Incidental Mutation 'IGL02394:Bclaf3'
ID 293943
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 # IGL02394
Quality Score
Status
Chromosome X
Chromosomal Location 158315639-158376077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158338485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 444 (Y444C)
Ref Sequence ENSEMBL: ENSMUSP00000108083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057180] [ENSMUST00000112464] [ENSMUST00000131623] [ENSMUST00000144598]
AlphaFold A2AG58
Predicted Effect probably damaging
Transcript: ENSMUST00000057180
AA Change: Y444C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051031
Gene: ENSMUSG00000044150
AA Change: Y444C

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 2 602 3e-202 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112464
AA Change: Y444C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108083
Gene: ENSMUSG00000044150
AA Change: Y444C

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 176,886,985 (GRCm39) T288M probably damaging Het
Baat A T 4: 49,489,812 (GRCm39) probably benign Het
Bcs1l A G 1: 74,629,459 (GRCm39) T166A probably damaging Het
Cep135 C T 5: 76,779,318 (GRCm39) T776I probably benign Het
Clasrp A G 7: 19,337,179 (GRCm39) L12P probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp4f15 A G 17: 32,911,609 (GRCm39) I164V possibly damaging Het
Eps15 T A 4: 109,170,162 (GRCm39) L155M probably damaging Het
Fbxl20 G A 11: 98,004,082 (GRCm39) R69W probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gemin2 T A 12: 59,060,842 (GRCm39) probably null Het
Gm20521 T A 14: 55,135,499 (GRCm39) Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 (GRCm38) C178S probably benign Het
Gpr37l1 T C 1: 135,094,746 (GRCm39) N166S probably damaging Het
Gpr45 A G 1: 43,069,272 (GRCm39) probably benign Het
Gpr75 T C 11: 30,842,190 (GRCm39) I365T possibly damaging Het
Gsdmc2 T C 15: 63,707,729 (GRCm39) R22G probably damaging Het
Il23r T C 6: 67,443,256 (GRCm39) probably benign Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Klk1b24 A G 7: 43,841,294 (GRCm39) D209G possibly damaging Het
Med13l A C 5: 118,886,898 (GRCm39) T1600P probably benign Het
Muc16 G T 9: 18,409,996 (GRCm39) H137Q probably damaging Het
Nin T C 12: 70,090,805 (GRCm39) E870G probably damaging Het
Or12k7 A G 2: 36,958,497 (GRCm39) Y60C probably damaging Het
Or5b120 A G 19: 13,480,228 (GRCm39) N174D probably damaging Het
Or6c215 A T 10: 129,638,182 (GRCm39) F71I possibly damaging Het
Pkhd1 T C 1: 20,269,710 (GRCm39) K3278R possibly damaging Het
Prlr A G 15: 10,328,664 (GRCm39) N380D probably benign Het
Rpgr A C X: 10,032,456 (GRCm39) S582R probably benign Het
Rph3a T C 5: 121,084,411 (GRCm39) probably null Het
Setd5 A G 6: 113,087,859 (GRCm39) H140R probably benign Het
Stoml3 C A 3: 53,405,540 (GRCm39) probably benign Het
Teddm1a A C 1: 153,767,545 (GRCm39) D3A probably benign Het
Tmem207 A G 16: 26,335,586 (GRCm39) probably benign Het
Triml1 T A 8: 43,591,629 (GRCm39) Q243L possibly damaging Het
Usp5 G A 6: 124,799,672 (GRCm39) T274M probably damaging Het
Vav2 A G 2: 27,187,671 (GRCm39) probably benign Het
Wdr5b A G 16: 35,862,633 (GRCm39) N251D probably damaging Het
Wnk2 C A 13: 49,235,375 (GRCm39) probably null 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
IGL02562:Bclaf3 APN X 158,349,434 (GRCm39) missense probably benign 0.02
IGL02861:Bclaf3 APN X 158,338,524 (GRCm39) missense possibly damaging 0.58
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 2015-04-16