Incidental Mutation 'R0743:Bend7'
ID 70751
Institutional Source Beutler Lab
Gene Symbol Bend7
Ensembl Gene ENSMUSG00000048186
Gene Name BEN domain containing 7
Synonyms E130319B15Rik, 1110017O21Rik
MMRRC Submission 038924-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0743 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 4722642-4806953 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4749055 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BSV3
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: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,790,700 (GRCm39) I844N possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Csmd2 A T 4: 128,007,469 (GRCm39) T149S probably benign Het
Cyp2a12 T C 7: 26,731,967 (GRCm39) I236T probably benign Het
Dennd2b A G 7: 109,156,552 (GRCm39) L66P probably damaging Het
Dnase1l2 A G 17: 24,660,854 (GRCm39) V170A possibly damaging Het
Dnm2 T A 9: 21,411,561 (GRCm39) Y597N probably damaging Het
Epsti1 A T 14: 78,168,715 (GRCm39) R117S probably damaging Het
Gabarapl2 A T 8: 112,669,137 (GRCm39) I32F probably damaging Het
Glrb T A 3: 80,786,987 (GRCm39) I59F probably damaging Het
Gosr1 A G 11: 76,620,972 (GRCm39) I239T probably benign Het
Kif5b G T 18: 6,209,192 (GRCm39) R857S probably damaging Het
Kmt5a C A 5: 124,585,282 (GRCm39) N44K probably damaging Het
Ksr1 A T 11: 78,912,329 (GRCm39) H675Q possibly damaging Het
Mep1b A G 18: 21,213,515 (GRCm39) D68G possibly damaging Het
Nebl A C 2: 17,415,929 (GRCm39) S327A probably benign Het
Nfat5 G A 8: 108,094,698 (GRCm39) E962K probably damaging Het
Nfatc4 A C 14: 56,064,101 (GRCm39) D126A probably damaging Het
Nmt2 A T 2: 3,315,822 (GRCm39) R271* probably null Het
Nol7 G A 13: 43,554,091 (GRCm39) V133I probably benign Het
Npepps A G 11: 97,096,884 (GRCm39) probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 103,899,967 (GRCm39) probably benign Het
Or1e1c A T 11: 73,265,715 (GRCm39) I47F probably benign Het
Or51ag1 C T 7: 103,156,069 (GRCm39) W28* probably null Het
Or6c66 T A 10: 129,461,712 (GRCm39) T73S probably benign Het
Or8h10 G A 2: 86,808,843 (GRCm39) T99I probably benign Het
Ovgp1 T A 3: 105,882,248 (GRCm39) L37H probably damaging Het
Padi3 G T 4: 140,513,740 (GRCm39) A646D probably benign Het
Pamr1 A G 2: 102,440,252 (GRCm39) E142G probably damaging Het
Papolg A T 11: 23,820,818 (GRCm39) probably null Het
Pate8 T C 9: 36,492,597 (GRCm39) S103G probably benign Het
Pfkl C T 10: 77,831,077 (GRCm39) probably null Het
Plrg1 T C 3: 82,967,224 (GRCm39) S132P probably benign Het
Pramel23 A T 4: 143,425,134 (GRCm39) I103N probably damaging Het
Prr14l C A 5: 32,988,538 (GRCm39) C319F possibly damaging Het
Prtn3 T A 10: 79,715,511 (GRCm39) M1K probably null Het
Ptpn22 T C 3: 103,809,487 (GRCm39) F700S probably damaging Het
Ptprz1 C T 6: 23,044,366 (GRCm39) Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ryr2 T C 13: 11,569,415 (GRCm39) D4963G probably damaging Het
Sec16a G A 2: 26,309,734 (GRCm39) L2091F possibly damaging Het
Senp6 C T 9: 80,000,871 (GRCm39) R27C probably damaging Het
Shcbp1 T A 8: 4,814,906 (GRCm39) M191L probably benign Het
Sirt4 T C 5: 115,621,014 (GRCm39) K53E probably benign Het
Slc10a2 A G 8: 5,139,132 (GRCm39) S271P probably damaging Het
Slc35b2 T A 17: 45,877,751 (GRCm39) F293I probably damaging Het
Slc38a10 C T 11: 120,031,469 (GRCm39) V103M probably damaging Het
Stab2 T A 10: 86,723,759 (GRCm39) I1479F probably damaging Het
Synpo2 A G 3: 122,906,355 (GRCm39) V987A probably benign Het
Syt9 A G 7: 107,035,768 (GRCm39) I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 54,879,857 (GRCm39) probably benign Het
Tmem39a A T 16: 38,405,764 (GRCm39) I200F probably damaging Het
Ttn G A 2: 76,579,613 (GRCm39) T23760M probably damaging Het
Uqcrc1 C T 9: 108,773,773 (GRCm39) Q22* probably null Het
Wdtc1 A G 4: 133,027,972 (GRCm39) W377R probably damaging Het
Zfp454 A G 11: 50,764,764 (GRCm39) S223P probably benign Het
Other mutations in Bend7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Bend7 APN 2 4,768,116 (GRCm39) critical splice donor site probably null
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
R5944:Bend7 UTSW 2 4,749,167 (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'- AGCTTGCTGAATGATTTCAGAGTGTGGA -3'
(R):5'- TGGACCAGACTGCCCTGAGAACTG -3'

Sequencing Primer
(F):5'- AGAGTGTGGAATCAGTATTTTTTCCC -3'
(R):5'- TGAGAACTGCCCGCTTTG -3'
Posted On 2013-09-30