Incidental Mutation 'IGL01473:Spz1'
ID 88341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spz1
Ensembl Gene ENSMUSG00000046957
Gene Name spermatogenic leucine zipper 1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL01473
Quality Score
Chromosome 13
Chromosomal Location 92574636-92576172 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92575256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 237 (C237*)
Ref Sequence ENSEMBL: ENSMUSP00000054083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050658]
AlphaFold Q99MY0
Predicted Effect probably null
Transcript: ENSMUST00000050658
AA Change: C237*
SMART Domains Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: C237*

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
Atp13a5 T C 16: 29,316,724 Y350C probably damaging Het
Ccdc151 C A 9: 21,995,379 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Clcn1 C A 6: 42,291,703 A181D probably damaging Het
Cylc1 G T X: 111,122,680 K243N unknown Het
Dsp A G 13: 38,167,571 Y122C probably damaging Het
Exoc5 A G 14: 49,014,294 V665A possibly damaging Het
Fcho1 G A 8: 71,712,138 P500S probably benign Het
Flg2 A G 3: 93,203,020 E785G unknown Het
Fpr1 A G 17: 17,877,692 S12P possibly damaging Het
Hydin A T 8: 110,312,160 M177L probably benign Het
Hydin G T 8: 110,354,953 G327V probably damaging Het
Itga10 G A 3: 96,647,641 G97E probably damaging Het
Khdc1c T A 1: 21,368,906 Y39N possibly damaging Het
Lrp1b T G 2: 40,611,486 T202P probably damaging Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mdc1 C A 17: 35,848,020 L431I probably benign Het
Mmp17 A G 5: 129,606,408 D536G probably benign Het
Myh8 G A 11: 67,301,825 probably null Het
Pop4 A G 7: 38,264,396 V154A probably benign Het
Ppp1r13l C T 7: 19,375,268 R608C probably damaging Het
Prss36 T C 7: 127,944,701 H166R probably damaging Het
Rab11fip3 C T 17: 26,068,735 R148Q possibly damaging Het
Rbm39 T A 2: 156,172,979 R49* probably null Het
S100a11 T C 3: 93,526,106 C86R probably damaging Het
Skint7 T C 4: 111,982,205 I232T probably damaging Het
Smchd1 G A 17: 71,389,750 T1210I probably benign Het
Speg C T 1: 75,428,285 T2907I possibly damaging Het
Sun3 G T 11: 9,029,394 D42E probably benign Het
Tgds C T 14: 118,128,214 probably benign Het
Tnxb G A 17: 34,685,701 D1270N probably damaging Het
Vmn2r78 A C 7: 86,920,312 T138P possibly damaging Het
Wdfy1 T C 1: 79,707,465 I351V probably benign Het
Other mutations in Spz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Spz1 APN 13 92575521 missense probably damaging 0.98
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
R8945:Spz1 UTSW 13 92574991 missense possibly damaging 0.89
Posted On 2013-11-18