Incidental Mutation 'IGL03379:Bend5'
ID 420620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bend5
Ensembl Gene ENSMUSG00000028545
Gene Name BEN domain containing 5
Synonyms 2310026E23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL03379
Quality Score
Status
Chromosome 4
Chromosomal Location 111272203-111317495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111311468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 361 (S361T)
Ref Sequence ENSEMBL: ENSMUSP00000030274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030274] [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]
AlphaFold Q8C6D4
Predicted Effect probably benign
Transcript: ENSMUST00000030274
AA Change: S361T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: S361T

DomainStartEndE-ValueType
coiled coil region 180 242 N/A INTRINSIC
BEN 322 397 4.7e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080744
SMART Domains Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097920
SMART Domains Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 465 3.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106591
SMART Domains Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Pfam:Peptidase_M14 174 321 3.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106592
SMART Domains Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 169 436 4.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129760
Predicted Effect probably benign
Transcript: ENSMUST00000148038
SMART Domains Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298

DomainStartEndE-ValueType
Zn_pept 15 267 9.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139876
SMART Domains Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545

DomainStartEndE-ValueType
coiled coil region 50 112 N/A INTRINSIC
Blast:BEN 115 150 8e-13 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,809,602 (GRCm39) T260A probably damaging Het
Arhgap21 A G 2: 20,885,500 (GRCm39) V559A probably benign Het
Arrdc5 G A 17: 56,601,589 (GRCm39) Q179* probably null Het
Atrnl1 T C 19: 57,630,973 (GRCm39) Y247H probably benign Het
Cdc20b A G 13: 113,217,736 (GRCm39) D385G probably damaging Het
Cep120 C T 18: 53,842,208 (GRCm39) S709N probably benign Het
Eif2b4 A G 5: 31,347,355 (GRCm39) probably benign Het
Eif2s1 T A 12: 78,913,354 (GRCm39) D18E probably benign Het
Etl4 G A 2: 20,666,827 (GRCm39) S209N possibly damaging Het
Farp2 T A 1: 93,535,160 (GRCm39) F636L probably benign Het
Fcgbp A T 7: 27,789,342 (GRCm39) D636V possibly damaging Het
Gm5082 T C 13: 41,809,902 (GRCm39) noncoding transcript Het
Gtf2ird1 C T 5: 134,411,392 (GRCm39) G672D possibly damaging Het
Heatr3 A G 8: 88,876,738 (GRCm39) K143R probably benign Het
Hrc A G 7: 44,986,679 (GRCm39) E610G probably benign Het
Ica1l G A 1: 60,036,780 (GRCm39) S337F probably benign Het
Ighv1-43 T C 12: 114,909,625 (GRCm39) Y99C probably benign Het
Kcna3 T A 3: 106,944,521 (GRCm39) F261L probably benign Het
Kdm4d T C 9: 14,375,139 (GRCm39) R240G probably damaging Het
Kidins220 T A 12: 25,058,447 (GRCm39) I620N probably damaging Het
Kif5c A G 2: 49,591,104 (GRCm39) M55V probably damaging Het
Oas1a A T 5: 121,035,062 (GRCm39) L366Q possibly damaging Het
Or5p68 T C 7: 107,946,196 (GRCm39) probably benign Het
Pds5b T C 5: 150,711,796 (GRCm39) V918A probably damaging Het
Plcz1 G A 6: 139,936,490 (GRCm39) L580F possibly damaging Het
Prlr C A 15: 10,319,403 (GRCm39) P147T possibly damaging Het
Ptpn18 A T 1: 34,509,338 (GRCm39) probably null Het
Ptprt A T 2: 161,397,379 (GRCm39) C1109* probably null Het
Ralgapa2 A T 2: 146,199,907 (GRCm39) S1212R probably benign Het
Scn2b T A 9: 45,037,498 (GRCm39) C182S probably damaging Het
Slc7a14 A T 3: 31,277,664 (GRCm39) M647K probably damaging Het
Sult2a6 G A 7: 13,956,511 (GRCm39) T250I probably benign Het
Syn3 A T 10: 85,900,736 (GRCm39) M384K possibly damaging Het
Tmem8b A G 4: 43,685,561 (GRCm39) T596A probably benign Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Vat1l A T 8: 115,009,006 (GRCm39) I247F probably damaging Het
Vmn2r110 T C 17: 20,803,906 (GRCm39) D223G probably damaging Het
Wdr11 T A 7: 129,200,847 (GRCm39) D99E probably damaging Het
Zan C T 5: 137,462,477 (GRCm39) V901I unknown Het
Other mutations in Bend5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Bend5 APN 4 111,305,838 (GRCm39) missense probably damaging 0.99
IGL02083:Bend5 APN 4 111,316,964 (GRCm39) missense probably benign 0.44
IGL03202:Bend5 APN 4 111,290,441 (GRCm39) missense possibly damaging 0.79
PIT4378001:Bend5 UTSW 4 111,288,304 (GRCm39) missense probably benign
R0639:Bend5 UTSW 4 111,290,495 (GRCm39) missense probably benign 0.21
R1306:Bend5 UTSW 4 111,316,970 (GRCm39) nonsense probably null
R1535:Bend5 UTSW 4 111,316,960 (GRCm39) missense probably benign 0.06
R1768:Bend5 UTSW 4 111,311,438 (GRCm39) nonsense probably null
R2116:Bend5 UTSW 4 111,272,436 (GRCm39) missense probably benign 0.09
R2216:Bend5 UTSW 4 111,305,787 (GRCm39) missense probably null 0.00
R2256:Bend5 UTSW 4 111,288,207 (GRCm39) intron probably benign
R3927:Bend5 UTSW 4 111,305,802 (GRCm39) missense possibly damaging 0.91
R5408:Bend5 UTSW 4 111,311,280 (GRCm39) critical splice acceptor site probably null
R5841:Bend5 UTSW 4 111,290,667 (GRCm39) missense probably damaging 1.00
R7860:Bend5 UTSW 4 111,272,406 (GRCm39) missense probably damaging 0.98
R8063:Bend5 UTSW 4 111,317,031 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02