Incidental Mutation 'R5315:Bex6'
ID 405812
Institutional Source Beutler Lab
Gene Symbol Bex6
Ensembl Gene ENSMUSG00000075269
Gene Name brain expressed family member 6
Synonyms B020003O03Rik
MMRRC Submission 042898-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5315 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31998618-32005762 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32005311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 40 (N40D)
Ref Sequence ENSEMBL: ENSMUSP00000156333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099990] [ENSMUST00000231512] [ENSMUST00000231941]
AlphaFold Q3TZW7
Predicted Effect probably benign
Transcript: ENSMUST00000099990
AA Change: N40D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097570
Gene: ENSMUSG00000075269
AA Change: N40D

DomainStartEndE-ValueType
Pfam:BEX 2 109 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231512
AA Change: N40D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000231941
AA Change: N40D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.1%
  • 20x: 97.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,885,747 (GRCm39) V51A probably benign Het
Ass1 A T 2: 31,382,341 (GRCm39) I171F probably benign Het
AU041133 T G 10: 81,987,506 (GRCm39) Y386* probably null Het
Cc2d2a A G 5: 43,877,775 (GRCm39) Y1044C probably damaging Het
Cflar C G 1: 58,792,961 (GRCm39) D442E probably benign Het
Dag1 A G 9: 108,086,316 (GRCm39) V275A probably damaging Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Epha4 C T 1: 77,365,109 (GRCm39) probably null Het
Eri2 T C 7: 119,385,241 (GRCm39) D420G probably benign Het
Gm42669 A T 5: 107,656,103 (GRCm39) I1301F probably damaging Het
Golga2 A G 2: 32,193,773 (GRCm39) E463G probably damaging Het
Grsf1 G A 5: 88,821,634 (GRCm39) probably benign Het
Igkv6-15 A C 6: 70,383,957 (GRCm39) V7G possibly damaging Het
Katnal2 A T 18: 77,099,705 (GRCm39) V143D probably benign Het
Mepce A C 5: 137,780,955 (GRCm39) I617S probably damaging Het
Mms19 C T 19: 41,943,201 (GRCm39) R320Q possibly damaging Het
Nt5c2 T C 19: 46,880,682 (GRCm39) Y353C probably damaging Het
Or5p76 A G 7: 108,123,097 (GRCm39) L20S probably damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pitpnm2 A T 5: 124,259,996 (GRCm39) D1111E probably benign Het
Plin5 C A 17: 56,421,066 (GRCm39) V200L probably benign Het
Rab3a T C 8: 71,208,569 (GRCm39) F23L probably damaging Het
Rrp8 T C 7: 105,383,207 (GRCm39) K353R probably benign Het
S100a7l2 G A 3: 90,997,637 (GRCm39) T26M possibly damaging Het
Senp7 A G 16: 56,000,889 (GRCm39) D887G probably benign Het
Sftpb G T 6: 72,283,876 (GRCm39) A158S probably benign Het
Sh2d2a A C 3: 87,754,976 (GRCm39) T23P probably damaging Het
Siglecf T C 7: 43,004,532 (GRCm39) L287P probably benign Het
Slc4a1 T A 11: 102,249,080 (GRCm39) I233F possibly damaging Het
Spef2 T C 15: 9,596,777 (GRCm39) Q1424R probably damaging Het
Tbc1d14 T C 5: 36,664,932 (GRCm39) D567G probably damaging Het
Tmem106b T G 6: 13,081,559 (GRCm39) N155K probably damaging Het
Vmn2r2 C A 3: 64,024,377 (GRCm39) V735F probably benign Het
Zfp850 T C 7: 27,689,743 (GRCm39) K155R probably benign Het
Other mutations in Bex6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2094:Bex6 UTSW 16 32,005,278 (GRCm39) missense possibly damaging 0.95
R6289:Bex6 UTSW 16 32,005,530 (GRCm39) missense probably benign 0.33
R6611:Bex6 UTSW 16 32,005,483 (GRCm39) missense probably benign
R7352:Bex6 UTSW 16 32,005,034 (GRCm39) start gained probably benign
R8057:Bex6 UTSW 16 32,005,224 (GRCm39) missense probably damaging 1.00
R8058:Bex6 UTSW 16 32,005,224 (GRCm39) missense probably damaging 1.00
R9726:Bex6 UTSW 16 32,005,243 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTCCTGGTGGCATTCAG -3'
(R):5'- GAGGAACCACTTGGAAAACCTC -3'

Sequencing Primer
(F):5'- TGGCATTCAGAGTGCCAG -3'
(R):5'- TTGGAAAACCTCATCCACTGCTC -3'
Posted On 2016-07-22