Incidental Mutation 'IGL02448:Blzf1'
ID293599
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blzf1
Ensembl Gene ENSMUSG00000026577
Gene Namebasic leucine zipper nuclear factor 1
SynonymsJem-1, Golgin-45, 1700030G05Rik, Blzf1l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02448
Quality Score
Status
Chromosome1
Chromosomal Location164289800-164307489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 164295781 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 326 (I326F)
Ref Sequence ENSEMBL: ENSMUSP00000027866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027866
AA Change: I326F

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577
AA Change: I326F

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: I319F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577
AA Change: I319F

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: I319F

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577
AA Change: I319F

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging 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
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
R5047:Blzf1 UTSW 1 164306468 missense possibly damaging 0.50
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
Posted On2015-04-16