Incidental Mutation 'R0815:Sp140'
ID 218896
Institutional Source Beutler Lab
Gene Symbol Sp140
Ensembl Gene ENSMUSG00000070031
Gene Name Sp140 nuclear body protein
Synonyms
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R0815 (G1)
Quality Score 38
Status Validated
Chromosome 1
Chromosomal Location 85528099-85572758 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 85547772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000080204]
AlphaFold Q6NSQ5
Predicted Effect probably benign
Transcript: ENSMUST00000080204
SMART Domains Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031

DomainStartEndE-ValueType
Pfam:Sp100 24 121 5.1e-40 PFAM
low complexity region 213 223 N/A INTRINSIC
low complexity region 240 248 N/A INTRINSIC
SAND 256 329 4.17e-34 SMART
PHD 360 402 3.7e-8 SMART
BROMO 423 526 4.49e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162925
SMART Domains Protein: ENSMUSP00000123756
Gene: ENSMUSG00000070031

DomainStartEndE-ValueType
low complexity region 117 127 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Sp140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Sp140 APN 1 85,569,543 (GRCm39) nonsense probably null
IGL00561:Sp140 APN 1 85,549,393 (GRCm39) missense probably benign 0.00
IGL00572:Sp140 APN 1 85,549,393 (GRCm39) missense probably benign 0.00
IGL00591:Sp140 APN 1 85,549,393 (GRCm39) missense probably benign 0.00
IGL00990:Sp140 APN 1 85,553,854 (GRCm39) missense probably benign 0.00
IGL00990:Sp140 APN 1 85,553,886 (GRCm39) missense possibly damaging 0.59
IGL02106:Sp140 APN 1 85,570,940 (GRCm39) missense probably benign 0.01
IGL02303:Sp140 APN 1 85,570,730 (GRCm39) nonsense probably null
PIT4131001:Sp140 UTSW 1 85,538,603 (GRCm39) missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85,528,893 (GRCm39) missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85,570,942 (GRCm39) missense probably benign
PIT4142001:Sp140 UTSW 1 85,570,942 (GRCm39) missense probably benign
PIT4142001:Sp140 UTSW 1 85,538,603 (GRCm39) missense probably benign 0.03
PIT4142001:Sp140 UTSW 1 85,528,893 (GRCm39) missense probably benign 0.03
R0378:Sp140 UTSW 1 85,547,772 (GRCm39) splice site probably benign
R1320:Sp140 UTSW 1 85,563,329 (GRCm39) critical splice donor site probably null
R1642:Sp140 UTSW 1 85,538,545 (GRCm39) splice site probably null
R1791:Sp140 UTSW 1 85,547,772 (GRCm39) splice site probably benign
R4776:Sp140 UTSW 1 85,538,549 (GRCm39) missense possibly damaging 0.46
R4780:Sp140 UTSW 1 85,538,549 (GRCm39) missense possibly damaging 0.46
R4839:Sp140 UTSW 1 85,538,529 (GRCm39) unclassified probably benign
R5051:Sp140 UTSW 1 85,538,549 (GRCm39) missense possibly damaging 0.46
R5287:Sp140 UTSW 1 85,538,545 (GRCm39) splice site probably null
R5379:Sp140 UTSW 1 85,538,549 (GRCm39) missense possibly damaging 0.46
R6518:Sp140 UTSW 1 85,572,291 (GRCm39) critical splice acceptor site probably benign
R7125:Sp140 UTSW 1 85,572,290 (GRCm39) critical splice acceptor site probably benign
R7128:Sp140 UTSW 1 85,547,846 (GRCm39) missense possibly damaging 0.63
R7785:Sp140 UTSW 1 85,547,819 (GRCm39) missense probably benign 0.00
R8033:Sp140 UTSW 1 85,547,815 (GRCm39) missense probably benign 0.01
R8481:Sp140 UTSW 1 85,569,512 (GRCm39) missense probably damaging 0.99
R8501:Sp140 UTSW 1 85,569,461 (GRCm39) missense probably damaging 1.00
R8830:Sp140 UTSW 1 85,572,295 (GRCm39) critical splice acceptor site probably benign
R8994:Sp140 UTSW 1 85,549,603 (GRCm39) splice site probably null
R9053:Sp140 UTSW 1 85,572,290 (GRCm39) critical splice acceptor site probably benign
R9137:Sp140 UTSW 1 85,570,297 (GRCm39) missense probably damaging 0.99
R9594:Sp140 UTSW 1 85,560,235 (GRCm39) missense possibly damaging 0.50
R9777:Sp140 UTSW 1 85,569,461 (GRCm39) missense probably damaging 0.99
Z1191:Sp140 UTSW 1 85,569,524 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AAGGCTTGCTTCTGACCTGCTG -3'
(R):5'- GCTATGGGTTCTCACTGAGCCATC -3'

Sequencing Primer
(F):5'- ggggggaggggcagtag -3'
(R):5'- TGAGCCATCCCTAACCCAGG -3'
Posted On 2014-08-22