Incidental Mutation 'R1175:Sp100'
ID 99875
Institutional Source Beutler Lab
Gene Symbol Sp100
Ensembl Gene ENSMUSG00000026222
Gene Name nuclear antigen Sp100
Synonyms A430075G10Rik
MMRRC Submission 039248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R1175 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 85577709-85637719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85629141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 471 (N471D)
Ref Sequence ENSEMBL: ENSMUSP00000118481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066427] [ENSMUST00000132641] [ENSMUST00000147552] [ENSMUST00000150967] [ENSMUST00000155094] [ENSMUST00000153574]
AlphaFold O35892
Predicted Effect probably benign
Transcript: ENSMUST00000066427
AA Change: N471D

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: N471D

DomainStartEndE-ValueType
Pfam:Sp100 21 119 3.4e-40 PFAM
low complexity region 320 335 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
SAND 386 459 8.85e-38 SMART
BROMO 473 573 1.16e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000132641
AA Change: N104D

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120267
Gene: ENSMUSG00000026222
AA Change: N104D

DomainStartEndE-ValueType
SAND 19 92 8.85e-38 SMART
low complexity region 101 114 N/A INTRINSIC
PHD 117 159 5.97e-3 SMART
BROMO 184 284 5.49e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134283
Predicted Effect probably benign
Transcript: ENSMUST00000141709
SMART Domains Protein: ENSMUSP00000119301
Gene: ENSMUSG00000026222

DomainStartEndE-ValueType
PHD 36 78 5.97e-3 SMART
Blast:BROMO 103 136 2e-15 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000147552
AA Change: N453D

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222
AA Change: N453D

DomainStartEndE-ValueType
Pfam:Sp100 19 122 2.5e-46 PFAM
low complexity region 305 319 N/A INTRINSIC
low complexity region 349 359 N/A INTRINSIC
SAND 368 441 8.85e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150967
SMART Domains Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222

DomainStartEndE-ValueType
Pfam:Sp100 19 122 2.1e-46 PFAM
low complexity region 324 334 N/A INTRINSIC
SAND 343 416 8.85e-38 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000155094
AA Change: N471D

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: N471D

DomainStartEndE-ValueType
Pfam:Sp100 19 122 1.6e-46 PFAM
low complexity region 320 335 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
SAND 386 459 8.85e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153574
AA Change: N446D

