Incidental Mutation 'R8063:Bend5'
ID 619838
Institutional Source Beutler Lab
Gene Symbol Bend5
Ensembl Gene ENSMUSG00000028545
Gene Name BEN domain containing 5
Synonyms 2310026E23Rik
MMRRC Submission 067499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8063 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 111272203-111317495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111317031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 398 (C398F)
Ref Sequence ENSEMBL: ENSMUSP00000030274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030274] [ENSMUST00000080744] [ENSMUST00000097920] [ENSMUST00000106591] [ENSMUST00000106592]
AlphaFold Q8C6D4
Predicted Effect probably damaging
Transcript: ENSMUST00000030274
AA Change: C398F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: C398F

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
SMART Domains Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545
AA Change: C147F

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
Meta Mutation Damage Score 0.1462 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,190 (GRCm39) I248N possibly damaging Het
Agk T A 6: 40,306,490 (GRCm39) C20S possibly damaging Het
Alpk2 G A 18: 65,483,417 (GRCm39) S197L probably benign Het
Armc10 T C 5: 21,853,768 (GRCm39) probably null Het
Asxl2 A G 12: 3,550,768 (GRCm39) T837A probably benign Het
Atp12a A G 14: 56,603,545 (GRCm39) E50G probably damaging Het
Bicra A G 7: 15,712,969 (GRCm39) V1026A probably benign Het
Canx A T 11: 50,199,173 (GRCm39) Y165* probably null Het
Casp14 A G 10: 78,549,865 (GRCm39) F210L probably damaging Het
Cep70 T A 9: 99,178,175 (GRCm39) D458E probably benign Het
Cisd3 T C 11: 97,576,710 (GRCm39) V12A probably benign Het
Cnot4 A T 6: 35,045,578 (GRCm39) M211K probably damaging Het
Cyp4f18 A G 8: 72,752,075 (GRCm39) L197P probably damaging Het
Dnah5 T A 15: 28,230,729 (GRCm39) I209N probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Edem2 A T 2: 155,544,376 (GRCm39) M458K probably benign Het
Eif2ak4 G A 2: 118,241,382 (GRCm39) E178K possibly damaging Het
Fars2 G A 13: 36,388,880 (GRCm39) W123* probably null Het
Ighv1-20 T C 12: 114,687,405 (GRCm39) Y113C probably damaging Het
Il18r1 T A 1: 40,526,198 (GRCm39) I248N probably benign Het
Impg2 T A 16: 56,081,819 (GRCm39) probably benign Het
Kcnh2 T C 5: 24,526,670 (GRCm39) E1042G probably benign Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Lasp1 T C 11: 97,724,957 (GRCm39) Y188H probably benign Het
Lrrc37 T C 11: 103,433,087 (GRCm39) T3361A unknown Het
Lrrc52 A G 1: 167,294,090 (GRCm39) I65T probably damaging Het
Megf9 A G 4: 70,406,495 (GRCm39) C224R probably damaging Het
Ms4a10 T C 19: 10,942,136 (GRCm39) T162A probably benign Het
Mstn T A 1: 53,105,607 (GRCm39) F316L probably benign Het
Ndufs8 T C 19: 3,961,019 (GRCm39) Y86C probably damaging Het
Or10d4b A T 9: 39,534,823 (GRCm39) I133F probably damaging Het
Pappa2 C T 1: 158,764,126 (GRCm39) D462N possibly damaging Het
Rad51d A G 11: 82,780,597 (GRCm39) S62P probably benign Het
Ralgapa2 A G 2: 146,285,775 (GRCm39) Y388H probably damaging Het
Rdm1 C A 11: 101,521,694 (GRCm39) Q150K probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Sctr T C 1: 119,991,005 (GRCm39) V446A probably benign Het
Sin3b G A 8: 73,452,169 (GRCm39) D71N probably damaging Het
Sirt5 A T 13: 43,524,323 (GRCm39) T32S probably benign Het
Slc17a1 T C 13: 24,059,524 (GRCm39) V85A probably benign Het
Snx1 C T 9: 66,004,676 (GRCm39) probably benign Het
Sorcs1 T A 19: 50,132,415 (GRCm39) D1181V unknown Het
Tcof1 A G 18: 60,971,834 (GRCm39) S158P probably damaging Het
Tet3 T C 6: 83,379,723 (GRCm39) D815G probably damaging Het
Tnfsf11 A T 14: 78,516,098 (GRCm39) I290N probably damaging Het
Uba6 A T 5: 86,300,544 (GRCm39) N225K probably benign Het
Usp30 A G 5: 114,238,524 (GRCm39) T11A probably benign Het
Vmn1r5 T G 6: 56,962,583 (GRCm39) M86R probably damaging Het
Vmn2r26 T A 6: 124,001,914 (GRCm39) H66Q probably benign Het
Vps13d T C 4: 144,841,327 (GRCm39) E2647G Het
Wdr5b T A 16: 35,862,158 (GRCm39) D92E possibly damaging Het
Zfp960 C A 17: 17,308,623 (GRCm39) R446S probably benign Het
Zscan20 C T 4: 128,480,028 (GRCm39) S821N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTCAGAAGGCATATCCTCTCTC -3'
(R):5'- CTGCCTTCTTCGAAGTAGGAAG -3'

Sequencing Primer
(F):5'- AGGCATATCCTCTCTCTTCTTAAAAG -3'
(R):5'- CTTCGAAGTAGGAAGTCCAAATTCAG -3'
Posted On 2020-01-23