Incidental Mutation 'R0378:Sp140'
ID216061
Institutional Source Beutler Lab
Gene Symbol Sp140
Ensembl Gene ENSMUSG00000070031
Gene NameSp140 nuclear body protein
Synonyms
MMRRC Submission 038584-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.387) question?
Stock #R0378 (G1)
Quality Score24
Status Validated
Chromosome1
Chromosomal Location85600378-85645037 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 85620051 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000080204]
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,743,117 R651L probably damaging Het
Amd1 T C 10: 40,289,384 D317G possibly damaging Het
Artn A G 4: 117,927,618 probably benign Het
Asna1 A T 8: 85,025,264 M1K probably null Het
Bub1b T A 2: 118,641,123 V988E probably benign Het
Cyp2c65 G T 19: 39,073,218 C216F probably benign Het
Cyp3a11 T C 5: 145,868,607 E200G probably benign Het
Cyp3a25 T A 5: 145,986,842 K330N probably damaging Het
Duox2 C A 2: 122,284,583 V1138L probably benign Het
Erc2 A G 14: 28,011,694 D567G probably damaging Het
Eri2 A G 7: 119,793,916 probably null Het
Foxa3 A G 7: 19,023,369 Y17H probably damaging Het
Fto T C 8: 91,474,312 S324P probably damaging Het
Gls2 T G 10: 128,207,311 L457R probably benign Het
Gstcd A T 3: 132,986,408 L582H probably damaging Het
Gtf3c1 G A 7: 125,647,614 R1508* probably null Het
Kif21a T C 15: 90,969,774 probably null Het
Klra5 A T 6: 129,906,614 D93E possibly damaging Het
Lgr5 T C 10: 115,454,499 D456G probably damaging Het
Mau2 A G 8: 70,030,655 S186P probably damaging Het
Msr1 T C 8: 39,589,382 D384G possibly damaging Het
Mum1 C A 10: 80,238,879 probably null Het
Ncf4 T C 15: 78,253,303 V93A probably damaging Het
Oas1f T G 5: 120,856,426 C337G probably damaging Het
Olfr119 A G 17: 37,701,041 M124V probably damaging Het
Olfr482 A T 7: 108,095,222 F116Y probably benign Het
Olfr820 T A 10: 130,018,003 L214H probably damaging Het
Rasl10b T C 11: 83,418,693 S159P probably damaging Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Smg8 C A 11: 87,080,423 D841Y probably damaging Het
Sox7 T C 14: 63,943,949 V65A probably damaging Het
Srsf10 A G 4: 135,863,190 Y142C possibly damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tcerg1l A G 7: 138,276,655 V326A probably benign Het
Tcl1b5 T A 12: 105,179,067 W97R probably damaging Het
Tmem108 T C 9: 103,499,657 R198G possibly damaging Het
Ube2ql1 T A 13: 69,738,898 Q148L possibly damaging Het
Vmn1r5 A T 6: 56,985,585 I82L probably benign Het
Wdr6 A T 9: 108,575,864 S273R probably damaging Het
Ylpm1 C T 12: 84,997,076 probably benign Het
Zfp90 G A 8: 106,425,506 R617Q possibly damaging Het
Other mutations in Sp140
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Sp140 APN 1 85641822 nonsense probably null
IGL00561:Sp140 APN 1 85621672 missense probably benign 0.00
IGL00572:Sp140 APN 1 85621672 missense probably benign 0.00
IGL00591:Sp140 APN 1 85621672 missense probably benign 0.00
IGL00990:Sp140 APN 1 85626165 missense possibly damaging 0.59
IGL00990:Sp140 APN 1 85626133 missense probably benign 0.00
IGL02106:Sp140 APN 1 85643219 missense probably benign 0.01
IGL02303:Sp140 APN 1 85643009 nonsense probably null
PIT4131001:Sp140 UTSW 1 85601172 missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85610882 missense probably benign 0.03
PIT4131001:Sp140 UTSW 1 85643221 missense probably benign
PIT4142001:Sp140 UTSW 1 85601172 missense probably benign 0.03
PIT4142001:Sp140 UTSW 1 85610882 missense probably benign 0.03
PIT4142001:Sp140 UTSW 1 85643221 missense probably benign
R0815:Sp140 UTSW 1 85620051 splice site probably benign
R1320:Sp140 UTSW 1 85635608 critical splice donor site probably null
R1642:Sp140 UTSW 1 85610824 unclassified probably null
R1791:Sp140 UTSW 1 85620051 splice site probably benign
R4776:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R4780:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R4839:Sp140 UTSW 1 85610808 unclassified probably benign
R5051:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R5287:Sp140 UTSW 1 85610824 unclassified probably null
R5379:Sp140 UTSW 1 85610828 missense possibly damaging 0.46
R6518:Sp140 UTSW 1 85644570 critical splice acceptor site probably benign
R7125:Sp140 UTSW 1 85644569 critical splice acceptor site probably benign
R7128:Sp140 UTSW 1 85620125 missense possibly damaging 0.63
Predicted Primers
Posted On2014-07-18