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
Synonyms 1700027M20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL01473
Quality Score
Status
Chromosome 13
Chromosomal Location 92711144-92712680 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92711764 bp (GRCm39)
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*

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
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Exoc5 A G 14: 49,251,751 (GRCm39) V665A possibly damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Itga10 G A 3: 96,554,957 (GRCm39) G97E probably damaging Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Mmp17 A G 5: 129,683,472 (GRCm39) D536G probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Pop4 A G 7: 37,963,820 (GRCm39) V154A probably benign Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Prss36 T C 7: 127,543,873 (GRCm39) H166R probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Spz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Spz1 APN 13 92,712,029 (GRCm39) missense probably damaging 0.98
IGL01903:Spz1 APN 13 92,711,407 (GRCm39) missense probably damaging 0.99
IGL02312:Spz1 APN 13 92,712,393 (GRCm39) missense probably benign 0.01
IGL02343:Spz1 APN 13 92,712,054 (GRCm39) missense probably benign 0.00
IGL02969:Spz1 APN 13 92,711,851 (GRCm39) missense possibly damaging 0.82
R1255:Spz1 UTSW 13 92,712,138 (GRCm39) missense probably benign
R1756:Spz1 UTSW 13 92,711,633 (GRCm39) missense probably damaging 0.96
R1992:Spz1 UTSW 13 92,712,166 (GRCm39) missense possibly damaging 0.95
R3710:Spz1 UTSW 13 92,711,631 (GRCm39) nonsense probably null
R4431:Spz1 UTSW 13 92,711,837 (GRCm39) missense probably damaging 1.00
R5108:Spz1 UTSW 13 92,711,554 (GRCm39) nonsense probably null
R5922:Spz1 UTSW 13 92,712,106 (GRCm39) missense possibly damaging 0.81
R6724:Spz1 UTSW 13 92,711,992 (GRCm39) missense possibly damaging 0.59
R7166:Spz1 UTSW 13 92,712,435 (GRCm39) missense probably benign 0.00
R8145:Spz1 UTSW 13 92,711,609 (GRCm39) missense probably benign 0.01
R8945:Spz1 UTSW 13 92,711,499 (GRCm39) missense possibly damaging 0.89
Posted On 2013-11-18