Incidental Mutation 'R5922:Spz1'
ID 461650
Institutional Source Beutler Lab
Gene Symbol Spz1
Ensembl Gene ENSMUSG00000046957
Gene Name spermatogenic leucine zipper 1
Synonyms 1700027M20Rik
MMRRC Submission 043240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5922 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 92711144-92712680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92712106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 123 (D123E)
Ref Sequence ENSEMBL: ENSMUSP00000054083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050658]
AlphaFold Q99MY0
Predicted Effect possibly damaging
Transcript: ENSMUST00000050658
AA Change: D123E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054083
Gene: ENSMUSG00000046957
AA Change: D123E

DomainStartEndE-ValueType
coiled coil region 182 223 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atr A G 9: 95,785,735 (GRCm39) D1429G probably benign Het
Brinp2 A T 1: 158,076,925 (GRCm39) V390D possibly damaging Het
Cpn1 T C 19: 43,974,532 (GRCm39) S66G probably damaging Het
Dnal1 C A 12: 84,173,746 (GRCm39) L55M probably damaging Het
Dus2 G A 8: 106,780,037 (GRCm39) R453Q possibly damaging Het
Efcab5 T C 11: 77,079,570 (GRCm39) T59A probably benign Het
Elmo1 A G 13: 20,789,339 (GRCm39) D685G probably damaging Het
Ern1 T C 11: 106,312,556 (GRCm39) E275G probably damaging Het
Etnk2 A G 1: 133,291,623 (GRCm39) probably null Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Gjb2 A G 14: 57,337,755 (GRCm39) M151T probably benign Het
Heatr9 C T 11: 83,403,193 (GRCm39) probably null Het
Herpud2 G A 9: 25,020,280 (GRCm39) L359F probably benign Het
Hpx C T 7: 105,244,831 (GRCm39) R118H probably damaging Het
Hyal2 A G 9: 107,448,106 (GRCm39) Y253C probably damaging Het
Igkv14-130 T C 6: 67,768,206 (GRCm39) C22R probably damaging Het
Ms4a6b T A 19: 11,497,743 (GRCm39) I14N possibly damaging Het
Myb T A 10: 21,028,826 (GRCm39) I91F probably damaging Het
Myh6 C T 14: 55,183,931 (GRCm39) D1668N probably damaging Het
Noc2l C T 4: 156,325,770 (GRCm39) Q182* probably null Het
Nsd1 A G 13: 55,395,288 (GRCm39) N1066S probably benign Het
Nup98 A G 7: 101,803,224 (GRCm39) Y659H probably damaging Het
Nutm1 T C 2: 112,079,659 (GRCm39) E752G possibly damaging Het
Paqr6 G T 3: 88,273,544 (GRCm39) A154S probably benign Het
Pdlim7 G T 13: 55,656,768 (GRCm39) T62K probably damaging Het
Pibf1 A G 14: 99,374,524 (GRCm39) D321G probably benign Het
Plrg1 T A 3: 82,964,155 (GRCm39) N29K possibly damaging Het
Scimp A C 11: 70,691,642 (GRCm39) probably null Het
Sec16a T C 2: 26,305,651 (GRCm39) N2251S probably benign Het
Sec61a2 A T 2: 5,879,134 (GRCm39) D291E possibly damaging Het
Serpina3i A G 12: 104,232,766 (GRCm39) K224E probably benign Het
St14 A T 9: 31,041,200 (GRCm39) probably benign Het
Ush1c A T 7: 45,853,552 (GRCm39) probably null Het
Usp54 T C 14: 20,602,139 (GRCm39) probably null Het
Zfhx3 C T 8: 109,673,330 (GRCm39) T1460M probably damaging Het
Zfp712 G T 13: 67,189,668 (GRCm39) N286K probably benign Het
Other mutations in Spz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Spz1 APN 13 92,712,029 (GRCm39) missense probably damaging 0.98
IGL01473:Spz1 APN 13 92,711,764 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGGTGAAGGGATCCATTCCG -3'
(R):5'- GAAATCGGATCACTCCCCACTG -3'

Sequencing Primer
(F):5'- AAGGGATCCATTCCGCGGTC -3'
(R):5'- CAAAGAATAGCATCTGTCCAGTAG -3'
Posted On 2017-02-28