Incidental Mutation 'R4449:Bend3'
ID 328891
Institutional Source Beutler Lab
Gene Symbol Bend3
Ensembl Gene ENSMUSG00000038214
Gene Name BEN domain containing 3
Synonyms
MMRRC Submission 041710-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4449 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 43355130-43391413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43388079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 824 (E824G)
Ref Sequence ENSEMBL: ENSMUSP00000127351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040147] [ENSMUST00000167488] [ENSMUST00000214116] [ENSMUST00000216679]
AlphaFold Q6PAL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040147
AA Change: E824G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: E824G

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 possibly damaging
Transcript: ENSMUST00000167488
AA Change: E824G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: E824G

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
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 A T 15: 83,218,759 (GRCm39) Y105N probably damaging Het
Arid3b T A 9: 57,705,404 (GRCm39) K266* probably null Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Cadm1 T A 9: 47,725,286 (GRCm39) probably benign Het
Cadm1 C T 9: 47,441,735 (GRCm39) A22V possibly damaging Het
Cntrob C A 11: 69,196,375 (GRCm39) D687Y probably benign Het
Dap3 A T 3: 88,857,185 (GRCm39) probably benign Het
Ddc T C 11: 11,785,802 (GRCm39) D295G probably damaging Het
Fut10 T A 8: 31,726,285 (GRCm39) Y347N probably damaging Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Helz T C 11: 107,494,989 (GRCm39) V321A probably benign Het
Hnrnpul1 T C 7: 25,421,709 (GRCm39) probably benign Het
Hsdl2 T A 4: 59,617,692 (GRCm39) I353K possibly damaging Het
Igkv3-2 G A 6: 70,675,825 (GRCm39) A45T probably benign Het
Kcnh6 A G 11: 105,909,762 (GRCm39) Y429C probably damaging Het
Luzp1 T A 4: 136,268,174 (GRCm39) N132K probably damaging Het
Mlycd T A 8: 120,137,144 (GRCm39) Y455N probably damaging Het
Myl7 C T 11: 5,847,354 (GRCm39) D115N probably damaging Het
Or52s1 A T 7: 102,861,687 (GRCm39) I196F probably benign Het
Pcdh7 A G 5: 57,877,827 (GRCm39) T461A probably damaging Het
Pi4kb C T 3: 94,892,046 (GRCm39) S254L probably benign Het
Pitpnc1 A G 11: 107,107,535 (GRCm39) V257A probably benign Het
Prpf40b A G 15: 99,212,544 (GRCm39) D596G probably damaging Het
Rngtt T C 4: 33,330,865 (GRCm39) F156S probably damaging Het
Sema3c A G 5: 17,781,844 (GRCm39) probably benign Het
Shisa6 T C 11: 66,416,244 (GRCm39) T183A probably benign Het
Skint3 T A 4: 112,127,206 (GRCm39) V287E possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc17a3 A T 13: 24,040,715 (GRCm39) S392C probably damaging Het
Snx14 T C 9: 88,305,052 (GRCm39) I81V probably benign Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Trappc12 A T 12: 28,797,234 (GRCm39) D99E probably benign Het
Trim34b T C 7: 103,984,935 (GRCm39) C318R probably benign Het
Ttc39a T C 4: 109,299,500 (GRCm39) I449T possibly damaging Het
Twsg1 A C 17: 66,233,305 (GRCm39) V215G possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ubr1 A G 2: 120,776,862 (GRCm39) V293A possibly damaging Het
Unk G A 11: 115,944,460 (GRCm39) G404S probably damaging Het
Virma T C 4: 11,498,828 (GRCm39) probably null Het
Vps13b T C 15: 35,876,939 (GRCm39) V2864A possibly damaging Het
Wdfy4 T A 14: 32,818,040 (GRCm39) R1492W probably damaging Het
Zcchc3 G C 2: 152,256,642 (GRCm39) P19R 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
R3854:Bend3 UTSW 10 43,386,713 (GRCm39) unclassified probably benign
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'- GGAACTCTTCACGACCGAGAAC -3'
(R):5'- CAAGGCTTCTTTCTTGTGGC -3'

Sequencing Primer
(F):5'- ACTCCGGGGCTTGTAACAAG -3'
(R):5'- CTTCTTTCTTGTGGCTGGGTAG -3'
Posted On 2015-07-21