UTSW 4 126149472 missense probably benign 0.33
R7181:Eva1b UTSW 4 126149653 missense possibly damaging 0.95
Posted On2012-12-06