Incidental Mutation 'IGL00341:Bend3'
ID 6108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bend3
Ensembl Gene ENSMUSG00000038214
Gene Name BEN domain containing 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00341
Quality Score
Status
Chromosome 10
Chromosomal Location 43355130-43391413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43387539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 644 (D644G)
Ref Sequence ENSEMBL: ENSMUSP00000127351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040147] [ENSMUST00000167488] [ENSMUST00000214116] [ENSMUST00000216679]
AlphaFold Q6PAL0
Predicted Effect probably damaging
Transcript: ENSMUST00000040147
AA Change: D644G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: D644G

DomainStartEndE-ValueType
low complexity region 159 172 N/A INTRINSIC
BEN 261 340 1.76e-15 SMART
BEN 405 484 5.75e-20 SMART
BEN 568 647 4.71e-16 SMART
low complexity region 674 690 N/A INTRINSIC
low complexity region 704 715 N/A INTRINSIC
BEN 734 813 1.02e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167488
AA Change: D644G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: D644G

DomainStartEndE-ValueType
low complexity region 159 172 N/A INTRINSIC
BEN 261 340 1.76e-15 SMART
BEN 405 484 5.75e-20 SMART
BEN 568 647 4.71e-16 SMART
low complexity region 674 690 N/A INTRINSIC
low complexity region 704 715 N/A INTRINSIC
BEN 734 813 1.02e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214116
Predicted Effect probably benign
Transcript: ENSMUST00000216679
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,257,203 (GRCm39) Y519* probably null Het
Bahcc1 A G 11: 120,163,130 (GRCm39) Y476C probably damaging Het
Bclaf1 A T 10: 20,201,745 (GRCm39) E295D probably damaging Het
Ccdc122 G A 14: 77,329,179 (GRCm39) M77I probably benign Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Dnah11 T C 12: 118,162,480 (GRCm39) R30G probably benign Het
Hoxc4 A G 15: 102,944,264 (GRCm39) D214G probably damaging Het
Itsn2 A T 12: 4,708,027 (GRCm39) T778S possibly damaging Het
Kcnn2 A G 18: 45,810,138 (GRCm39) probably benign Het
Krtap5-3 G T 7: 141,755,612 (GRCm39) probably benign Het
Lgr5 G T 10: 115,290,369 (GRCm39) Q516K possibly damaging Het
Lrpprc T C 17: 85,057,953 (GRCm39) K759R possibly damaging Het
Mtfr2 A G 10: 20,233,394 (GRCm39) D321G probably damaging Het
Nip7 A G 8: 107,783,802 (GRCm39) Y45C possibly damaging Het
Or4c111 T C 2: 88,844,268 (GRCm39) I47V probably benign Het
Pak1ip1 A T 13: 41,161,494 (GRCm39) T84S possibly damaging Het
Ptpn20 C A 14: 33,344,576 (GRCm39) R167S probably benign Het
Rab4b C T 7: 26,872,151 (GRCm39) G190S probably damaging Het
Ropn1l T A 15: 31,443,495 (GRCm39) D179V probably damaging Het
Shc2 C T 10: 79,456,903 (GRCm39) R571Q probably damaging Het
Smad1 A G 8: 80,083,098 (GRCm39) V134A probably damaging Het
Smad6 A G 9: 63,861,263 (GRCm39) V344A probably damaging Het
Tet2 A G 3: 133,193,846 (GRCm39) L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 (GRCm39) V248E probably damaging Het
Ttc7 C T 17: 87,670,992 (GRCm39) T709I possibly damaging Het
Usp31 A G 7: 121,305,893 (GRCm39) L195P probably damaging Het
Vmn2r112 G A 17: 22,837,917 (GRCm39) V793I probably benign Het
Xpo5 T G 17: 46,535,973 (GRCm39) L535R probably damaging Het
Ythdc2 A T 18: 44,983,464 (GRCm39) M544L probably benign Het
Other mutations in Bend3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Bend3 APN 10 43,386,945 (GRCm39) missense possibly damaging 0.95
IGL00980:Bend3 APN 10 43,387,562 (GRCm39) missense probably damaging 1.00
IGL02457:Bend3 APN 10 43,385,946 (GRCm39) missense probably damaging 0.99
PIT4515001:Bend3 UTSW 10 43,386,630 (GRCm39) missense probably damaging 0.98
R0148:Bend3 UTSW 10 43,387,946 (GRCm39) missense probably damaging 1.00
R1484:Bend3 UTSW 10 43,386,197 (GRCm39) missense probably benign
R2046:Bend3 UTSW 10 43,387,842 (GRCm39) missense probably damaging 1.00
R2098:Bend3 UTSW 10 43,386,500 (GRCm39) missense probably damaging 1.00
R3419:Bend3 UTSW 10 43,385,978 (GRCm39) missense probably damaging 1.00
R3854:Bend3 UTSW 10 43,386,713 (GRCm39) unclassified probably benign
R4449:Bend3 UTSW 10 43,388,079 (GRCm39) missense possibly damaging 0.90
R4765:Bend3 UTSW 10 43,386,746 (GRCm39) missense probably damaging 1.00
R5070:Bend3 UTSW 10 43,369,681 (GRCm39) missense probably damaging 0.99
R5299:Bend3 UTSW 10 43,369,686 (GRCm39) critical splice donor site probably null
R5456:Bend3 UTSW 10 43,386,542 (GRCm39) missense probably damaging 1.00
R5530:Bend3 UTSW 10 43,387,722 (GRCm39) missense probably damaging 1.00
R5976:Bend3 UTSW 10 43,386,540 (GRCm39) missense probably benign 0.00
R6173:Bend3 UTSW 10 43,385,864 (GRCm39) missense probably benign 0.00
R7227:Bend3 UTSW 10 43,387,401 (GRCm39) missense probably damaging 1.00
R7256:Bend3 UTSW 10 43,369,667 (GRCm39) missense probably benign 0.12
R8273:Bend3 UTSW 10 43,386,899 (GRCm39) missense probably damaging 1.00
R9328:Bend3 UTSW 10 43,387,419 (GRCm39) missense possibly damaging 0.89
R9739:Bend3 UTSW 10 43,385,847 (GRCm39) missense possibly damaging 0.95
RF010:Bend3 UTSW 10 43,386,180 (GRCm39) missense possibly damaging 0.82
Posted On 2012-04-20