Incidental Mutation 'R3854:Bend3'
ID 276068
Institutional Source Beutler Lab
Gene Symbol Bend3
Ensembl Gene ENSMUSG00000038214
Gene Name BEN domain containing 3
Synonyms
MMRRC Submission 041605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3854 (G1)
Quality Score 146
Status Validated
Chromosome 10
Chromosomal Location 43355130-43391413 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) AAGGACCA to AA at 43386713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040147] [ENSMUST00000167488] [ENSMUST00000214116] [ENSMUST00000216679]
AlphaFold Q6PAL0
Predicted Effect probably benign
Transcript: ENSMUST00000040147
SMART Domains Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214

DomainStartEndE-ValueType
low complexity region 159 172 N/A INTRINSIC
BEN 261 340 1.76e-15 SMART
BEN 405 484 5.75e-20 SMART
BEN 568 647 4.71e-16 SMART
low complexity region 674 690 N/A INTRINSIC
low complexity region 704 715 N/A INTRINSIC
BEN 734 813 1.02e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167488
SMART Domains Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214

DomainStartEndE-ValueType
low complexity region 159 172 N/A INTRINSIC
BEN 261 340 1.76e-15 SMART
BEN 405 484 5.75e-20 SMART
BEN 568 647 4.71e-16 SMART
low complexity region 674 690 N/A INTRINSIC
low complexity region 704 715 N/A INTRINSIC
BEN 734 813 1.02e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214116
Predicted Effect probably benign
Transcript: ENSMUST00000216679
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.2%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T C 2: 58,352,946 (GRCm39) K338R probably damaging Het
Adar C T 3: 89,643,565 (GRCm39) P482L probably damaging Het
Adh5 A G 3: 138,156,776 (GRCm39) D154G probably benign Het
Apoa1 A G 9: 46,141,521 (GRCm39) S206G probably benign Het
Aspdh T C 7: 44,115,613 (GRCm39) V5A possibly damaging Het
C2cd3 A T 7: 100,103,808 (GRCm39) probably null Het
Ccdc87 A G 19: 4,889,546 (GRCm39) I13V probably benign Het
Cd163 A T 6: 124,288,525 (GRCm39) N319Y probably damaging Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Ceacam2 T C 7: 25,238,227 (GRCm39) S66G probably benign Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Clhc1 T C 11: 29,521,789 (GRCm39) C441R probably damaging Het
Clstn2 G A 9: 97,345,648 (GRCm39) Q567* probably null Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Daam2 T C 17: 49,765,624 (GRCm39) N1093S probably benign Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eml6 C T 11: 29,699,905 (GRCm39) A1744T possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbll1 T A 11: 35,688,526 (GRCm39) T246S probably benign Het
Fbln2 A T 6: 91,243,353 (GRCm39) T910S probably damaging Het
Fcna C T 2: 25,517,784 (GRCm39) G22D possibly damaging Het
Gadl1 G T 9: 115,835,732 (GRCm39) E387* probably null Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Lbr G A 1: 181,659,280 (GRCm39) T167I probably benign Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Muc2 A G 7: 141,308,081 (GRCm39) H420R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or10z1 T A 1: 174,077,716 (GRCm39) Y259F probably damaging Het
Or1p1c A T 11: 74,161,105 (GRCm39) K297* probably null Het
Or51r1 T G 7: 102,228,227 (GRCm39) L175R probably damaging Het
Pgap3 T C 11: 98,281,638 (GRCm39) T187A possibly damaging Het
Pus10 T C 11: 23,653,003 (GRCm39) probably null Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sag T C 1: 87,752,240 (GRCm39) probably benign Het
Serpinb9e A G 13: 33,439,137 (GRCm39) I188V probably benign Het
Shcbp1l A T 1: 153,328,190 (GRCm39) I634F probably damaging Het
Slc6a16 T A 7: 44,917,596 (GRCm39) C485S probably damaging Het
Vmn1r215 A C 13: 23,260,058 (GRCm39) M33L probably benign Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign Het
Other mutations in Bend3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bend3 APN 10 43,387,539 (GRCm39) missense probably damaging 1.00
IGL00977:Bend3 APN 10 43,386,945 (GRCm39) missense possibly damaging 0.95
IGL00980:Bend3 APN 10 43,387,562 (GRCm39) missense probably damaging 1.00
IGL02457:Bend3 APN 10 43,385,946 (GRCm39) missense probably damaging 0.99
PIT4515001:Bend3 UTSW 10 43,386,630 (GRCm39) missense probably damaging 0.98
R0148:Bend3 UTSW 10 43,387,946 (GRCm39) missense probably damaging 1.00
R1484:Bend3 UTSW 10 43,386,197 (GRCm39) missense probably benign
R2046:Bend3 UTSW 10 43,387,842 (GRCm39) missense probably damaging 1.00
R2098:Bend3 UTSW 10 43,386,500 (GRCm39) missense probably damaging 1.00
R3419:Bend3 UTSW 10 43,385,978 (GRCm39) missense probably damaging 1.00
R4449:Bend3 UTSW 10 43,388,079 (GRCm39) missense possibly damaging 0.90
R4765:Bend3 UTSW 10 43,386,746 (GRCm39) missense probably damaging 1.00
R5070:Bend3 UTSW 10 43,369,681 (GRCm39) missense probably damaging 0.99
R5299:Bend3 UTSW 10 43,369,686 (GRCm39) critical splice donor site probably null
R5456:Bend3 UTSW 10 43,386,542 (GRCm39) missense probably damaging 1.00
R5530:Bend3 UTSW 10 43,387,722 (GRCm39) missense probably damaging 1.00
R5976:Bend3 UTSW 10 43,386,540 (GRCm39) missense probably benign 0.00
R6173:Bend3 UTSW 10 43,385,864 (GRCm39) missense probably benign 0.00
R7227:Bend3 UTSW 10 43,387,401 (GRCm39) missense probably damaging 1.00
R7256:Bend3 UTSW 10 43,369,667 (GRCm39) missense probably benign 0.12
R8273:Bend3 UTSW 10 43,386,899 (GRCm39) missense probably damaging 1.00
R9328:Bend3 UTSW 10 43,387,419 (GRCm39) missense possibly damaging 0.89
R9739:Bend3 UTSW 10 43,385,847 (GRCm39) missense possibly damaging 0.95
RF010:Bend3 UTSW 10 43,386,180 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CCGCAACTACGTAGAGGTCTAC -3'
(R):5'- TGCATGTCAGGGAAGTAGATCTC -3'

Sequencing Primer
(F):5'- GGTCTACTACCCCAATGTGAAGG -3'
(R):5'- ATGATCTGCAGCCTCTGGG -3'
Posted On 2015-04-06