Incidental Mutation 'IGL02861:Bclaf3'
ID 362173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bclaf3
Ensembl Gene ENSMUSG00000044150
Gene Name Bclaf1 and Thrap3 family member 3
Synonyms LOC382252, A830080D01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02861
Quality Score
Status
Chromosome X
Chromosomal Location 158315639-158376077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158338524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 457 (I457T)
Ref Sequence ENSEMBL: ENSMUSP00000108083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057180] [ENSMUST00000112464] [ENSMUST00000131623] [ENSMUST00000144598]
AlphaFold A2AG58
Predicted Effect possibly damaging
Transcript: ENSMUST00000057180
AA Change: I457T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051031
Gene: ENSMUSG00000044150
AA Change: I457T

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 2 602 3e-202 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112464
AA Change: I457T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108083
Gene: ENSMUSG00000044150
AA Change: I457T

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 2 666 9.9e-162 PFAM
low complexity region 706 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131623
SMART Domains Protein: ENSMUSP00000116320
Gene: ENSMUSG00000044150

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 2 60 1.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144598
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for either of two different gene trapped alleles of this gene appear normal at E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cd72 G A 4: 43,448,332 (GRCm39) A316V probably benign Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Il27 A T 7: 126,191,821 (GRCm39) L77Q probably damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Mterf2 A C 10: 84,956,195 (GRCm39) V143G probably damaging Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Stap1 T A 5: 86,219,824 (GRCm39) probably benign Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Zfpm2 A C 15: 40,966,662 (GRCm39) K917T probably damaging Het
Other mutations in Bclaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Bclaf3 APN X 158,341,357 (GRCm39) missense probably benign 0.23
IGL01062:Bclaf3 APN X 158,336,415 (GRCm39) missense probably benign 0.01
IGL02394:Bclaf3 APN X 158,338,485 (GRCm39) missense probably damaging 1.00
IGL02562:Bclaf3 APN X 158,349,434 (GRCm39) missense probably benign 0.02
R3741:Bclaf3 UTSW X 158,334,828 (GRCm39) missense probably benign 0.00
R3742:Bclaf3 UTSW X 158,334,828 (GRCm39) missense probably benign 0.00
R3788:Bclaf3 UTSW X 158,349,492 (GRCm39) missense probably benign 0.00
R3789:Bclaf3 UTSW X 158,349,492 (GRCm39) missense probably benign 0.00
R4202:Bclaf3 UTSW X 158,336,829 (GRCm39) missense probably damaging 1.00
R4205:Bclaf3 UTSW X 158,336,829 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18