Incidental Mutation 'R5047:Blzf1'
ID453349
Institutional Source Beutler Lab
Gene Symbol Blzf1
Ensembl Gene ENSMUSG00000026577
Gene Namebasic leucine zipper nuclear factor 1
SynonymsJem-1, Golgin-45, 1700030G05Rik, Blzf1l
MMRRC Submission 042637-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #R5047 (G1)
Quality Score52
Status Validated
Chromosome1
Chromosomal Location164289800-164307489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164306468 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 4 (M4T)
Ref Sequence ENSEMBL: ENSMUSP00000113479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
Predicted Effect probably benign
Transcript: ENSMUST00000027866
AA Change: M4T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: M4T

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: M4T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: M4T

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: M4T

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: M4T

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: ENSMUST00000191947
SMART Domains Protein: ENSMUSP00000141431
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193237
Predicted Effect probably benign
Transcript: ENSMUST00000193683
SMART Domains Protein: ENSMUSP00000141963
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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195474
Meta Mutation Damage Score 0.7952 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.5%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik G T 14: 49,770,438 A526D probably damaging Het
4930503E14Rik A T 14: 44,169,241 M117K possibly damaging Het
Adamts13 G A 2: 26,996,910 A1020T probably damaging Het
Atg3 C A 16: 45,178,232 D132E probably benign Het
Cdon G A 9: 35,478,639 R863Q probably damaging Het
Cyp2d40 C T 15: 82,760,259 R255H unknown Het
Evi5 T C 5: 107,821,874 K57R probably damaging Het
Fam186b T C 15: 99,280,686 E253G probably damaging Het
Fcgr1 A T 3: 96,285,884 F266I probably benign Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Gm10142 G T 10: 77,716,162 C119F probably damaging Het
Gpr63 A G 4: 25,008,202 S309G probably benign Het
Herc3 C T 6: 58,855,760 Q137* probably null Het
Jmy T A 13: 93,441,572 H696L possibly damaging Het
Kif13a T C 13: 46,788,085 H972R probably benign Het
Lama1 C T 17: 67,743,281 Q296* probably null Het
Lmf1 C T 17: 25,631,838 probably benign Het
Lpp T C 16: 24,971,846 C352R probably damaging Het
Ltbp1 T C 17: 75,292,886 probably benign Het
Maml3 G T 3: 51,690,841 D807E possibly damaging Het
Mdc1 T A 17: 35,847,844 V372D probably benign Het
Mst1 C A 9: 108,084,309 H579Q probably benign Het
Olfr1238 A G 2: 89,406,713 V122A probably damaging Het
Olfr26 G A 9: 38,855,289 V76I probably benign Het
Olfr398 T C 11: 73,984,378 T77A probably damaging Het
Olfr739 T C 14: 50,425,239 F240S probably damaging Het
Pcdhb22 G T 18: 37,519,126 G216C probably damaging Het
Phlpp2 A T 8: 109,913,619 H472L probably benign Het
Plscr3 A G 11: 69,850,091 probably null Het
Rab7 A T 6: 88,005,223 probably null Het
Rad50 A G 11: 53,674,696 probably null Het
Scgb1b20 A G 7: 33,373,312 probably null Het
Scn9a A C 2: 66,562,480 L256R probably damaging Het
Spag1 G T 15: 36,195,442 Q260H probably damaging Het
Tatdn3 T A 1: 191,046,278 I239F probably damaging Het
Tcof1 A G 18: 60,831,914 S578P possibly damaging Het
Top3b A G 16: 16,891,418 T657A probably benign Het
Tstd3 A G 4: 21,759,621 probably null Het
Ttc4 A T 4: 106,668,238 L233H probably damaging Het
Vmn2r-ps130 T A 17: 23,063,820 M158K probably benign Het
Yeats2 A T 16: 20,208,465 Q822L probably damaging Het
Zfp976 A T 7: 42,613,419 C331* probably null Het
Other mutations in Blzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Blzf1 APN 1 164303930 unclassified probably benign
IGL01445:Blzf1 APN 1 164302620 missense possibly damaging 0.72
IGL02448:Blzf1 APN 1 164295781 missense possibly damaging 0.63
FR4737:Blzf1 UTSW 1 164303917 frame shift probably null
R0855:Blzf1 UTSW 1 164292381 missense possibly damaging 0.53
R1070:Blzf1 UTSW 1 164303930 unclassified probably benign
R1225:Blzf1 UTSW 1 164299596 missense probably damaging 1.00
R4660:Blzf1 UTSW 1 164306493 intron probably benign
R5552:Blzf1 UTSW 1 164302489 missense probably damaging 1.00
R5641:Blzf1 UTSW 1 164306469 missense probably benign 0.01
R6677:Blzf1 UTSW 1 164302612 missense possibly damaging 0.86
R7085:Blzf1 UTSW 1 164302324 missense probably damaging 1.00
R7233:Blzf1 UTSW 1 164295943 splice site probably null
R7293:Blzf1 UTSW 1 164295883 missense possibly damaging 0.91
R7801:Blzf1 UTSW 1 164295909 missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- GAACAGTTGTATTACCTGCCTTACTAG -3'
(R):5'- CATTACAGCCCGTCAAAAGG -3'

Sequencing Primer
(F):5'- CTCTCTGAGTTCAAGGCCAATGAG -3'
(R):5'- TTACAGCCCGTCAAAAGGAAATAATG -3'
Posted On2017-02-01