Incidental Mutation 'R5641:Bzw1'
ID 440645
Institutional Source Beutler Lab
Gene Symbol Bzw1
Ensembl Gene ENSMUSG00000051223
Gene Name basic leucine zipper and W2 domains 1
Synonyms 1200015E15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5641 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58432057-58446512 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58436883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 70 (Q70L)
Ref Sequence ENSEMBL: ENSMUSP00000140319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050552] [ENSMUST00000186949] [ENSMUST00000188630] [ENSMUST00000188898]
AlphaFold Q9CQC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000050552
AA Change: Q38L

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: Q38L

DomainStartEndE-ValueType
eIF5C 325 410 3.75e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186949
AA Change: Q70L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: Q70L

DomainStartEndE-ValueType
low complexity region 3 25 N/A INTRINSIC
eIF5C 357 442 1.8e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188630
AA Change: Q38L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000188898
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,289,877 (GRCm39) M1398L probably benign Het
Acad12 A G 5: 121,742,084 (GRCm39) probably benign Het
Aldh1a7 T C 19: 20,693,293 (GRCm39) I209V probably benign Het
Alkal2 G A 12: 30,937,264 (GRCm39) probably null Het
Aqr A G 2: 113,979,515 (GRCm39) F307L probably damaging Het
Atp2a2 A G 5: 122,595,639 (GRCm39) L932P probably damaging Het
Atxn7 T C 14: 14,013,638 (GRCm38) M113T probably damaging Het
Blzf1 T A 1: 164,134,038 (GRCm39) M4L probably benign Het
Brca2 C A 5: 150,480,364 (GRCm39) S2711R probably damaging Het
Cd34 T A 1: 194,630,276 (GRCm39) I70N probably benign Het
Chac1 A G 2: 119,181,999 (GRCm39) Y39C probably damaging Het
Col6a2 G C 10: 76,449,112 (GRCm39) P275A probably damaging Het
Crb1 T A 1: 139,176,627 (GRCm39) N452I probably damaging Het
Ctrc T C 4: 141,566,094 (GRCm39) N188S probably damaging Het
Dnah7b G A 1: 46,307,924 (GRCm39) probably null Het
Etl4 GGGGAAGAACCGG GGG 2: 20,811,273 (GRCm39) probably null Het
Exoc6 T A 19: 37,576,081 (GRCm39) probably null Het
Gm5616 T A 9: 48,361,716 (GRCm39) noncoding transcript Het
Gm7535 T C 17: 18,131,788 (GRCm39) probably benign Het
Hnrnpr T C 4: 136,059,798 (GRCm39) S200P probably damaging Het
Ighg2b T C 12: 113,270,767 (GRCm39) N121S unknown Het
Il21 T A 3: 37,281,917 (GRCm39) K76* probably null Het
Jup T A 11: 100,267,632 (GRCm39) T564S possibly damaging Het
Kcns2 G C 15: 34,839,199 (GRCm39) R187S possibly damaging Het
Klhl18 G A 9: 110,275,896 (GRCm39) T84M probably damaging Het
Mtor T A 4: 148,630,882 (GRCm39) L2280M probably damaging Het
Ncoa6 A G 2: 155,263,756 (GRCm39) I226T probably benign Het
Nipbl A T 15: 8,396,196 (GRCm39) Y126N possibly damaging Het
Nlrp4a T A 7: 26,149,589 (GRCm39) C399S probably damaging Het
Nphp3 A G 9: 103,913,352 (GRCm39) K54E probably damaging Het
Nsun2 T A 13: 69,771,368 (GRCm39) V326E probably benign Het
Oosp3 T C 19: 11,674,537 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,746 (GRCm39) I38T probably benign Het
Pcdhga9 T C 18: 37,871,301 (GRCm39) S377P probably damaging Het
Pdlim3 A G 8: 46,368,300 (GRCm39) probably null Het
Pla2r1 A T 2: 60,345,328 (GRCm39) W343R probably damaging Het
Prox2 A G 12: 85,134,721 (GRCm39) V520A probably benign Het
Rfx3 T C 19: 27,771,008 (GRCm39) probably null Het
Rif1 A C 2: 52,011,170 (GRCm39) R2412S possibly damaging Het
Rreb1 T C 13: 38,131,397 (GRCm39) L1517P probably benign Het
Rxfp1 T C 3: 79,594,199 (GRCm39) N65S probably damaging Het
Sbf2 T C 7: 110,038,108 (GRCm39) E399G probably damaging Het
Slc36a4 A C 9: 15,640,098 (GRCm39) probably null Het
Slco1a1 A T 6: 141,885,695 (GRCm39) M110K probably damaging Het
Stat5a T A 11: 100,767,634 (GRCm39) C401S probably benign Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem150c T C 5: 100,231,523 (GRCm39) T151A probably damaging Het
Ube4a A T 9: 44,862,179 (GRCm39) M173K probably damaging Het
Vmn1r188 A T 13: 22,272,342 (GRCm39) S99C probably damaging Het
Vmn2r70 C T 7: 85,208,572 (GRCm39) C635Y probably damaging Het
Zfp644 T C 5: 106,767,461 (GRCm39) K24E probably 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
R7794:Bzw1 UTSW 1 58,439,959 (GRCm39) missense probably benign 0.00
R8214:Bzw1 UTSW 1 58,444,196 (GRCm39) missense probably damaging 0.97
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'- TCTTGACCAGGTAGGAGGAG -3'
(R):5'- TGTTGGCACTGTCAAAGCTC -3'

Sequencing Primer
(F):5'- TCCTGCAGGAGAGACACTG -3'
(R):5'- GGCACTGTCAAAGCTCATTTTCTG -3'
Posted On 2016-11-08