Incidental Mutation 'R6677:Blzf1'
ID 527301
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 044796-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R6677 (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 T at 164130181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 50 (V50D)
Ref Sequence ENSEMBL: ENSMUSP00000083196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000193808]
AlphaFold Q8R2X8
Predicted Effect probably benign
Transcript: ENSMUST00000027866
AA Change: V57D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: V57D

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 possibly damaging
Transcript: ENSMUST00000086032
AA Change: V50D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: V50D

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: V50D

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: V50D

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 noncoding transcript
Transcript: ENSMUST00000124007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148884
Predicted Effect probably benign
Transcript: ENSMUST00000193808
SMART Domains Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575

DomainStartEndE-ValueType
DM10 22 110 1.9e-37 SMART
NDK 110 248 1.75e-68 SMART
NDK 256 394 1.11e-43 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,261,381 (GRCm39) H713Q possibly damaging Het
Akap9 A G 5: 4,079,869 (GRCm39) T1874A probably benign Het
Atl1 A G 12: 70,000,218 (GRCm39) I289M probably damaging Het
Atp12a A G 14: 56,618,311 (GRCm39) D654G probably damaging Het
Bbox1 C A 2: 110,135,770 (GRCm39) D70Y probably damaging Het
Ccdc168 G T 1: 44,097,859 (GRCm39) R1080S probably benign Het
Cfap65 C A 1: 74,943,844 (GRCm39) D1556Y probably damaging Het
Chrm2 A T 6: 36,501,027 (GRCm39) N295Y probably damaging Het
Clca3b T A 3: 144,529,145 (GRCm39) E843V probably benign Het
Enpp3 T A 10: 24,653,855 (GRCm39) N701Y possibly damaging Het
Fbxo30 G T 10: 11,166,380 (GRCm39) L367F possibly damaging Het
Gm4841 A T 18: 60,403,652 (GRCm39) F147Y probably damaging Het
Itprid2 A G 2: 79,485,445 (GRCm39) T500A possibly damaging Het
Lama1 G A 17: 68,102,228 (GRCm39) V1951I probably benign Het
Mgat4b A G 11: 50,123,898 (GRCm39) probably null Het
Mpp3 A G 11: 101,899,444 (GRCm39) V359A probably benign Het
Nhsl1 T A 10: 18,401,610 (GRCm39) D911E probably damaging Het
Or13a23-ps1 T G 7: 140,118,465 (GRCm39) F12V probably damaging Het
Polr1b T C 2: 128,962,131 (GRCm39) probably benign Het
Qrfprl A T 6: 65,433,229 (GRCm39) I350F probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Saxo2 T C 7: 82,284,484 (GRCm39) R125G probably benign Het
Scn8a A G 15: 100,866,953 (GRCm39) D103G probably damaging Het
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Shroom1 G A 11: 53,354,343 (GRCm39) A88T possibly damaging Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Sult5a1 A G 8: 123,876,017 (GRCm39) F100L probably benign Het
Syne1 T C 10: 4,990,942 (GRCm39) Q579R possibly damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Zic5 C G 14: 122,702,566 (GRCm39) R55P unknown 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
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
R7801:Blzf1 UTSW 1 164,123,478 (GRCm39) missense probably benign 0.45
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'- ACCACTTCTGCCTGATTGTGG -3'
(R):5'- TCCAGTGACATCATTTTAACGC -3'

Sequencing Primer
(F):5'- CACTTCTGCCTGATTGTGGAGTTC -3'
(R):5'- CATCTTTGCTAGGCATCCT -3'
Posted On 2018-07-23