Incidental Mutation 'IGL01135:Blzf1'
ID50330
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: 0.229) question?
Stock #IGL01135
Quality Score
Status
Chromosome1
Chromosomal Location164289800-164307489 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 164303930 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027866] [ENSMUST00000086032] [ENSMUST00000120447] [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]
Predicted Effect probably benign
Transcript: ENSMUST00000027866
SMART Domains Protein: ENSMUSP00000027866
Gene: ENSMUSG00000026577

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
SMART Domains Protein: ENSMUSP00000083196
Gene: ENSMUSG00000026577

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
SMART Domains Protein: ENSMUSP00000113479
Gene: ENSMUSG00000026577

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 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Blzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-06-21