Incidental Mutation 'R6996:Spop'
ID 544227
Institutional Source Beutler Lab
Gene Symbol Spop
Ensembl Gene ENSMUSG00000057522
Gene Name speckle-type BTB/POZ protein
Synonyms TEF2
MMRRC Submission 045102-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 95304906-95384232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95362136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 56 (T56A)
Ref Sequence ENSEMBL: ENSMUSP00000118922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107722] [ENSMUST00000107724] [ENSMUST00000127713] [ENSMUST00000150884]
AlphaFold Q6ZWS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000107722
AA Change: T56A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103350
Gene: ENSMUSG00000057522
AA Change: T56A

DomainStartEndE-ValueType
MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107724
AA Change: T56A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103352
Gene: ENSMUSG00000057522
AA Change: T56A

DomainStartEndE-ValueType
MATH 36 142 4.41e-15 SMART
BTB 200 297 5.01e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127713
AA Change: T56A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118922
Gene: ENSMUSG00000057522
AA Change: T56A

DomainStartEndE-ValueType
PDB:2CR2|A 28 76 1e-22 PDB
SCOP:d1lb6a_ 33 70 1e-4 SMART
Blast:MATH 36 76 1e-15 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000150884
AA Change: T56A

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119650
Gene: ENSMUSG00000057522
AA Change: T56A

