Incidental Mutation 'R4202:Bclaf3'
ID 318809
Institutional Source Beutler Lab
Gene Symbol Bclaf3
Ensembl Gene ENSMUSG00000044150
Gene Name Bclaf1 and Thrap3 family member 3
Synonyms LOC382252, A830080D01Rik
MMRRC Submission 041032-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4202 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 158315639-158376077 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158336829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 419 (S419T)
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: S419T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051031
Gene: ENSMUSG00000044150
AA Change: S419T

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 2 602 3e-202 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112464
AA Change: S419T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108083
Gene: ENSMUSG00000044150
AA Change: S419T

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
Meta Mutation Damage Score 0.0958 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 92% (33/36)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adsl C T 15: 80,836,417 (GRCm39) T58I probably damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Ap2b1 T A 11: 83,226,430 (GRCm39) probably null Het
Bysl A G 17: 47,915,251 (GRCm39) S166P probably benign Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdc42bpb G A 12: 111,260,573 (GRCm39) P1702S probably benign Het
Cfap65 G T 1: 74,959,701 (GRCm39) F816L probably damaging Het
Cnot6 T C 11: 49,593,463 (GRCm39) Y6C probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Gmeb2 A G 2: 180,895,766 (GRCm39) V468A possibly damaging Het
Gucy2g A G 19: 55,218,201 (GRCm39) S416P possibly damaging Het
Hormad1 G A 3: 95,492,509 (GRCm39) R362H probably benign Het
Lancl2 T A 6: 57,689,977 (GRCm39) V61D probably benign Het
Lta4h A G 10: 93,306,669 (GRCm39) D287G probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Or6c206 T C 10: 129,097,646 (GRCm39) V272A probably benign Het
Or7a42 T C 10: 78,791,129 (GRCm39) V30A probably benign Het
Osbpl9 G T 4: 109,029,437 (GRCm39) probably benign Het
Oser1 T C 2: 163,253,375 (GRCm39) T45A probably benign Het
Pip4p1 A G 14: 51,168,112 (GRCm39) S41P probably damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Prss43 T A 9: 110,656,529 (GRCm39) V72D probably benign Het
Sdhb T A 4: 140,706,379 (GRCm39) M272K possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tas2r138 T C 6: 40,589,410 (GRCm39) M279V possibly damaging Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Vmn2r87 T C 10: 130,308,448 (GRCm39) I597V probably benign Het
Wnt5b T C 6: 119,417,272 (GRCm39) N198D 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
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
R4205:Bclaf3 UTSW X 158,336,829 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTCCTGCAAATAGAGAGTTAG -3'
(R):5'- CCAGGACTTTGGAAGAAATTATTGG -3'

Sequencing Primer
(F):5'- TTGTTTCAGTACTACAAGAGGAAGAG -3'
(R):5'- TGGAAGCTGCAAATTAAGG -3'
Posted On 2015-06-10