Incidental Mutation 'R8669:Blzf1'
ID 661028
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 068524-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R8669 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 164117368-164135056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 164130113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 80 (N80Y)
Ref Sequence ENSEMBL: ENSMUSP00000027866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000193808]
AlphaFold Q8R2X8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027866
AA Change: N80Y

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: N80Y

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: N73Y

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: N73Y

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: N73Y

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: N73Y

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: 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,949,234 (GRCm39) S305T probably benign Het
Ankrd42 A G 7: 92,268,881 (GRCm39) V154A possibly damaging Het
Apc2 C T 10: 80,149,491 (GRCm39) T1515I probably damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc125 T C 13: 100,832,683 (GRCm39) L420P probably damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cdc20b C T 13: 113,208,460 (GRCm39) P219S possibly damaging Het
Cep89 A G 7: 35,128,602 (GRCm39) D585G probably benign Het
Crnn A T 3: 93,056,296 (GRCm39) R361* probably null Het
Defb5 A G 8: 19,300,761 (GRCm39) I38V probably benign Het
Defb8 A G 8: 19,495,973 (GRCm39) V29A probably benign Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dnah12 A T 14: 26,552,582 (GRCm39) probably benign Het
Dsg2 A G 18: 20,723,132 (GRCm39) N386S probably damaging Het
Dyrk1a G T 16: 94,464,650 (GRCm39) R77L probably damaging Het
Fbxw19 G T 9: 109,313,482 (GRCm39) L239I probably benign Het
Gal3st2b A T 1: 93,868,764 (GRCm39) I332L possibly damaging Het
Gcnt1 T G 19: 17,307,143 (GRCm39) K194T probably benign Het
Gm7298 T C 6: 121,742,002 (GRCm39) W475R probably benign Het
Gpatch1 C A 7: 34,991,204 (GRCm39) W613C probably damaging Het
Gulp1 T A 1: 44,805,270 (GRCm39) S120T probably benign Het
Ift122 C A 6: 115,900,252 (GRCm39) Q946K probably damaging Het
Itpr1 T A 6: 108,370,928 (GRCm39) L1065H probably damaging Het
Kcnq5 T C 1: 21,476,050 (GRCm39) D579G probably damaging Het
Klhl40 T A 9: 121,607,088 (GRCm39) S83T probably benign Het
Krt19 T C 11: 100,031,993 (GRCm39) K320E probably damaging Het
Krt87 C A 15: 101,385,777 (GRCm39) V273L probably benign Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrp1b A G 2: 41,172,047 (GRCm39) probably null Het
Lrrk1 G A 7: 65,912,344 (GRCm39) L1739F probably benign Het
Mthfr A G 4: 148,135,934 (GRCm39) N336D probably benign Het
Myo6 T G 9: 80,173,531 (GRCm39) L557R unknown Het
Naip2 T C 13: 100,325,477 (GRCm39) S144G probably benign Het
Nfatc1 T C 18: 80,725,406 (GRCm39) K453E probably damaging Het
Or52ab7 A T 7: 102,978,281 (GRCm39) D196V probably benign Het
Osm A T 11: 4,189,665 (GRCm39) I150L probably benign Het
Phtf1 T A 3: 103,910,792 (GRCm39) N639K probably benign Het
Prpf40b T A 15: 99,201,228 (GRCm39) M1K probably null Het
Rhbdl3 G A 11: 80,244,339 (GRCm39) V349M probably damaging Het
Senp7 T C 16: 55,986,315 (GRCm39) S582P probably damaging Het
Slc16a14 A G 1: 84,900,605 (GRCm39) S127P probably benign Het
Slc22a21 C T 11: 53,870,643 (GRCm39) W14* probably null Het
Slc6a18 T A 13: 73,812,430 (GRCm39) E553D probably benign Het
Speer4a1 T G 5: 26,243,236 (GRCm39) N83T probably damaging Het
Svep1 T A 4: 58,070,119 (GRCm39) S2556C possibly damaging Het
Tc2n T C 12: 101,660,851 (GRCm39) N127S probably damaging Het
Tcstv7b C A 13: 120,702,338 (GRCm39) P45T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Thra T C 11: 98,654,476 (GRCm39) V282A possibly damaging Het
Tmem161b A T 13: 84,420,288 (GRCm39) probably null Het
Tmem218 C T 9: 37,133,815 (GRCm39) A85V probably benign Het
Txnip T C 3: 96,466,252 (GRCm39) Y100H probably damaging Het
Unc5c A G 3: 141,509,704 (GRCm39) D728G possibly damaging Het
Zfp462 T A 4: 55,051,313 (GRCm39) I2262K probably damaging Het
Zfp804a A T 2: 82,088,106 (GRCm39) D645V probably damaging 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
R7801:Blzf1 UTSW 1 164,123,478 (GRCm39) missense probably benign 0.45
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'- CCTGAAGTAGCCTCCTTTCAG -3'
(R):5'- GCTAGGCATCCTTACTTCGAC -3'

Sequencing Primer
(F):5'- GAAGTAGCCTCCTTTCAGAATTCTTG -3'
(R):5'- TTACTTCGACCCCAATCCGAGG -3'
Posted On 2021-03-08