Incidental Mutation 'IGL02797:Spop'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spop
Ensembl Gene ENSMUSG00000057522
Gene Namespeckle-type POZ protein
SynonymsPcif1, TEF2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02797
Quality Score
Chromosomal Location95414080-95493406 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95482083 bp
Amino Acid Change Isoleucine to Asparagine at position 217 (I217N)
Ref Sequence ENSEMBL: ENSMUSP00000103352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107722] [ENSMUST00000107724]
Predicted Effect probably damaging
Transcript: ENSMUST00000107722
AA Change: I217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103350
Gene: ENSMUSG00000057522
AA Change: I217N

MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107724
AA Change: I217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103352
Gene: ENSMUSG00000057522
AA Change: I217N

MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150922
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 protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased beta cell area and lethality between E18.5 and P1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Il12b A G 11: 44,410,353 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Skap1 A G 11: 96,713,017 D211G possibly damaging Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sntg2 T G 12: 30,226,892 Y387S possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Tmeff2 C T 1: 50,928,047 R34C probably damaging Het
Treml2 C T 17: 48,302,711 A57V possibly damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Spop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02523:Spop APN 11 95485921 missense possibly damaging 0.47
R0885:Spop UTSW 11 95470627 missense probably benign 0.00
R1961:Spop UTSW 11 95491711 missense possibly damaging 0.56
R5546:Spop UTSW 11 95485843 missense probably damaging 1.00
R5729:Spop UTSW 11 95485849 missense possibly damaging 0.53
R5757:Spop UTSW 11 95490382 missense probably damaging 1.00
R6207:Spop UTSW 11 95471237 missense possibly damaging 0.75
R6515:Spop UTSW 11 95485935 missense possibly damaging 0.73
R6996:Spop UTSW 11 95471310 missense possibly damaging 0.75
R7414:Spop UTSW 11 95474508 missense probably damaging 1.00
R7468:Spop UTSW 11 95485901 missense probably damaging 0.99
R7922:Spop UTSW 11 95471328 missense probably damaging 0.98
R8029:Spop UTSW 11 95474367 missense probably benign 0.14
R8208:Spop UTSW 11 95491824 missense probably damaging 1.00
Posted On2015-12-18