Incidental Mutation 'R5976:Bend3'
ID 471779
Institutional Source Beutler Lab
Gene Symbol Bend3
Ensembl Gene ENSMUSG00000038214
Gene Name BEN domain containing 3
Synonyms
MMRRC Submission 044158-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5976 (G1)
Quality Score 212
Status Not validated
Chromosome 10
Chromosomal Location 43355130-43391413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43386540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 311 (Y311C)
Ref Sequence ENSEMBL: ENSMUSP00000127351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040147] [ENSMUST00000167488] [ENSMUST00000214116] [ENSMUST00000216679]
AlphaFold Q6PAL0
Predicted Effect probably benign
Transcript: ENSMUST00000040147
AA Change: Y311C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: Y311C

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: ENSMUST00000167488
AA Change: Y311C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: Y311C

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Ankrd26 A T 6: 118,494,855 (GRCm39) probably null Het
Arih2 A T 9: 108,485,172 (GRCm39) *54R probably null Het
AW146154 T G 7: 41,129,721 (GRCm39) K465T probably damaging Het
Bltp2 G A 11: 78,174,955 (GRCm39) A1697T probably benign Het
Ccdc110 A T 8: 46,396,536 (GRCm39) Y809F possibly damaging Het
Ccnh C T 13: 85,338,982 (GRCm39) P76L probably damaging Het
Chaf1a T A 17: 56,371,115 (GRCm39) C667S probably damaging Het
Clca3a1 A T 3: 144,452,636 (GRCm39) Y616N probably damaging Het
Cldn4 A G 5: 134,975,410 (GRCm39) C64R probably damaging Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Dclk2 C A 3: 86,694,532 (GRCm39) R752L possibly damaging Het
Dzank1 C A 2: 144,343,409 (GRCm39) G318W probably damaging Het
Edem1 T A 6: 108,819,923 (GRCm39) I236K probably damaging Het
Eif4e1b T C 13: 54,932,635 (GRCm39) F75L probably damaging Het
Elmo3 A G 8: 106,034,279 (GRCm39) Y266C probably damaging Het
Enpep A G 3: 129,092,773 (GRCm39) S509P probably damaging Het
Exoc8 A G 8: 125,623,392 (GRCm39) M325T probably benign Het
Fah A G 7: 84,243,949 (GRCm39) M270T probably benign Het
Gabbr1 T C 17: 37,378,754 (GRCm39) L532P probably damaging Het
Gm10770 T A 2: 150,021,320 (GRCm39) K66* probably null Het
Gprc5c A T 11: 114,755,313 (GRCm39) Q330L possibly damaging Het
Grin3a T A 4: 49,792,602 (GRCm39) H377L probably damaging Het
Hipk3 T C 2: 104,301,529 (GRCm39) E221G probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Ighv1-7 T A 12: 114,502,379 (GRCm39) E29D probably benign Het
Ing3 T A 6: 21,971,173 (GRCm39) S326T probably benign Het
Ipo7 T C 7: 109,648,014 (GRCm39) L632P probably damaging Het
Kdm6b A G 11: 69,294,614 (GRCm39) probably null Het
Kif21a T G 15: 90,820,015 (GRCm39) D1583A probably damaging Het
Lama2 C T 10: 27,066,672 (GRCm39) V1070I probably benign Het
Lrp1 A T 10: 127,419,770 (GRCm39) S946R probably damaging Het
Lrrc37a A G 11: 103,389,897 (GRCm39) S1843P possibly damaging Het
Ltbp1 T C 17: 75,597,078 (GRCm39) Y517H probably damaging Het
Map2k4 T A 11: 65,600,778 (GRCm39) N51I probably benign Het
Mfsd2b G T 12: 4,916,522 (GRCm39) A216D probably damaging Het
Nbea T C 3: 55,761,268 (GRCm39) T2025A probably benign Het
Neb A G 2: 52,106,928 (GRCm39) V4162A possibly damaging Het
Nr3c1 A T 18: 39,554,602 (GRCm39) F599I probably damaging Het
Nsun2 T G 13: 69,771,271 (GRCm39) probably null Het
Or10ab4 T A 7: 107,655,005 (GRCm39) M272K possibly damaging Het
Or8b37 G T 9: 37,958,997 (GRCm39) V160F possibly damaging Het
Otoa T A 7: 120,726,936 (GRCm39) W524R probably benign Het
Paip1 T A 13: 119,593,533 (GRCm39) D182E probably damaging Het
Pde1a G A 2: 79,698,586 (GRCm39) Q415* probably null Het
Pfkfb2 T A 1: 130,635,816 (GRCm39) K72* probably null Het
Pigg A G 5: 108,480,057 (GRCm39) E444G probably null Het
Plec T C 15: 76,073,237 (GRCm39) Y669C probably damaging Het
Ptp4a3 T C 15: 73,627,885 (GRCm39) V94A possibly damaging Het
Ptprg A G 14: 12,211,625 (GRCm38) E969G probably damaging Het
R3hcc1l T A 19: 42,551,789 (GRCm39) V262E probably benign Het
Ranbp3l T G 15: 9,030,916 (GRCm39) F65C possibly damaging Het
Rbm19 T A 5: 120,278,372 (GRCm39) S718R probably benign Het
Recql4 C A 15: 76,593,624 (GRCm39) R162L probably benign Het
Rest T C 5: 77,416,119 (GRCm39) L111P probably benign Het
Rgma T C 7: 73,059,216 (GRCm39) S13P probably damaging Het
Rogdi T A 16: 4,831,175 (GRCm39) I31F probably benign Het
Serpinb9e T A 13: 33,439,112 (GRCm39) D179E probably benign Het
Slc1a5 T C 7: 16,529,807 (GRCm39) C409R probably damaging Het
Slc25a38 A G 9: 119,945,613 (GRCm39) T38A probably damaging Het
Spag17 C T 3: 100,003,107 (GRCm39) Q1897* probably null Het
St7 C A 6: 17,694,221 (GRCm39) A4E possibly damaging Het
Tbcel T A 9: 42,350,499 (GRCm39) I263F possibly damaging Het
Tmtc3 A G 10: 100,312,534 (GRCm39) V103A probably benign Het
Tnc G A 4: 63,936,403 (GRCm39) P178S probably benign Het
Vwf A G 6: 125,580,426 (GRCm39) D558G Het
Zfp541 A G 7: 15,810,344 (GRCm39) K127R probably benign Het
Other mutations in Bend3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Bend3 APN 10 43,387,539 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTCAAGAAGCAGGTGAGCC -3'
(R):5'- TTGGTCCTTGTTGTCCAGAAAG -3'

Sequencing Primer
(F):5'- AAGAAGCAGGTGAGCCCTTCC -3'
(R):5'- AGAAAGTGGCCGGCATCC -3'
Posted On 2017-03-31