Incidental Mutation 'R5443:Sp110'
ID 482210
Institutional Source Beutler Lab
Gene Symbol Sp110
Ensembl Gene ENSMUSG00000070034
Gene Name Sp110 nuclear body protein
Synonyms Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa
MMRRC Submission 043008-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R5443 (G1)
Quality Score 29.1
Status Validated
Chromosome 1
Chromosomal Location 85504620-85526538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85516841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 219 (E219K)
Ref Sequence ENSEMBL: ENSMUSP00000091226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093508]
AlphaFold Q8BVK9
PDB Structure Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093508
AA Change: E219K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: E219K

DomainStartEndE-ValueType
Pfam:Sp100 8 106 2.3e-41 PFAM
low complexity region 242 254 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
SAND 360 433 3.55e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186740
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.9%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,576 (GRCm39) E795D probably damaging Het
Aldh6a1 T C 12: 84,484,745 (GRCm39) probably null Het
Aox4 A G 1: 58,273,151 (GRCm39) probably null Het
Arhgap39 G A 15: 76,682,125 (GRCm39) probably benign Het
AW551984 T C 9: 39,509,325 (GRCm39) E272G possibly damaging Het
C1qc G A 4: 136,619,804 (GRCm39) probably benign Het
Carhsp1 C A 16: 8,482,203 (GRCm39) R26L probably benign Het
Cdh12 G T 15: 21,237,935 (GRCm39) V57L probably benign Het
Cfap298 G T 16: 90,724,099 (GRCm39) Q168K probably benign Het
Clec3a A G 8: 115,144,893 (GRCm39) Y23C probably benign Het
Crebrf G C 17: 26,961,328 (GRCm39) V150L probably damaging Het
Ddx41 G T 13: 55,683,104 (GRCm39) A201E probably benign Het
Doc2b T C 11: 75,670,921 (GRCm39) K237E probably damaging Het
Dst T C 1: 34,267,620 (GRCm39) S5199P probably damaging Het
Efnb2 A G 8: 8,670,862 (GRCm39) I129T probably damaging Het
Epg5 A G 18: 78,070,712 (GRCm39) E2329G possibly damaging Het
Esrrg A C 1: 187,775,622 (GRCm39) T27P possibly damaging Het
Fah T A 7: 84,241,604 (GRCm39) R316W probably damaging Het
Fat4 T C 3: 39,064,519 (GRCm39) L4825P probably damaging Het
Gabbr1 T C 17: 37,381,648 (GRCm39) V804A probably damaging Het
Gm1322 G A 2: 67,015,012 (GRCm39) noncoding transcript Het
Gm5114 T A 7: 39,058,289 (GRCm39) K443N probably benign Het
Gnai2 T C 9: 107,497,386 (GRCm39) I3V probably damaging Het
Gp2 G A 7: 119,053,821 (GRCm39) P47S possibly damaging Het
Klf15 C A 6: 90,444,342 (GRCm39) Q306K possibly damaging Het
Ly6a2 A T 15: 75,005,568 (GRCm39) noncoding transcript Het
Maco1 A T 4: 134,560,619 (GRCm39) C121* probably null Het
Necab2 A T 8: 120,195,032 (GRCm39) M295L probably benign Het
Nrg1 A T 8: 32,339,348 (GRCm39) Y208N probably damaging Het
Nup88 A T 11: 70,849,256 (GRCm39) Y232* probably null Het
Oacyl A G 18: 65,883,253 (GRCm39) R611G probably benign Het
Oasl1 T C 5: 115,074,129 (GRCm39) probably null Het
Or2n1e T A 17: 38,585,905 (GRCm39) M81K probably damaging Het
Or2y14 G T 11: 49,405,262 (GRCm39) G266C probably damaging Het
Or52h7 T C 7: 104,213,583 (GRCm39) Y52H probably benign Het
Or8k25 A C 2: 86,243,937 (GRCm39) I153R possibly damaging Het
Pate4 A C 9: 35,519,170 (GRCm39) S66A possibly damaging Het
Pigl T A 11: 62,349,309 (GRCm39) C8* probably null Het
Plg G A 17: 12,601,070 (GRCm39) A51T probably benign Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ppig A T 2: 69,564,635 (GRCm39) D97V probably damaging Het
Ppp1r16a A G 15: 76,578,846 (GRCm39) K517E possibly damaging Het
Prr16 A T 18: 51,436,225 (GRCm39) S235C probably damaging Het
Psmd1 G A 1: 86,017,905 (GRCm39) R572H probably damaging Het
Sbf2 T C 7: 109,977,135 (GRCm39) probably benign Het
Scrt2 A T 2: 151,924,043 (GRCm39) Y25F probably benign Het
Sema6d A T 2: 124,498,756 (GRCm39) H222L probably damaging Het
Septin2 A G 1: 93,425,174 (GRCm39) N110S possibly damaging Het
Shpk G A 11: 73,113,607 (GRCm39) G340D possibly damaging Het
Smg5 T A 3: 88,261,896 (GRCm39) L723H probably damaging Het
Spo11 T C 2: 172,831,152 (GRCm39) probably benign Het
Srarp T A 4: 141,163,388 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tm9sf2 A T 14: 122,363,607 (GRCm39) Y109F probably damaging Het
Tpcn2 A T 7: 144,809,209 (GRCm39) M699K possibly damaging Het
Trim34a T C 7: 103,909,420 (GRCm39) F289S possibly damaging Het
Trim39 T C 17: 36,571,645 (GRCm39) H371R probably damaging Het
Usp48 T A 4: 137,348,532 (GRCm39) I11N possibly damaging Het
Zbtb10 T C 3: 9,345,108 (GRCm39) F677L probably benign Het
Zer1 C T 2: 30,001,008 (GRCm39) G138S probably damaging Het
Zfp612 A G 8: 110,816,227 (GRCm39) K439R possibly damaging Het
Other mutations in Sp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Sp110 APN 1 85,505,050 (GRCm39) missense probably benign
IGL00510:Sp110 APN 1 85,505,050 (GRCm39) missense probably benign
IGL00516:Sp110 APN 1 85,505,050 (GRCm39) missense probably benign
