Incidental Mutation 'R7085:Blzf1'
ID 549801
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 045179-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R7085 (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 C at 164129893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 153 (D153G)
Ref Sequence ENSEMBL: ENSMUSP00000027866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000193808]
AlphaFold Q8R2X8
Predicted Effect probably damaging
Transcript: ENSMUST00000027866
AA Change: D153G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: D153G

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: D146G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: D146G

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 possibly damaging
Transcript: ENSMUST00000120447
AA Change: D146G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: D146G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Fbxo44 T A 4: 148,243,200 (GRCm39) H20L probably damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Prex2 A T 1: 11,168,812 (GRCm39) R269S possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rsph10b A T 5: 143,886,102 (GRCm39) T267S possibly damaging Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Scn3b T C 9: 40,188,394 (GRCm39) V29A probably damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tns1 G A 1: 73,964,621 (GRCm39) P81S probably benign Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V 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
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'- TCACGTTTAGAGTATGCTTGCC -3'
(R):5'- TGCTATCACTCACGACATCC -3'

Sequencing Primer
(F):5'- AATTCTTTCTAGAGGCCCTATGG -3'
(R):5'- CCCACCAAGAACACAAAGGTTAAGTC -3'
Posted On 2019-05-15