Incidental Mutation 'R4205:Bclaf3'
ID 318891
Institutional Source Beutler Lab
Gene Symbol Bclaf3
Ensembl Gene ENSMUSG00000044150
Gene Name Bclaf1 and Thrap3 family member 3
Synonyms LOC382252, A830080D01Rik
MMRRC Submission 041034-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4205 (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: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,422,964 (GRCm39) V17L probably damaging Het
Akap13 T C 7: 75,260,667 (GRCm39) I294T probably benign Het
Alpk2 G A 18: 65,438,282 (GRCm39) T1037M possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Arhgef5 A G 6: 43,250,766 (GRCm39) T506A possibly damaging Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdhr1 G T 14: 36,802,461 (GRCm39) F667L probably benign Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dmrtc2 C T 7: 24,575,231 (GRCm39) Q275* probably null Het
Dsg1b A T 18: 20,541,878 (GRCm39) D795V probably damaging Het
Elavl1 A G 8: 4,339,851 (GRCm39) W244R probably damaging Het
Emilin1 T C 5: 31,077,243 (GRCm39) probably benign Het
Fam20c T G 5: 138,741,431 (GRCm39) L14R probably damaging Het
Glt1d1 G T 5: 127,766,935 (GRCm39) R217L probably benign Het
Klk14 G A 7: 43,344,358 (GRCm39) R223H probably benign Het
Lrrc26 G T 2: 25,180,170 (GRCm39) C57F probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Map2 A G 1: 66,464,449 (GRCm39) Y125C probably damaging Het
Mapk1 T C 16: 16,856,321 (GRCm39) probably benign Het
Mocos G A 18: 24,799,248 (GRCm39) V161M possibly damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Pcdhgb5 A G 18: 37,865,716 (GRCm39) N504D possibly damaging Het
Pcx G A 19: 4,669,194 (GRCm39) V731M possibly damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Ptprh C A 7: 4,600,991 (GRCm39) G129W probably damaging Het
Rasal1 T C 5: 120,797,628 (GRCm39) V120A probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rtn4rl1 A T 11: 75,156,809 (GRCm39) I414F probably damaging Het
Rtn4rl1 C A 11: 75,156,818 (GRCm39) P417T probably damaging Het
Shank3 T C 15: 89,387,521 (GRCm39) L230P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Taar9 C T 10: 23,984,477 (GRCm39) R319H possibly damaging Het
Tbck T A 3: 132,543,789 (GRCm39) I880N probably benign 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
Zc3h13 A G 14: 75,565,041 (GRCm39) D718G unknown 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
R4202:Bclaf3 UTSW X 158,336,829 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCTGCAAATAGAGAGTTAGATTG -3'
(R):5'- CCAGGACTTTGGAAGAAATTATTGG -3'

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