Incidental Mutation 'R0884:Bend7'
ID81003
Institutional Source Beutler Lab
Gene Symbol Bend7
Ensembl Gene ENSMUSG00000048186
Gene NameBEN domain containing 7
Synonyms
MMRRC Submission 039051-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0884 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location4717831-4802142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4744244 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 57 (K57N)
Ref Sequence ENSEMBL: ENSMUSP00000139220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056914] [ENSMUST00000115022] [ENSMUST00000184139]
Predicted Effect probably damaging
Transcript: ENSMUST00000056914
AA Change: K57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052458
Gene: ENSMUSG00000048186
AA Change: K57N

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: K57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110674
Gene: ENSMUSG00000048186
AA Change: K57N

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: K57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139220
Gene: ENSMUSG00000048186
AA Change: K57N

DomainStartEndE-ValueType
low complexity region 213 220 N/A INTRINSIC
BEN 311 395 5.12e-17 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,553,288 I844N possibly damaging Het
Acbd3 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 1: 180,747,059 probably benign Het
Adam6b A T 12: 113,490,995 R477S probably damaging Het
Aqp7 T A 4: 41,034,929 T175S possibly damaging Het
Bclaf1 A T 10: 20,322,076 R22* probably null Het
Bicc1 A C 10: 70,958,847 V160G probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Cep72 A G 13: 74,054,881 probably null Het
Cobl A G 11: 12,375,908 I196T possibly damaging Het
Cux1 T G 5: 136,307,835 D941A probably damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Depdc5 T A 5: 32,917,978 V500D possibly damaging Het
Dhx35 T C 2: 158,831,711 I354T probably damaging Het
Dnase1l2 A G 17: 24,441,880 V170A possibly damaging Het
Eif4g3 C A 4: 138,151,776 N588K possibly damaging Het
Epsti1 A T 14: 77,931,275 R117S probably damaging Het
Fam53a T C 5: 33,600,816 E321G probably benign Het
Fat4 C A 3: 38,982,858 T3553K possibly damaging Het
Fer1l4 T C 2: 156,019,313 T1978A possibly damaging Het
Gabarapl2 A T 8: 111,942,505 I32F probably damaging Het
Gje1 G T 10: 14,716,740 S99R possibly damaging Het
Gm13083 A G 4: 143,615,184 D61G probably benign Het
Gosr1 A G 11: 76,730,146 I239T probably benign Het
Gpnmb T C 6: 49,047,913 V293A possibly damaging Het
Hyi T A 4: 118,360,217 I62N probably damaging Het
Il4ra A G 7: 125,574,663 I267V probably damaging Het
Kcnd2 A T 6: 21,216,541 Q81H probably benign Het
Ksr1 A T 11: 79,021,503 H675Q possibly damaging Het
Lpcat4 A G 2: 112,242,732 N208S probably damaging Het
Muc3 T A 5: 137,142,298 T162S possibly damaging Het
Mup3 T A 4: 62,087,174 I20F possibly damaging Het
Nebl A C 2: 17,411,118 S327A probably benign Het
Nfatc4 A C 14: 55,826,644 D126A probably damaging Het
Nmt2 A T 2: 3,314,785 R271* probably null Het
Nol7 G A 13: 43,400,615 V133I probably benign Het
Olfr376 A T 11: 73,374,889 I47F probably benign Het
Olfr610 C T 7: 103,506,862 W28* probably null Het
Pde4d A T 13: 109,950,940 I670L probably damaging Het
Phlpp1 T A 1: 106,389,665 probably null Het
Pigz A G 16: 31,941,976 probably null Het
Prrg4 A T 2: 104,839,362 Y137N probably damaging Het
Rbm28 A T 6: 29,155,154 S217T possibly damaging Het
Ryr2 T C 13: 11,554,529 D4963G probably damaging Het
Slc35b2 T A 17: 45,566,825 F293I probably damaging Het
Slc35f1 A T 10: 53,089,347 Y286F probably damaging Het
Slc6a18 G T 13: 73,667,037 A384D probably damaging Het
St5 A G 7: 109,557,345 L66P probably damaging Het
Syt9 A G 7: 107,436,561 I262V probably damaging Het
Tln2 C A 9: 67,370,733 R333L probably damaging Het
Tnrc6b ACAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAG 15: 80,902,555 probably benign Het
Ttn G A 2: 76,751,066 T14834I possibly damaging Het
Uggt1 T C 1: 36,175,078 S177G probably benign Het
Zfp454 A G 11: 50,873,937 S223P probably benign Het
Zmat4 A G 8: 24,015,127 T128A probably benign Het
Other mutations in Bend7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Bend7 APN 2 4763305 critical splice donor site probably null
R0743:Bend7 UTSW 2 4744244 missense probably damaging 1.00
R1459:Bend7 UTSW 2 4744428 missense probably damaging 0.96
R1544:Bend7 UTSW 2 4763311 splice site probably benign
R2344:Bend7 UTSW 2 4788534 missense probably damaging 1.00
R4372:Bend7 UTSW 2 4749610 missense probably damaging 1.00
R4838:Bend7 UTSW 2 4744322 missense probably damaging 1.00
R5226:Bend7 UTSW 2 4752978 nonsense probably null
R5291:Bend7 UTSW 2 4763241 missense probably damaging 1.00
R5292:Bend7 UTSW 2 4763241 missense probably damaging 1.00
R5347:Bend7 UTSW 2 4763241 missense probably damaging 1.00
R5695:Bend7 UTSW 2 4763241 missense probably damaging 1.00
R5729:Bend7 UTSW 2 4763274 missense probably damaging 1.00
R5816:Bend7 UTSW 2 4744332 missense probably damaging 1.00
R5816:Bend7 UTSW 2 4752899 missense probably benign 0.18
R5944:Bend7 UTSW 2 4744356 missense probably damaging 1.00
R6127:Bend7 UTSW 2 4763277 missense probably damaging 1.00
R6185:Bend7 UTSW 2 4788522 missense probably damaging 1.00
R7288:Bend7 UTSW 2 4752830 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCTTGCTGAATGATTTCAGAGTGTGGA -3'
(R):5'- TGGACCAGACTGCCCTGAGAACTG -3'

Sequencing Primer
(F):5'- AGAGTGTGGAATCAGTATTTTTTCCC -3'
(R):5'- TGAGAACTGCCCGCTTTG -3'
Posted On2013-11-07