Incidental Mutation 'IGL02083:Bend5'
ID 283430
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 # IGL02083
Quality Score
Status
Chromosome 4
Chromosomal Location 111272203-111317495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111316964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 376 (I376L)
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: I376L

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: I376L

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 unknown
Transcript: ENSMUST00000139876
AA Change: I125L
SMART Domains Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545
AA Change: I125L

DomainStartEndE-ValueType
coiled coil region 50 112 N/A INTRINSIC
Blast:BEN 115 150 8e-13 BLAST
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,780,336 (GRCm39) L36V possibly damaging Het
Aoc1l1 G A 6: 48,953,194 (GRCm39) G373D probably damaging Het
Atp13a3 T C 16: 30,166,524 (GRCm39) T540A possibly damaging Het
Ccdc138 T C 10: 58,380,736 (GRCm39) probably benign Het
Cdh10 T A 15: 18,986,975 (GRCm39) I402N possibly damaging Het
Cfap44 T C 16: 44,257,525 (GRCm39) V1020A probably damaging Het
Chd2 A T 7: 73,130,816 (GRCm39) S749T possibly damaging Het
Enpp3 T A 10: 24,652,692 (GRCm39) D755V probably damaging Het
Fmo6 T A 1: 162,748,033 (GRCm39) K344* probably null Het
Gabbr1 A G 17: 37,380,957 (GRCm39) T767A possibly damaging Het
Gjd3 A G 11: 98,873,587 (GRCm39) S86P probably damaging Het
Grin1 A G 2: 25,188,513 (GRCm39) V432A possibly damaging Het
Igf2r A T 17: 12,912,079 (GRCm39) C1849* probably null Het
Jcad G T 18: 4,680,266 (GRCm39) probably benign Het
Mrgpra4 A T 7: 47,630,808 (GRCm39) C264* probably null Het
Naa80 G T 9: 107,460,798 (GRCm39) R231L probably benign Het
Napepld T C 5: 21,881,065 (GRCm39) Y110C probably damaging Het
Ncapd3 A G 9: 26,963,117 (GRCm39) E474G probably damaging Het
Pkhd1 T A 1: 20,271,451 (GRCm39) D3034V probably damaging Het
Plxnc1 T C 10: 94,758,587 (GRCm39) T370A possibly damaging Het
Ptger4 C T 15: 5,272,655 (GRCm39) R13H probably benign Het
Scg2 T A 1: 79,413,941 (GRCm39) T261S probably benign Het
Sfswap T C 5: 129,616,855 (GRCm39) V433A probably benign Het
Sipa1l3 A G 7: 29,086,686 (GRCm39) Y635H probably damaging Het
Sp5 C A 2: 70,306,758 (GRCm39) P148T possibly damaging Het
Tlr5 A G 1: 182,801,449 (GRCm39) N251S possibly damaging Het
Tmem87a A T 2: 120,227,861 (GRCm39) N95K probably damaging Het
Unc45b C T 11: 82,813,745 (GRCm39) T384M probably damaging Het
Unc5c T C 3: 141,420,408 (GRCm39) L117P probably damaging Het
Vcan T C 13: 89,873,684 (GRCm39) N57D probably damaging Het
Zcchc8 G T 5: 123,838,981 (GRCm39) T519K probably damaging Het
Zfp729b G A 13: 67,743,349 (GRCm39) T72I probably benign Het
Other mutations in Bend5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Bend5 APN 4 111,305,838 (GRCm39) missense probably damaging 0.99
IGL03202:Bend5 APN 4 111,290,441 (GRCm39) missense possibly damaging 0.79
IGL03379:Bend5 APN 4 111,311,468 (GRCm39) missense probably benign 0.06
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 2015-04-16