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: N446D

DomainStartEndE-ValueType
Pfam:Sp100 19 122 9.2e-47 PFAM
low complexity region 342 352 N/A INTRINSIC
SAND 361 434 8.85e-38 SMART
Blast:BROMO 453 476 9e-6 BLAST
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Abca17 T C 17: 24,508,325 (GRCm39) E1070G possibly damaging Het
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anapc1 C A 2: 128,522,108 (GRCm39) C150F probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Arhgef18 T A 8: 3,439,023 (GRCm39) probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cntnap5c C A 17: 58,671,241 (GRCm39) T1143K possibly damaging Het
Col7a1 A C 9: 108,784,402 (GRCm39) T137P unknown Het
Defb8 C T 8: 19,495,910 (GRCm39) G50E probably damaging Het
Dimt1 T A 13: 107,086,193 (GRCm39) probably benign Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eci2 G T 13: 35,177,087 (GRCm39) N24K probably damaging Het
Fbn1 A T 2: 125,236,607 (GRCm39) C358S probably benign Het
Fbxl13 A T 5: 21,825,602 (GRCm39) probably benign Het
Fbxw11 T C 11: 32,661,922 (GRCm39) C121R probably damaging Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Gab1 C A 8: 81,511,471 (GRCm39) R458L probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gm19965 T A 1: 116,748,550 (GRCm39) probably benign Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Itpkc T C 7: 26,927,195 (GRCm39) I240V probably benign Het
Jakmip3 A G 7: 138,629,515 (GRCm39) D552G probably damaging Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Kdm3a T C 6: 71,577,011 (GRCm39) E768G possibly damaging Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Lamc1 T C 1: 153,122,977 (GRCm39) probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mast1 T C 8: 85,651,956 (GRCm39) E342G probably benign Het
Mgat5b T C 11: 116,868,622 (GRCm39) L515P probably damaging Het
Mink1 A G 11: 70,502,166 (GRCm39) D985G probably benign Het
Mphosph9 A G 5: 124,453,739 (GRCm39) V191A possibly damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Psmd8 A T 7: 28,875,598 (GRCm39) Y174N probably damaging Het
Ptgdr2 C A 19: 10,918,292 (GRCm39) R270S possibly damaging Het
Rasal2 A G 1: 156,975,218 (GRCm39) M1172T probably damaging Het
Rif1 A G 2: 51,997,640 (GRCm39) probably benign Het
Rnf123 C T 9: 107,954,572 (GRCm39) R48H probably benign Het
Rsrc1 T C 3: 67,263,551 (GRCm39) probably benign Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sis A G 3: 72,865,437 (GRCm39) probably benign Het
Skint4 T C 4: 111,981,793 (GRCm39) M246T probably benign Het
Snrnp200 C A 2: 127,070,997 (GRCm39) R1093S probably damaging Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Sufu T C 19: 46,389,703 (GRCm39) probably null Het
Synpo2l G A 14: 20,718,235 (GRCm39) T10I possibly damaging Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tent4b T A 8: 88,978,635 (GRCm39) F445L probably damaging Het
Terb1 G A 8: 105,210,938 (GRCm39) T363I probably benign Het
Timd4 C T 11: 46,708,498 (GRCm39) P175S probably damaging Het
Tlr3 C A 8: 45,850,171 (GRCm39) V833L probably damaging Het
Tpst2 T A 5: 112,455,911 (GRCm39) M150K probably damaging Het
Trim67 T A 8: 125,543,774 (GRCm39) V378E probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Uimc1 G A 13: 55,176,415 (GRCm39) T701I possibly damaging Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn1r60 A G 7: 5,547,621 (GRCm39) S160P probably benign Het
Vmn2r66 G T 7: 84,654,799 (GRCm39) D503E probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Zfp457 G A 13: 67,441,748 (GRCm39) P180S probably damaging Het
Other mutations in Sp100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Sp100 APN 1 85,597,741 (GRCm39) missense possibly damaging 0.48
IGL01998:Sp100 APN 1 85,594,650 (GRCm39) missense probably benign 0.01
IGL02192:Sp100 APN 1 85,635,722 (GRCm39) missense probably damaging 0.99
IGL02809:Sp100 APN 1 85,608,845 (GRCm39) missense probably damaging 0.99
IGL03274:Sp100 APN 1 85,635,025 (GRCm39) intron probably benign
PIT4458001:Sp100 UTSW 1 85,635,837 (GRCm39) missense probably benign 0.10
R0115:Sp100 UTSW 1 85,577,852 (GRCm39) splice site probably benign
R0599:Sp100 UTSW 1 85,608,831 (GRCm39) missense possibly damaging 0.68
R0620:Sp100 UTSW 1 85,587,588 (GRCm39) splice site probably null
R0693:Sp100 UTSW 1 85,594,726 (GRCm39) critical splice donor site probably null
R0709:Sp100 UTSW 1 85,622,002 (GRCm39) missense probably damaging 0.96
R0744:Sp100 UTSW 1 85,627,465 (GRCm39) missense probably damaging 0.97
R0836:Sp100 UTSW 1 85,627,465 (GRCm39) missense probably damaging 0.97
R1496:Sp100 UTSW 1 85,591,242 (GRCm39) splice site probably benign
R1749:Sp100 UTSW 1 85,627,357 (GRCm39) missense possibly damaging 0.95
R2046:Sp100 UTSW 1 85,636,786 (GRCm39) missense possibly damaging 0.53
R2069:Sp100 UTSW 1 85,608,863 (GRCm39) splice site probably null
R2441:Sp100 UTSW 1 85,631,210 (GRCm39) unclassified probably benign
R3933:Sp100 UTSW 1 85,608,830 (GRCm39) missense probably benign 0.29
R4171:Sp100 UTSW 1 85,634,562 (GRCm39) missense probably benign 0.00
R4762:Sp100 UTSW 1 85,629,179 (GRCm39) makesense probably null
R4863:Sp100 UTSW 1 85,632,724 (GRCm39) missense probably benign 0.03
R5156:Sp100 UTSW 1 85,601,404 (GRCm39) missense probably damaging 1.00
R5273:Sp100 UTSW 1 85,636,825 (GRCm39) missense possibly damaging 0.86
R5635:Sp100 UTSW 1 85,609,985 (GRCm39) intron probably benign
R5810:Sp100 UTSW 1 85,593,006 (GRCm39) missense probably benign 0.12
R5910:Sp100 UTSW 1 85,608,861 (GRCm39) critical splice donor site probably null
R5931:Sp100 UTSW 1 85,606,804 (GRCm39) missense probably damaging 1.00
R7466:Sp100 UTSW 1 85,634,960 (GRCm39) missense possibly damaging 0.93
R7514:Sp100 UTSW 1 85,608,860 (GRCm39) nonsense probably null
R7647:Sp100 UTSW 1 85,619,764 (GRCm39) missense possibly damaging 0.91
R7851:Sp100 UTSW 1 85,634,647 (GRCm39) missense probably benign 0.12
R7908:Sp100 UTSW 1 85,635,788 (GRCm39) missense possibly damaging 0.51
R8064:Sp100 UTSW 1 85,608,860 (GRCm39) nonsense probably null
R8094:Sp100 UTSW 1 85,624,819 (GRCm39) missense possibly damaging 0.95
R8757:Sp100 UTSW 1 85,590,285 (GRCm39) missense possibly damaging 0.92
R8785:Sp100 UTSW 1 85,627,472 (GRCm39) critical splice donor site probably benign
R9382:Sp100 UTSW 1 85,627,336 (GRCm39) missense probably damaging 0.99
R9453:Sp100 UTSW 1 85,629,179 (GRCm39) makesense probably null
R9464:Sp100 UTSW 1 85,624,751 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2014-01-15