IGL00990:Sp110 APN 1 85,514,002 (GRCm39) missense possibly damaging 0.51
IGL03382:Sp110 APN 1 85,505,050 (GRCm39) missense probably benign
FR4342:Sp110 UTSW 1 85,515,209 (GRCm39) small insertion probably benign
FR4976:Sp110 UTSW 1 85,515,210 (GRCm39) small insertion probably benign
IGL03147:Sp110 UTSW 1 85,519,288 (GRCm39) frame shift probably null
PIT4131001:Sp110 UTSW 1 85,513,975 (GRCm39) missense probably benign 0.01
PIT4131001:Sp110 UTSW 1 85,513,971 (GRCm39) missense probably benign 0.05
PIT4142001:Sp110 UTSW 1 85,513,975 (GRCm39) missense probably benign 0.01
PIT4142001:Sp110 UTSW 1 85,513,971 (GRCm39) missense probably benign 0.05
R0472:Sp110 UTSW 1 85,516,841 (GRCm39) missense possibly damaging 0.79
R0483:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R0551:Sp110 UTSW 1 85,516,821 (GRCm39) splice site probably benign
R0638:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R0806:Sp110 UTSW 1 85,514,002 (GRCm39) missense possibly damaging 0.51
R0806:Sp110 UTSW 1 85,513,975 (GRCm39) missense probably benign 0.01
R1074:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R1079:Sp110 UTSW 1 85,516,825 (GRCm39) splice site probably benign
R1228:Sp110 UTSW 1 85,519,481 (GRCm39) missense probably benign 0.03
R1403:Sp110 UTSW 1 85,506,800 (GRCm39) missense probably benign 0.00
R1406:Sp110 UTSW 1 85,506,800 (GRCm39) missense probably benign 0.00
R1418:Sp110 UTSW 1 85,522,106 (GRCm39) missense probably benign 0.08
R1718:Sp110 UTSW 1 85,522,106 (GRCm39) missense probably benign 0.08
R1744:Sp110 UTSW 1 85,522,093 (GRCm39) missense probably benign 0.26
R1747:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R1806:Sp110 UTSW 1 85,523,831 (GRCm39) critical splice acceptor site probably null
R1957:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R2404:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R2964:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R3176:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R4190:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R4398:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R4505:Sp110 UTSW 1 85,516,894 (GRCm39) missense probably damaging 1.00
R4565:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R4625:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R4922:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R4986:Sp110 UTSW 1 85,519,481 (GRCm39) missense probably benign 0.03
R5014:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R5080:Sp110 UTSW 1 85,523,776 (GRCm39) nonsense probably null
R5087:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5254:Sp110 UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5335:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5353:Sp110 UTSW 1 85,516,841 (GRCm39) missense possibly damaging 0.79
R5383:Sp110 UTSW 1 85,519,290 (GRCm39) frame shift probably null
R5387:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5389:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5398:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5447:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5729:Sp110 UTSW 1 85,516,839 (GRCm39) missense probably damaging 0.99
R5752:Sp110 UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5754:Sp110 UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5799:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R6027:Sp110 UTSW 1 85,505,039 (GRCm39) missense possibly damaging 0.83
R6171:Sp110 UTSW 1 85,505,050 (GRCm39) missense probably benign
R6367:Sp110 UTSW 1 85,522,013 (GRCm39) missense probably benign 0.00
R6771:Sp110 UTSW 1 85,520,000 (GRCm39) splice site probably null
R7097:Sp110 UTSW 1 85,507,406 (GRCm39) missense possibly damaging 0.80
R7519:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7520:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7594:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7596:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7598:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7600:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7601:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7602:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7640:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7641:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7674:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7691:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R7695:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
R8072:Sp110 UTSW 1 85,515,207 (GRCm39) small insertion probably benign
R8794:Sp110 UTSW 1 85,511,231 (GRCm39) critical splice donor site probably null
R9284:Sp110 UTSW 1 85,507,363 (GRCm39) critical splice donor site probably null
R9350:Sp110 UTSW 1 85,506,813 (GRCm39) missense probably benign 0.01
X0035:Sp110 UTSW 1 85,513,975 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCTATCCCAAGCAAGGTTG -3'
(R):5'- CTGCCTTCCTTACTGGTTAGAA -3'

Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GCCTTCCTTACTGGTTAGAATCACTG -3'
Posted On 2017-07-11