Incidental Mutation 'R1225:Blzf1'
ID 152855
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 039294-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R1225 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 164117368-164135056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164127165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 209 (E209G)
Ref Sequence ENSEMBL: ENSMUSP00000113479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000193808]
AlphaFold Q8R2X8
Predicted Effect probably damaging
Transcript: ENSMUST00000027866
AA Change: E216G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: E216G

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: E209G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: E209G

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 damaging
Transcript: ENSMUST00000120447
AA Change: E209G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: E209G

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 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
Meta Mutation Damage Score 0.6960 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,953 (GRCm39) noncoding transcript Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ahnak T A 19: 8,980,247 (GRCm39) D510E probably damaging Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Arid1a A G 4: 133,414,676 (GRCm39) V1185A unknown Het
Atp2c2 C A 8: 120,461,984 (GRCm39) Q286K probably damaging Het
Bmp6 A G 13: 38,530,257 (GRCm39) T117A probably benign Het
Cmip T C 8: 118,172,110 (GRCm39) F394L probably damaging Het
Col6a3 T A 1: 90,739,238 (GRCm39) D330V probably damaging Het
Crebbp A T 16: 3,944,820 (GRCm39) S491R probably benign Het
Dedd G A 1: 171,167,863 (GRCm39) probably null Het
Dennd4a A G 9: 64,818,957 (GRCm39) H1704R probably benign Het
Dicer1 C T 12: 104,657,866 (GRCm39) V1903I probably damaging Het
Dnah9 A G 11: 65,761,886 (GRCm39) V3868A possibly damaging Het
Eif5b A G 1: 38,076,709 (GRCm39) I674V probably damaging Het
F13a1 T C 13: 37,209,825 (GRCm39) N47D probably benign Het
Fancd2 T C 6: 113,512,822 (GRCm39) S53P probably damaging Het
Fsip1 C A 2: 118,078,831 (GRCm39) L170F probably damaging Het
Git2 A T 5: 114,871,239 (GRCm39) probably benign Het
Gm9742 T C 13: 8,079,875 (GRCm39) noncoding transcript Het
Heatr4 C T 12: 84,024,820 (GRCm39) E334K probably benign Het
Hoga1 T G 19: 42,058,628 (GRCm39) V110G probably damaging Het
Ighv6-4 T A 12: 114,370,170 (GRCm39) D75V probably damaging Het
Inhca A T 9: 103,132,038 (GRCm39) probably benign Het
Med15 G T 16: 17,540,652 (GRCm39) S31R probably damaging Het
Nbeal2 T C 9: 110,461,954 (GRCm39) E1467G probably damaging Het
Or2ag1 A T 7: 106,313,731 (GRCm39) D52E probably benign Het
Or2t6 T A 14: 14,175,600 (GRCm38) I161F possibly damaging Het
Or5ac19 T C 16: 59,089,587 (GRCm39) T148A probably benign Het
Papss1 T C 3: 131,285,062 (GRCm39) probably benign Het
Pde4d A T 13: 110,086,755 (GRCm39) M610L probably benign Het
Prickle4 T G 17: 47,999,614 (GRCm39) probably null Het
Sema3g A G 14: 30,942,636 (GRCm39) Y79C probably damaging Het
Setbp1 T A 18: 78,901,423 (GRCm39) D748V probably damaging Het
Slc46a2 A T 4: 59,914,125 (GRCm39) V266E probably benign Het
Slc9a8 T C 2: 167,313,443 (GRCm39) I435T probably benign Het
Snx29 T C 16: 11,238,550 (GRCm39) probably benign Het
Son C T 16: 91,454,228 (GRCm39) R992C probably damaging Het
Stxbp5 T C 10: 9,688,135 (GRCm39) N389D possibly damaging Het
Vmn1r28 C T 6: 58,242,951 (GRCm39) Q265* probably null 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
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
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'- CGGCGGCTTTCTCCAGCAG -3'
(R):5'- AGCTTGGTTGTCTTCTTCCATCCTAGA -3'

Sequencing Primer
(F):5'- aggagggagagggggag -3'
(R):5'- TCTTCCATCCTAGATAAATCGTGAG -3'
Posted On 2014-01-29