Incidental Mutation 'R5944:Bend7'
ID 460461
Institutional Source Beutler Lab
Gene Symbol Bend7
Ensembl Gene ENSMUSG00000048186
Gene Name BEN domain containing 7
Synonyms E130319B15Rik, 1110017O21Rik
MMRRC Submission 044136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5944 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 4722642-4806953 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4749167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 95 (W95R)
Ref Sequence ENSEMBL: ENSMUSP00000139220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056914] [ENSMUST00000115022] [ENSMUST00000184139]
AlphaFold Q8BSV3
Predicted Effect probably damaging
Transcript: ENSMUST00000056914
AA Change: W95R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: W95R

DomainStartEndE-ValueType
low complexity region 213 220 N/A INTRINSIC
BEN 311 395 5.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115022
AA Change: W95R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: W95R

DomainStartEndE-ValueType
low complexity region 213 220 N/A INTRINSIC
BEN 311 395 5.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184139
AA Change: W95R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: W95R

DomainStartEndE-ValueType
low complexity region 213 220 N/A INTRINSIC
BEN 311 395 5.12e-17 SMART
Meta Mutation Damage Score 0.2462 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 86% (51/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G T 5: 114,384,041 (GRCm39) R2190L probably damaging Het
Ankrd17 C T 5: 90,433,702 (GRCm39) R689H probably damaging Het
Apol7b A T 15: 77,307,967 (GRCm39) V176E probably damaging Het
Arsg T C 11: 109,426,137 (GRCm39) F319S probably damaging Het
Bcar3 T A 3: 122,316,932 (GRCm39) D634E probably benign Het
Cenpj A G 14: 56,791,115 (GRCm39) probably null Het
Cfap91 G T 16: 38,148,672 (GRCm39) T252N probably damaging Het
Clasrp A T 7: 19,328,431 (GRCm39) Y116N probably damaging Het
Cldn17 T C 16: 88,303,597 (GRCm39) E44G probably damaging Het
Cyfip1 G A 7: 55,521,878 (GRCm39) E61K probably damaging Het
Dcaf13 A C 15: 39,010,072 (GRCm39) M419L probably benign Het
Eml4 A G 17: 83,753,472 (GRCm39) D269G possibly damaging Het
Fap T C 2: 62,372,605 (GRCm39) Y258C probably damaging Het
Fdxr T A 11: 115,160,672 (GRCm39) T288S probably benign Het
Frs3 T C 17: 48,003,233 (GRCm39) probably benign Het
Gm5581 T A 6: 131,145,363 (GRCm39) noncoding transcript Het
Gm7964 A G 7: 83,405,743 (GRCm39) D187G probably benign Het
Gpc5 T C 14: 115,607,250 (GRCm39) V284A probably benign Het
Hspa9 T C 18: 35,082,076 (GRCm39) T177A possibly damaging Het
Ifi202b T A 1: 173,791,365 (GRCm39) M438L probably benign Het
Ighv1-3 T C 12: 114,445,239 (GRCm39) probably benign Het
Krt36 G T 11: 99,996,139 (GRCm39) A95E probably benign Het
Krt9 C T 11: 100,079,265 (GRCm39) S709N unknown Het
Lmntd1 A T 6: 145,373,042 (GRCm39) S164T probably damaging Het
Or14c41 T A 7: 86,234,486 (GRCm39) M1K probably null Het
Or2ag1b A T 7: 106,288,853 (GRCm39) C28* probably null Het
Or52n4b G A 7: 108,144,484 (GRCm39) A249T possibly damaging Het
Or5b94 C T 19: 12,652,283 (GRCm39) T238I probably damaging Het
Or7a41 A T 10: 78,871,223 (GRCm39) M198L probably benign Het