DomainStartEndE-ValueType
PDB:2CR2|A 28 94 3e-44 PDB
SCOP:d1czya1 33 94 4e-15 SMART
Blast:MATH 36 94 9e-38 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,296,517 (GRCm39) S310L probably damaging Het
Adamts16 C T 13: 70,946,157 (GRCm39) probably null Het
Arrb1 C A 7: 99,240,569 (GRCm39) D194E probably benign Het
Atp1a3 T C 7: 24,697,051 (GRCm39) D217G probably damaging Het
Bcar3 A G 3: 122,302,033 (GRCm39) I123V possibly damaging Het
Bdp1 G A 13: 100,180,321 (GRCm39) L1833F probably damaging Het
Cdc14a T C 3: 116,122,355 (GRCm39) Y155C probably damaging Het
Cdo1 C A 18: 46,853,380 (GRCm39) R126M possibly damaging Het
Cfap99 G T 5: 34,484,604 (GRCm39) R627L probably damaging Het
Efr3a T A 15: 65,720,030 (GRCm39) L369* probably null Het
Erich6 A C 3: 58,543,516 (GRCm39) F185V probably damaging Het
Fam186a T C 15: 99,853,374 (GRCm39) D122G unknown Het
Fank1 A G 7: 133,478,627 (GRCm39) I230M possibly damaging Het
Flg2 A T 3: 93,109,977 (GRCm39) E668D unknown Het
Flg2 A C 3: 93,110,256 (GRCm39) R761S unknown Het
Gabrr1 T C 4: 33,158,157 (GRCm39) L260P probably damaging Het
Gfm2 G A 13: 97,285,868 (GRCm39) R119K probably damaging Het
Gm14226 A G 2: 154,866,357 (GRCm39) T105A probably benign Het
Gm14496 A G 2: 181,637,997 (GRCm39) N357S probably damaging Het
Gm5916 G A 9: 36,039,935 (GRCm39) L18F probably benign Het
Golm1 A T 13: 59,790,058 (GRCm39) N247K probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Greb1 C T 12: 16,773,355 (GRCm39) A240T probably benign Het
Gtf3c6 T C 10: 40,125,774 (GRCm39) M148V probably benign Het
Guca1a T C 17: 47,706,102 (GRCm39) S126G probably benign Het
Hacl1 A T 14: 31,337,380 (GRCm39) I393N possibly damaging Het
Hddc3 A G 7: 79,993,498 (GRCm39) D68G possibly damaging Het
Hsfy2 T C 1: 56,675,569 (GRCm39) T323A possibly damaging Het
Kcng2 T C 18: 80,366,358 (GRCm39) probably benign Het
Kdm2a G T 19: 4,395,669 (GRCm39) P321T probably benign Het
Krt31 A G 11: 99,938,558 (GRCm39) V345A probably benign Het
Lrrc37 A T 11: 103,509,583 (GRCm39) L795* probably null Het
Mettl1 T C 10: 126,880,887 (GRCm39) S193P probably benign Het
Mme G A 3: 63,253,523 (GRCm39) D456N possibly damaging Het
Mmrn1 A G 6: 60,954,367 (GRCm39) T883A probably benign Het
Mphosph10 C G 7: 64,038,669 (GRCm39) E293Q probably benign Het
Muc16 C A 9: 18,557,193 (GRCm39) K3033N unknown Het
Myo16 C T 8: 10,619,496 (GRCm39) T1349M probably damaging Het
Myo5c T C 9: 75,157,746 (GRCm39) I233T probably benign Het
Or4p4b-ps1 A G 2: 88,454,189 (GRCm39) T181A unknown Het
Or52a33 T G 7: 103,289,065 (GRCm39) N94T probably benign Het
Or52ac1 A T 7: 104,246,018 (GRCm39) F123L probably benign Het
Or5b111 A T 19: 13,291,036 (GRCm39) S204R probably benign Het
Or5h22 A G 16: 58,894,555 (GRCm39) M296T probably benign Het
Or6c2 T A 10: 129,362,732 (GRCm39) V212E probably damaging Het
Or7c70 C A 10: 78,683,351 (GRCm39) V133L probably benign Het
Oxct2b A G 4: 123,011,480 (GRCm39) I467V probably benign Het
Parp1 A T 1: 180,414,936 (GRCm39) N425Y possibly damaging Het
Pcdhgc3 T A 18: 37,939,656 (GRCm39) V19D possibly damaging Het
Pfkl T A 10: 77,833,423 (GRCm39) I260F probably damaging Het
Pkd1l1 C T 11: 8,799,046 (GRCm39) G1789R probably damaging Het
Pla1a G A 16: 38,217,830 (GRCm39) A386V probably benign Het
Pml A G 9: 58,142,169 (GRCm39) L221P probably damaging Het
Rcn2 C T 9: 55,964,845 (GRCm39) Q268* probably null Het
Reps1 T A 10: 17,969,603 (GRCm39) D235E probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sap30bp A G 11: 115,824,314 (GRCm39) probably benign Het
Scn1a A T 2: 66,118,075 (GRCm39) S1433T probably damaging Het
Sde2 T C 1: 180,678,754 (GRCm39) V6A probably benign Het
Sdk1 C A 5: 142,197,769 (GRCm39) R2141S probably benign Het
Setd2 T C 9: 110,379,640 (GRCm39) S1152P probably damaging Het
Slc26a2 C T 18: 61,334,926 (GRCm39) V176I probably damaging Het
Snx7 A G 3: 117,640,281 (GRCm39) I76T possibly damaging Het
Specc1l C A 10: 75,082,113 (GRCm39) A520D probably benign Het
Syne2 T A 12: 76,074,786 (GRCm39) D4576E probably damaging Het
Tas2r134 A C 2: 51,517,601 (GRCm39) M27L probably benign Het
Tecta A C 9: 42,278,082 (GRCm39) I1142S probably benign Het
Timm44 T C 8: 4,316,611 (GRCm39) D311G possibly damaging Het
Tmem123 C G 9: 7,791,071 (GRCm39) T124R possibly damaging Het
Tmem184b A T 15: 79,246,959 (GRCm39) L370Q probably benign Het
Trim25 T A 11: 88,890,329 (GRCm39) N5K probably benign Het
Vmn2r93 A G 17: 18,524,903 (GRCm39) Y187C probably damaging Het
Vpreb1a A G 16: 16,686,678 (GRCm39) Y71H probably damaging Het
Vpreb1b T C 16: 17,798,441 (GRCm39) S5P probably benign Het
Xpo7 A T 14: 70,906,888 (GRCm39) C939S probably benign Het
Zfp78 C A 7: 6,381,764 (GRCm39) S271R probably benign Het
Zic5 A T 14: 122,702,080 (GRCm39) M217K probably benign 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
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
R8208:Spop UTSW 11 95,382,650 (GRCm39) missense probably damaging 1.00
R8687:Spop UTSW 11 95,361,337 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CCCTCCAGTGTTTTCAGAAGG -3'
(R):5'- ACCTGCAACTATTCTAGACAATGGG -3'

Sequencing Primer
(F):5'- ATGAACTGATTGATATCTTCCTGTGG -3'
(R):5'- GAATAAGAAAGTAAGGTCCCCGCC -3'
Posted On 2019-05-13