Incidental Mutation 'R8214:Bzw1'
ID 636296
Institutional Source Beutler Lab
Gene Symbol Bzw1
Ensembl Gene ENSMUSG00000051223
Gene Name basic leucine zipper and W2 domains 1
Synonyms 1200015E15Rik
MMRRC Submission 067656-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8214 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 58432057-58446512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58444196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 411 (S411P)
Ref Sequence ENSEMBL: ENSMUSP00000051935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050552] [ENSMUST00000186949] [ENSMUST00000188630] [ENSMUST00000188898]
AlphaFold Q9CQC6
Predicted Effect probably damaging
Transcript: ENSMUST00000050552
AA Change: S411P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: S411P

DomainStartEndE-ValueType
eIF5C 325 410 3.75e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186949
AA Change: S443P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: S443P

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF5C 357 442 1.8e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188630
Predicted Effect probably benign
Transcript: ENSMUST00000188898
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,177,447 (GRCm39) R52Q Het
Abcc3 C T 11: 94,254,344 (GRCm39) R718H probably damaging Het
Abcc4 T C 14: 118,738,253 (GRCm39) M1166V probably benign Het
Abhd16b C T 2: 181,135,983 (GRCm39) T295I probably damaging Het
Amph A G 13: 19,288,468 (GRCm39) N319S possibly damaging Het
Ankrd27 A G 7: 35,313,944 (GRCm39) D425G probably damaging Het
Atg4b T C 1: 93,712,609 (GRCm39) S316P probably damaging Het
Brd4 A G 17: 32,431,921 (GRCm39) S649P probably benign Het
Carmil1 T C 13: 24,228,215 (GRCm39) E987G probably damaging Het
Dnah6 T C 6: 73,021,711 (GRCm39) D3537G probably damaging Het
Dnpep A T 1: 75,292,642 (GRCm39) W126R probably damaging Het
Efcab2 T C 1: 178,265,015 (GRCm39) V27A probably benign Het
Kctd21 T C 7: 96,996,548 (GRCm39) L7P probably damaging Het
Kidins220 C T 12: 25,044,854 (GRCm39) T216I probably damaging Het
Lpl T A 8: 69,345,257 (GRCm39) M87K probably damaging Het
Ltn1 A G 16: 87,177,691 (GRCm39) V1646A probably benign Het
Madcam1 A G 10: 79,502,592 (GRCm39) T359A probably benign Het
Muc5ac A G 7: 141,356,685 (GRCm39) K1092E possibly damaging Het
Nrg2 T C 18: 36,329,729 (GRCm39) E162G probably benign Het
Or10ak11 A T 4: 118,687,288 (GRCm39) F117L probably benign Het
Or52e2 A C 7: 102,804,613 (GRCm39) S114A probably damaging Het
Or5p54 T A 7: 107,554,174 (GRCm39) S109T probably benign Het
Pcdhb5 G T 18: 37,454,636 (GRCm39) V339L probably benign Het
Plec A G 15: 76,076,484 (GRCm39) W145R unknown Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Skint5 T C 4: 113,662,139 (GRCm39) probably null Het
Slc12a2 A G 18: 58,070,791 (GRCm39) I1048V probably benign Het
Sult2a4 A G 7: 13,723,401 (GRCm39) I39T probably benign Het
Tenm4 T C 7: 96,544,614 (GRCm39) V2247A probably damaging Het
Tg C T 15: 66,645,247 (GRCm39) R2385C probably damaging Het
Tomm70a G T 16: 56,942,330 (GRCm39) A36S unknown Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tut4 A G 4: 108,369,347 (GRCm39) I636V probably benign Het
Unc45b A G 11: 82,824,714 (GRCm39) I629M possibly damaging Het
Vmn1r16 T C 6: 57,300,424 (GRCm39) E66G noncoding transcript Het
Vmn1r189 C T 13: 22,286,301 (GRCm39) V179I probably benign Het
Vmn2r105 T G 17: 20,448,775 (GRCm39) E134A probably benign Het
Wdr70 G A 15: 7,916,851 (GRCm39) A522V probably benign Het
Zfp184 T A 13: 22,142,995 (GRCm39) C234S probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Bzw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Bzw1 APN 1 58,442,101 (GRCm39) missense possibly damaging 0.56
IGL00583:Bzw1 APN 1 58,440,494 (GRCm39) splice site probably benign
IGL00816:Bzw1 APN 1 58,438,213 (GRCm39) missense probably damaging 1.00
IGL01625:Bzw1 APN 1 58,440,599 (GRCm39) missense probably benign 0.42
R1138:Bzw1 UTSW 1 58,440,545 (GRCm39) missense probably damaging 1.00
R1229:Bzw1 UTSW 1 58,433,378 (GRCm39) missense probably benign 0.45
R1272:Bzw1 UTSW 1 58,436,979 (GRCm39) missense probably damaging 1.00
R1837:Bzw1 UTSW 1 58,439,277 (GRCm39) missense probably damaging 1.00
R4491:Bzw1 UTSW 1 58,443,418 (GRCm39) missense probably damaging 1.00
R5525:Bzw1 UTSW 1 58,442,065 (GRCm39) missense possibly damaging 0.77
R5641:Bzw1 UTSW 1 58,436,883 (GRCm39) missense probably damaging 0.98
R7794:Bzw1 UTSW 1 58,439,959 (GRCm39) missense probably benign 0.00
R9077:Bzw1 UTSW 1 58,438,190 (GRCm39) missense probably benign 0.00
X0050:Bzw1 UTSW 1 58,440,621 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGAGGTTAGCTTACTGGTC -3'
(R):5'- CTCACACGTGGTTTCAGAAAC -3'

Sequencing Primer
(F):5'- CTTGCTGGCTCCATCATGGG -3'
(R):5'- GTTTCAGAAACCAAAGCCAACATTTC -3'
Posted On 2020-07-13