Papola T A 12: 105,778,644 (GRCm39) F341I possibly damaging Het
Phf3 A G 1: 30,859,785 (GRCm39) L914P probably damaging Het
Sec24d T C 3: 123,087,230 (GRCm39) V132A probably benign Het
Serpini1 G A 3: 75,547,606 (GRCm39) D373N probably damaging Het
Sigirr T C 7: 140,671,300 (GRCm39) Y394C probably damaging Het
Slc29a4 G A 5: 142,704,573 (GRCm39) E372K probably damaging Het
Slc7a4 C T 16: 17,392,220 (GRCm39) V405I possibly damaging Het
Spatc1 T C 15: 76,168,138 (GRCm39) L199P probably damaging Het
Srgap3 T C 6: 112,772,775 (GRCm39) M149V possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stat3 C T 11: 100,785,931 (GRCm39) A449T probably damaging Het
Stat4 A G 1: 52,113,898 (GRCm39) N203D probably damaging Het
Tanc1 T C 2: 59,667,564 (GRCm39) probably null Het
Trav3-1 T C 14: 52,818,449 (GRCm39) I41T probably benign Het
Usp34 T A 11: 23,313,089 (GRCm39) D525E probably damaging Het
Vars1 T C 17: 35,232,620 (GRCm39) V848A probably damaging Het
Vmn2r101 A T 17: 19,809,769 (GRCm39) D185V probably benign Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Bend7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Bend7 APN 2 4,768,116 (GRCm39) critical splice donor site probably null
R0743:Bend7 UTSW 2 4,749,055 (GRCm39) missense probably damaging 1.00
R0884:Bend7 UTSW 2 4,749,055 (GRCm39) missense probably damaging 1.00
R1459:Bend7 UTSW 2 4,749,239 (GRCm39) missense probably damaging 0.96
R1544:Bend7 UTSW 2 4,768,122 (GRCm39) splice site probably benign
R2344:Bend7 UTSW 2 4,793,345 (GRCm39) missense probably damaging 1.00
R4372:Bend7 UTSW 2 4,754,421 (GRCm39) missense probably damaging 1.00
R4838:Bend7 UTSW 2 4,749,133 (GRCm39) missense probably damaging 1.00
R5226:Bend7 UTSW 2 4,757,789 (GRCm39) nonsense probably null
R5291:Bend7 UTSW 2 4,768,052 (GRCm39) missense probably damaging 1.00
R5292:Bend7 UTSW 2 4,768,052 (GRCm39) missense probably damaging 1.00
R5347:Bend7 UTSW 2 4,768,052 (GRCm39) missense probably damaging 1.00
R5695:Bend7 UTSW 2 4,768,052 (GRCm39) missense probably damaging 1.00
R5729:Bend7 UTSW 2 4,768,085 (GRCm39) missense probably damaging 1.00
R5816:Bend7 UTSW 2 4,757,710 (GRCm39) missense probably benign 0.18
R5816:Bend7 UTSW 2 4,749,143 (GRCm39) missense probably damaging 1.00
R6127:Bend7 UTSW 2 4,768,088 (GRCm39) missense probably damaging 1.00
R6185:Bend7 UTSW 2 4,793,333 (GRCm39) missense probably damaging 1.00
R7288:Bend7 UTSW 2 4,757,641 (GRCm39) missense probably damaging 0.98
R7524:Bend7 UTSW 2 4,804,791 (GRCm39) missense probably benign 0.00
R7797:Bend7 UTSW 2 4,754,455 (GRCm39) missense probably damaging 0.96
R8022:Bend7 UTSW 2 4,757,590 (GRCm39) missense probably benign 0.00
R8141:Bend7 UTSW 2 4,757,636 (GRCm39) missense probably benign 0.00
R8156:Bend7 UTSW 2 4,757,665 (GRCm39) missense probably benign 0.05
R8710:Bend7 UTSW 2 4,767,925 (GRCm39) missense probably benign 0.35
R8995:Bend7 UTSW 2 4,749,103 (GRCm39) missense probably damaging 1.00
R9332:Bend7 UTSW 2 4,757,531 (GRCm39) missense probably benign 0.00
R9460:Bend7 UTSW 2 4,749,302 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CAGTGCTAACTCTGACCCTG -3'
(R):5'- AAAGGACAAACTCCGTATTCAGG -3'

Sequencing Primer
(F):5'- GACCCTGTTTCCATTAGGAGAC -3'
(R):5'- TTTTGGACAATCGTACCATTGG -3'
Posted On 2017-02-28