Incidental Mutation 'R5525:Bzw1'
ID 431793
Institutional Source Beutler Lab
Gene Symbol Bzw1
Ensembl Gene ENSMUSG00000051223
Gene Name basic leucine zipper and W2 domains 1
Synonyms 1200015E15Rik
MMRRC Submission 043083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5525 (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 G at 58442065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 221 (E221G)
Ref Sequence ENSEMBL: ENSMUSP00000139761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050552] [ENSMUST00000186949] [ENSMUST00000188630] [ENSMUST00000188898]
AlphaFold Q9CQC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000050552
AA Change: E280G

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051935
Gene: ENSMUSG00000051223
AA Change: E280G

DomainStartEndE-ValueType
eIF5C 325 410 3.75e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000186949
AA Change: E312G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140319
Gene: ENSMUSG00000051223
AA Change: E312G

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 possibly damaging
Transcript: ENSMUST00000188898
AA Change: E221G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,731 (GRCm39) T1501A probably benign Het
Acin1 G A 14: 54,901,848 (GRCm39) A648V possibly damaging Het
Agap1 A G 1: 89,671,495 (GRCm39) T401A possibly damaging Het
Anapc4 T G 5: 53,014,151 (GRCm39) M440R probably damaging Het
Ankrd26 A G 6: 118,504,692 (GRCm39) M739T probably benign Het
Brip1 T C 11: 86,001,273 (GRCm39) E721G possibly damaging Het
Cenpm A C 15: 82,123,492 (GRCm39) probably null Het
Exosc1 T A 19: 41,912,457 (GRCm39) K143N probably damaging Het
Fgd5 T A 6: 92,043,228 (GRCm39) L1236Q probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Grm3 C T 5: 9,554,872 (GRCm39) V807I probably damaging Het
Kndc1 A G 7: 139,504,026 (GRCm39) N1110S probably benign Het
Magi1 A T 6: 93,769,354 (GRCm39) V17D possibly damaging Het
Mdn1 T G 4: 32,767,961 (GRCm39) M5298R possibly damaging Het
Nlrp9c T A 7: 26,083,926 (GRCm39) E551V probably damaging Het
Oacyl A C 18: 65,878,427 (GRCm39) I457L probably benign Het
Or12d13 C T 17: 37,647,517 (GRCm39) G202D probably damaging Het
Or5p69 A G 7: 107,967,206 (GRCm39) I170V probably benign Het
Or5t17 A T 2: 86,832,683 (GRCm39) E123D possibly damaging Het
Rab11fip3 T C 17: 26,210,269 (GRCm39) E996G probably damaging Het
Rabep1 T A 11: 70,813,972 (GRCm39) S554T probably damaging Het
Rln1 T C 19: 29,311,920 (GRCm39) E26G probably benign Het
Rpf1 A G 3: 146,223,559 (GRCm39) silent Het
Sdk1 T C 5: 142,171,020 (GRCm39) V1961A possibly damaging Het
Serpinb8 A T 1: 107,535,023 (GRCm39) I365F probably damaging Het
Shank2 A G 7: 143,623,846 (GRCm39) D277G probably damaging Het
Snapc4 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 2: 26,259,538 (GRCm39) probably benign Het
Thsd7a T C 6: 12,332,006 (GRCm39) T1269A possibly damaging Het
Ttll3 A G 6: 113,389,939 (GRCm39) N776D probably benign Het
Unc80 A G 1: 66,645,773 (GRCm39) E1483G possibly damaging Het
Ush2a A G 1: 188,485,803 (GRCm39) D2971G probably benign Het
Zfp322a A G 13: 23,541,685 (GRCm39) V19A probably benign Het
Zfp462 C A 4: 55,050,281 (GRCm39) P2164T 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
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
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'- CCAGAATGGAAAGCTTGGTTGG -3'
(R):5'- AGTATCCACTCAGTGCACAC -3'

Sequencing Primer
(F):5'- TCAGGCATGGACTTACTCTACAG -3'
(R):5'- CACCCCACCCCAACTGTG -3'
Posted On 2016-10-05