Incidental Mutation 'R5871:Bend6'
ID 455169
Institutional Source Beutler Lab
Gene Symbol Bend6
Ensembl Gene ENSMUSG00000042182
Gene Name BEN domain containing 6
Synonyms B230209C24Rik
MMRRC Submission 043234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.184) question?
Stock # R5871 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 33891133-33946897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33902946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 135 (M135V)
Ref Sequence ENSEMBL: ENSMUSP00000110814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062289] [ENSMUST00000115161] [ENSMUST00000129464]
AlphaFold Q6PFX2
Predicted Effect probably damaging
Transcript: ENSMUST00000062289
AA Change: M197V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052919
Gene: ENSMUSG00000042182
AA Change: M197V

DomainStartEndE-ValueType
coiled coil region 19 40 N/A INTRINSIC
coiled coil region 61 100 N/A INTRINSIC
low complexity region 143 160 N/A INTRINSIC
BEN 190 271 4.6e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115161
AA Change: M135V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110814
Gene: ENSMUSG00000042182
AA Change: M135V

DomainStartEndE-ValueType
coiled coil region 1 38 N/A INTRINSIC
low complexity region 81 98 N/A INTRINSIC
BEN 128 209 5.67e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126724
Predicted Effect probably benign
Transcript: ENSMUST00000129464
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195350
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A T 1: 173,159,640 (GRCm39) L293Q probably damaging Het
Ankrd13d A G 19: 4,332,022 (GRCm39) V92A possibly damaging Het
Anxa5 T A 3: 36,506,398 (GRCm39) Q218L possibly damaging Het
Ccr5 T C 9: 123,924,558 (GRCm39) F54L probably benign Het
Chrng T C 1: 87,134,451 (GRCm39) V164A possibly damaging Het
Clca3a1 T G 3: 144,460,642 (GRCm39) S271R probably damaging Het
Csmd3 G A 15: 47,752,112 (GRCm39) T1282I probably damaging Het
Dock10 C A 1: 80,519,057 (GRCm39) probably null Het
Esrrb A G 12: 86,552,661 (GRCm39) Y196C probably benign Het
Fam76a T C 4: 132,631,321 (GRCm39) D208G probably damaging Het
Fancd2 A G 6: 113,533,243 (GRCm39) E520G probably benign Het
Fgf9 A T 14: 58,320,656 (GRCm39) probably null Het
Gatb T A 3: 85,561,083 (GRCm39) L533* probably null Het
Igsf10 G T 3: 59,237,832 (GRCm39) A783D possibly damaging Het
Ldlrap1 A G 4: 134,486,240 (GRCm39) I73T probably damaging Het
Lrrc37 T C 11: 103,507,280 (GRCm39) probably benign Het
Msr1 G A 8: 40,064,693 (GRCm39) P327L probably damaging Het
Myo18a T C 11: 77,723,306 (GRCm39) Y823H probably damaging Het
Ncapg A G 5: 45,853,039 (GRCm39) E835G probably damaging Het
Nfam1 A G 15: 82,900,623 (GRCm39) S120P probably damaging Het
Or4k44 A G 2: 111,367,984 (GRCm39) S217P probably damaging Het
Or56a3 T C 7: 104,735,511 (GRCm39) V196A possibly damaging Het
Or8b49 T A 9: 38,505,628 (GRCm39) I37K possibly damaging Het
Or9m2 T C 2: 87,821,355 (GRCm39) F300S possibly damaging Het
Phtf2 A G 5: 20,999,399 (GRCm39) V248A probably benign Het
Pik3r3 G T 4: 116,143,355 (GRCm39) E283* probably null Het
Plcg2 T A 8: 118,230,956 (GRCm39) Y13N probably damaging Het
Pth2r C T 1: 65,427,796 (GRCm39) P490S probably damaging Het
Rnf40 T A 7: 127,190,757 (GRCm39) M275K probably damaging Het
Rpgrip1l T C 8: 91,948,014 (GRCm39) E1223G possibly damaging Het
Sec14l5 T A 16: 4,986,717 (GRCm39) N168K probably benign Het
Siglecf T C 7: 43,005,045 (GRCm39) V425A probably benign Het
Sorbs1 A G 19: 40,387,027 (GRCm39) V13A probably damaging Het
Svil T A 18: 5,103,669 (GRCm39) probably null Het
Tbrg1 A G 9: 37,562,278 (GRCm39) I300T probably damaging Het
Tnni3k T A 3: 154,736,007 (GRCm39) D112V probably benign Het
Ubxn1 A G 19: 8,851,576 (GRCm39) Q203R probably benign Het
Ugt1a7c A G 1: 88,023,381 (GRCm39) D180G possibly damaging Het
Usp14 A G 18: 9,996,234 (GRCm39) F449L probably benign Het
Wwc2 A G 8: 48,321,458 (GRCm39) L552P unknown Het
Zscan10 A G 17: 23,826,241 (GRCm39) probably benign Het
Other mutations in Bend6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Bend6 APN 1 33,922,619 (GRCm39) missense possibly damaging 0.95
IGL02009:Bend6 APN 1 33,901,827 (GRCm39) missense probably benign 0.00
R0408:Bend6 UTSW 1 33,901,834 (GRCm39) missense probably damaging 1.00
R1449:Bend6 UTSW 1 33,917,424 (GRCm39) missense probably benign 0.00
R1469:Bend6 UTSW 1 33,903,824 (GRCm39) missense probably benign 0.24
R1469:Bend6 UTSW 1 33,903,824 (GRCm39) missense probably benign 0.24
R4836:Bend6 UTSW 1 33,922,654 (GRCm39) utr 5 prime probably benign
R5818:Bend6 UTSW 1 33,922,654 (GRCm39) utr 5 prime probably benign
R5995:Bend6 UTSW 1 33,917,520 (GRCm39) critical splice acceptor site probably null
R6196:Bend6 UTSW 1 33,917,509 (GRCm39) missense probably damaging 0.99
Z1176:Bend6 UTSW 1 33,903,604 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- GGTAACATCATTTCATGTTCATGGG -3'
(R):5'- GAATAAAAGCAGCTTTTCCTCTGAG -3'

Sequencing Primer
(F):5'- TTTCATGTTCATGGGAAAATACAATG -3'
(R):5'- GGTAAATAGCACCTTAGAGCATTGC -3'
Posted On 2017-02-10