Incidental Mutation 'R8208:Spop'
ID 636019
Institutional Source Beutler Lab
Gene Symbol Spop
Ensembl Gene ENSMUSG00000057522
Gene Name speckle-type BTB/POZ protein
Synonyms TEF2
MMRRC Submission 067631-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8208 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 95304906-95384232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95382650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 370 (R370C)
Ref Sequence ENSEMBL: ENSMUSP00000103350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107722] [ENSMUST00000107724]
AlphaFold Q6ZWS8
Predicted Effect probably damaging
Transcript: ENSMUST00000107722
AA Change: R370C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103350
Gene: ENSMUSG00000057522
AA Change: R370C

DomainStartEndE-ValueType
MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107724
AA Change: R370C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103352
Gene: ENSMUSG00000057522
AA Change: R370C

DomainStartEndE-ValueType
MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (47/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 G A 6: 58,642,227 (GRCm39) V172I possibly damaging Het
Agbl1 T A 7: 76,369,916 (GRCm39) C924S unknown Het
Arhgap11a T C 2: 113,673,284 (GRCm39) S100G probably benign Het
Chd9 T A 8: 91,763,891 (GRCm39) probably null Het
Col1a2 T A 6: 4,515,260 (GRCm39) probably null Het
Colec10 C G 15: 54,325,696 (GRCm39) H175Q possibly damaging Het
Cyp46a1 A T 12: 108,318,171 (GRCm39) probably null Het
Dennd4b T A 3: 90,178,278 (GRCm39) I501N possibly damaging Het
Dnah2 A G 11: 69,411,678 (GRCm39) F315L probably benign Het
Emilin1 A G 5: 31,074,860 (GRCm39) E367G probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Folh1 A T 7: 86,375,125 (GRCm39) H620Q probably damaging Het
Galnt10 A T 11: 57,536,398 (GRCm39) E5V possibly damaging Het
Gmcl1 A G 6: 86,698,381 (GRCm39) V172A probably damaging Het
Greb1l T C 18: 10,510,703 (GRCm39) L599P probably damaging Het
Hcn2 T A 10: 79,566,778 (GRCm39) M485K possibly damaging Het
Hirip3 G T 7: 126,463,595 (GRCm39) C494F probably damaging Het
Hsfy2 A G 1: 56,676,310 (GRCm39) F76L probably benign Het
Lamc3 A G 2: 31,777,426 (GRCm39) H24R possibly damaging Het
Laptm4b G A 15: 34,277,591 (GRCm39) S174N probably damaging Het
Lgals8 A G 13: 12,468,255 (GRCm39) Y125H probably damaging Het
Mapk14 A T 17: 28,943,807 (GRCm39) Y132F probably damaging Het
Mxd4 A T 5: 34,335,070 (GRCm39) I115N probably benign Het
Ndufaf1 T C 2: 119,490,827 (GRCm39) T80A probably benign Het
Or10ag53 A G 2: 87,083,007 (GRCm39) K242R probably benign Het
Or11h6 T C 14: 50,880,088 (GRCm39) F117L probably benign Het
Or56a5 T A 7: 104,792,625 (GRCm39) I298F probably damaging Het
Or5k3 C A 16: 58,969,382 (GRCm39) H56Q probably benign Het
Pcf11 G T 7: 92,298,731 (GRCm39) N1268K probably damaging Het
Plcl2 T C 17: 50,915,343 (GRCm39) V784A probably damaging Het
Ptp4a2 C T 4: 129,736,485 (GRCm39) T40I probably benign Het
Rab2b C T 14: 52,502,224 (GRCm39) A159T possibly damaging Het
Sec61a2 G T 2: 5,881,809 (GRCm39) T207K probably benign Het
Serpina5 A G 12: 104,071,532 (GRCm39) I380V probably benign Het
Slc26a2 C T 18: 61,331,806 (GRCm39) V542M probably damaging Het
Snd1 C T 6: 28,526,054 (GRCm39) P144L possibly damaging Het
Sptbn1 T C 11: 30,074,972 (GRCm39) D1300G probably damaging Het
Sptbn5 T A 2: 119,878,326 (GRCm39) K891* noncoding transcript Het
Tnrc6b G A 15: 80,742,901 (GRCm39) E45K possibly damaging Het
Tpst1 A G 5: 130,130,751 (GRCm39) I74V probably benign Het
Ttn T C 2: 76,556,192 (GRCm39) H30271R probably damaging Het
Ush2a G T 1: 188,606,990 (GRCm39) A3962S possibly damaging Het
Vmn1r200 G A 13: 22,579,470 (GRCm39) R91H probably damaging Het
Vmn2r22 T A 6: 123,614,444 (GRCm39) N382I probably damaging Het
Vmn2r53 A G 7: 12,335,322 (GRCm39) S113P probably damaging Het
Zfp335 C A 2: 164,735,536 (GRCm39) probably null Het
Other mutations in Spop
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02523:Spop APN 11 95,376,747 (GRCm39) missense possibly damaging 0.47
IGL02797:Spop APN 11 95,372,909 (GRCm39) missense probably damaging 1.00
R0885:Spop UTSW 11 95,361,453 (GRCm39) missense probably benign 0.00
R1961:Spop UTSW 11 95,382,537 (GRCm39) missense possibly damaging 0.56
R5546:Spop UTSW 11 95,376,669 (GRCm39) missense probably damaging 1.00
R5729:Spop UTSW 11 95,376,675 (GRCm39) missense possibly damaging 0.53
R5757:Spop UTSW 11 95,381,208 (GRCm39) missense probably damaging 1.00
R6207:Spop UTSW 11 95,362,063 (GRCm39) missense possibly damaging 0.75
R6515:Spop UTSW 11 95,376,761 (GRCm39) missense possibly damaging 0.73
R6996:Spop UTSW 11 95,362,136 (GRCm39) missense possibly damaging 0.75
R7414:Spop UTSW 11 95,365,334 (GRCm39) missense probably damaging 1.00
R7468:Spop UTSW 11 95,376,727 (GRCm39) missense probably damaging 0.99
R7922:Spop UTSW 11 95,362,154 (GRCm39) missense probably damaging 0.98
R8029:Spop UTSW 11 95,365,193 (GRCm39) missense probably benign 0.14
R8687:Spop UTSW 11 95,361,337 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CATGTGCACACTCCCTGTAC -3'
(R):5'- TTCATCAGGTTGAGTGGCCC -3'

Sequencing Primer
(F):5'- ATGTGCACACTCCCTGTACTAACC -3'
(R):5'- AGTCCCCCTAAGTTATTTAGTGCTG -3'
Posted On 2020-07-13