Incidental Mutation 'IGL03202:Bend5'
ID413034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bend5
Ensembl Gene ENSMUSG00000028545
Gene NameBEN domain containing 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL03202
Quality Score
Status
Chromosome4
Chromosomal Location111415006-111460298 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111433244 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 146 (N146D)
Ref Sequence ENSEMBL: ENSMUSP00000030274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030274] [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030274
AA Change: N146D

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: N146D

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 noncoding transcript
Transcript: ENSMUST00000130523
Predicted Effect unknown
Transcript: ENSMUST00000139876
AA Change: N16D
SMART Domains Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545
AA Change: N16D

DomainStartEndE-ValueType
coiled coil region 50 112 N/A INTRINSIC
Blast:BEN 115 150 8e-13 BLAST
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Pygl G T 12: 70,199,646 Q376K probably benign Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Bend5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Bend5 APN 4 111448641 missense probably damaging 0.99
IGL02083:Bend5 APN 4 111459767 missense probably benign 0.44
IGL03379:Bend5 APN 4 111454271 missense probably benign 0.06
PIT4378001:Bend5 UTSW 4 111431107 missense probably benign
R0639:Bend5 UTSW 4 111433298 missense probably benign 0.21
R1306:Bend5 UTSW 4 111459773 nonsense probably null
R1535:Bend5 UTSW 4 111459763 missense probably benign 0.06
R1768:Bend5 UTSW 4 111454241 nonsense probably null
R2116:Bend5 UTSW 4 111415239 missense probably benign 0.09
R2216:Bend5 UTSW 4 111448590 missense probably null 0.00
R2256:Bend5 UTSW 4 111431010 intron probably benign
R3927:Bend5 UTSW 4 111448605 missense possibly damaging 0.91
R5408:Bend5 UTSW 4 111454083 critical splice acceptor site probably null
R5841:Bend5 UTSW 4 111433470 missense probably damaging 1.00
Posted On2016-08-02