Incidental Mutation 'R7801:Blzf1'
ID 600509
Institutional Source Beutler Lab
Gene Symbol Blzf1
Ensembl Gene ENSMUSG00000026577
Gene Name basic leucine zipper nuclear factor 1
Synonyms 1700030G05Rik, Jem-1, Blzf1l, Golgin-45
MMRRC Submission 045856-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R7801 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164117368-164135056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164123478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 283 (V283A)
Ref Sequence ENSEMBL: ENSMUSP00000027866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447]
AlphaFold Q8R2X8
Predicted Effect probably benign
Transcript: ENSMUST00000027866
AA Change: V283A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: V283A

DomainStartEndE-ValueType
coiled coil region 130 175 N/A INTRINSIC
Pfam:DASH_Hsk3 191 236 2.9e-13 PFAM
coiled coil region 243 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086032
AA Change: V276A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: V276A

DomainStartEndE-ValueType
coiled coil region 123 168 N/A INTRINSIC
Pfam:DASH_Hsk3 184 230 2.6e-18 PFAM
coiled coil region 236 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120447
AA Change: V276A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: V276A

DomainStartEndE-ValueType
coiled coil region 123 168 N/A INTRINSIC
Pfam:DASH_Hsk3 184 230 2.6e-18 PFAM
coiled coil region 236 269 N/A INTRINSIC
Meta Mutation Damage Score 0.1302 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,558,207 (GRCm39) Y165C probably damaging Het
Agbl3 A T 6: 34,816,300 (GRCm39) T742S probably benign Het
Arhgef10l T C 4: 140,271,578 (GRCm39) T651A probably benign Het
Arsb T A 13: 93,998,835 (GRCm39) I381N probably damaging Het
Cadps C T 14: 12,489,476 (GRCm38) probably null Het
Casz1 A T 4: 149,022,706 (GRCm39) T591S probably damaging Het
Ccne2 T C 4: 11,194,079 (GRCm39) probably null Het
Chst9 T C 18: 15,585,334 (GRCm39) T410A probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Fam234a T C 17: 26,437,172 (GRCm39) D169G probably benign Het
Fat1 C T 8: 45,495,260 (GRCm39) P4116L probably damaging Het
Fbxo21 G T 5: 118,124,189 (GRCm39) A166S probably damaging Het
Gbf1 A G 19: 46,261,082 (GRCm39) I1216V probably benign Het
Gper1 G A 5: 139,412,443 (GRCm39) A263T probably benign Het
Hdlbp G T 1: 93,358,029 (GRCm39) probably null Het
Ighg3 A T 12: 113,323,436 (GRCm39) L280Q Het
Impa1 T C 3: 10,386,727 (GRCm39) T171A probably benign Het
Ints7 T A 1: 191,347,859 (GRCm39) Y744N possibly damaging Het
Irgc G T 7: 24,131,959 (GRCm39) A286D probably damaging Het
Kif18a T C 2: 109,118,190 (GRCm39) S2P probably damaging Het
Macf1 A T 4: 123,302,064 (GRCm39) W813R probably damaging Het
Mapkbp1 T G 2: 119,842,554 (GRCm39) H157Q probably damaging Het
Mfsd4b2 T A 10: 39,799,777 (GRCm39) M42L probably benign Het
Mon2 A G 10: 122,895,091 (GRCm39) probably null Het
Myrfl T A 10: 116,684,240 (GRCm39) H161L probably benign Het
Or2aj6 T C 16: 19,443,373 (GRCm39) H159R probably damaging Het
Or7g19 A C 9: 18,856,555 (GRCm39) S204R probably damaging Het
Phlpp2 T G 8: 110,652,474 (GRCm39) V606G possibly damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Ptpn9 A G 9: 56,968,297 (GRCm39) T546A probably benign Het
Qrfprl T A 6: 65,418,201 (GRCm39) V123D probably damaging Het
Rabep2 A G 7: 126,037,584 (GRCm39) M146V possibly damaging Het
Rptn G A 3: 93,305,531 (GRCm39) E955K possibly damaging Het
Samd3 G T 10: 26,139,770 (GRCm39) V301F possibly damaging Het
Sh2b1 C A 7: 126,070,464 (GRCm39) C380F probably benign Het
Shank1 A G 7: 44,001,022 (GRCm39) M914V unknown Het
Sox2 G A 3: 34,704,791 (GRCm39) R76H probably damaging Het
Stat5a T C 11: 100,771,143 (GRCm39) F574S probably damaging Het
Tbx5 A G 5: 119,975,064 (GRCm39) E29G probably benign Het
Trpm5 A C 7: 142,638,978 (GRCm39) D264E probably damaging Het
Zfp442 T C 2: 150,251,639 (GRCm39) S88G probably benign Het
Zfp62 T A 11: 49,108,155 (GRCm39) F749I possibly damaging Het
Zfp677 T A 17: 21,618,277 (GRCm39) S445T probably damaging Het
Zfp979 A C 4: 147,698,435 (GRCm39) N91K probably damaging Het
Zfyve9 A G 4: 108,542,192 (GRCm39) V209A possibly damaging Het
Zic4 G T 9: 91,266,297 (GRCm39) A314S probably benign Het
Other mutations in Blzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Blzf1 APN 1 164,131,499 (GRCm39) unclassified probably benign
IGL01445:Blzf1 APN 1 164,130,189 (GRCm39) missense possibly damaging 0.72
IGL02448:Blzf1 APN 1 164,123,350 (GRCm39) missense possibly damaging 0.63
FR4737:Blzf1 UTSW 1 164,131,486 (GRCm39) frame shift probably null
R0855:Blzf1 UTSW 1 164,119,950 (GRCm39) missense possibly damaging 0.53
R1070:Blzf1 UTSW 1 164,131,499 (GRCm39) unclassified probably benign
R1225:Blzf1 UTSW 1 164,127,165 (GRCm39) missense probably damaging 1.00
R4660:Blzf1 UTSW 1 164,134,062 (GRCm39) intron probably benign
R5047:Blzf1 UTSW 1 164,134,037 (GRCm39) missense possibly damaging 0.50
R5552:Blzf1 UTSW 1 164,130,058 (GRCm39) missense probably damaging 1.00
R5641:Blzf1 UTSW 1 164,134,038 (GRCm39) missense probably benign 0.01
R6677:Blzf1 UTSW 1 164,130,181 (GRCm39) missense possibly damaging 0.86
R7085:Blzf1 UTSW 1 164,129,893 (GRCm39) missense probably damaging 1.00
R7233:Blzf1 UTSW 1 164,123,512 (GRCm39) splice site probably null
R7293:Blzf1 UTSW 1 164,123,452 (GRCm39) missense possibly damaging 0.91
R8669:Blzf1 UTSW 1 164,130,113 (GRCm39) missense possibly damaging 0.67
R8712:Blzf1 UTSW 1 164,125,859 (GRCm39) missense possibly damaging 0.65
R9657:Blzf1 UTSW 1 164,134,023 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGGTACTGCAGAATTCGACTG -3'
(R):5'- GATTCATGGTTTTCAGGTAACAACC -3'

Sequencing Primer
(F):5'- CAGAATTCGACTGTTGTTGGAATC -3'
(R):5'- GTAGATTAGCAAGTATCTTCTGCCC -3'
Posted On 2019-11-26