Incidental Mutation 'IGL01082:Spz1'
ID52542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spz1
Ensembl Gene ENSMUSG00000046957
Gene Namespermatogenic leucine zipper 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01082
Quality Score
Status
Chromosome13
Chromosomal Location92574636-92576172 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 92575521 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 149 (K149T)
Ref Sequence ENSEMBL: ENSMUSP00000054083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050658]
Predicted Effect probably damaging
Transcript: ENSMUST00000050658
AA Change: K149T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: K149T

DomainStartEndE-ValueType
coiled coil region 182 223 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,114 S723F probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Ccdc116 A G 16: 17,141,992 S278P probably damaging Het
Cep152 A T 2: 125,569,545 probably benign Het
Cftr T C 6: 18,226,103 V350A probably damaging Het
Dsc2 A T 18: 20,043,792 N399K probably damaging Het
Eif3d T C 15: 77,959,743 T468A probably damaging Het
Fam110b C T 4: 5,799,461 A293V possibly damaging Het
Flrt1 T C 19: 7,095,974 T403A probably benign Het
Hist1h3e A G 13: 23,562,374 probably benign Het
Ift140 T A 17: 25,048,455 V609E possibly damaging Het
Klb G A 5: 65,375,940 V531I possibly damaging Het
Krt73 T C 15: 101,798,937 probably null Het
Mcm2 A G 6: 88,887,877 V539A probably benign Het
Myb A G 10: 21,152,944 V85A probably damaging Het
Ndufs1 T C 1: 63,164,817 E102G probably damaging Het
Nr5a2 C A 1: 136,845,468 A499S probably benign Het
Olfr1201 T C 2: 88,795,293 F304L probably benign Het
Olfr1256 A T 2: 89,844,063 probably benign Het
Olfr126 T A 17: 37,850,623 S10R probably benign Het
Opa1 A T 16: 29,618,115 probably benign Het
Pcnx G A 12: 81,990,598 E1877K possibly damaging Het
Sel1l A G 12: 91,811,908 V711A probably benign Het
Slc22a16 A G 10: 40,573,864 T120A probably benign Het
Slc26a1 G T 5: 108,671,878 T485N possibly damaging Het
Sp100 T C 1: 85,670,020 V201A possibly damaging Het
Stxbp5l A G 16: 37,204,578 S553P possibly damaging Het
Szt2 A G 4: 118,397,624 S290P probably damaging Het
Tbc1d10c A G 19: 4,189,027 Y165H probably damaging Het
Tnxb C A 17: 34,714,610 Q2335K probably damaging Het
Trim33 T C 3: 103,326,859 I471T possibly damaging Het
Vsig10 A G 5: 117,334,905 I188V probably benign Het
Zfp109 A T 7: 24,234,359 L45Q probably damaging Het
Other mutations in Spz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Spz1 APN 13 92575256 nonsense probably null
IGL01903:Spz1 APN 13 92574899 missense probably damaging 0.99
IGL02312:Spz1 APN 13 92575885 missense probably benign 0.01
IGL02343:Spz1 APN 13 92575546 missense probably benign 0.00
IGL02969:Spz1 APN 13 92575343 missense possibly damaging 0.82
R1255:Spz1 UTSW 13 92575630 missense probably benign
R1756:Spz1 UTSW 13 92575125 missense probably damaging 0.96
R1992:Spz1 UTSW 13 92575658 missense possibly damaging 0.95
R3710:Spz1 UTSW 13 92575123 nonsense probably null
R4431:Spz1 UTSW 13 92575329 missense probably damaging 1.00
R5108:Spz1 UTSW 13 92575046 nonsense probably null
R5922:Spz1 UTSW 13 92575598 missense possibly damaging 0.81
R6724:Spz1 UTSW 13 92575484 missense possibly damaging 0.59
R7166:Spz1 UTSW 13 92575927 missense probably benign 0.00
R8145:Spz1 UTSW 13 92575101 missense probably benign 0.01
Posted On2013-06-21