Incidental Mutation 'R5087:Sp110'
ID 458144
Institutional Source Beutler Lab
Gene Symbol Sp110
Ensembl Gene ENSMUSG00000070034
Gene Name Sp110 nuclear body protein
Synonyms Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa
MMRRC Submission 042676-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R5087 (G1)
Quality Score 40
Status Validated
Chromosome 1
Chromosomal Location 85504620-85526538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 85516839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 219 (E219D)
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 probably damaging
Transcript: ENSMUST00000093508
AA Change: E219D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: E219D

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A G 1: 9,631,851 (GRCm39) probably benign Het
Anln T C 9: 22,286,340 (GRCm39) T322A possibly damaging Het
Best3 A T 10: 116,844,907 (GRCm39) Y354F probably benign Het
Cd44 C T 2: 102,661,699 (GRCm39) V509I possibly damaging Het
Cdk5rap1 T C 2: 154,184,315 (GRCm39) N529S probably damaging Het
Cnst A G 1: 179,450,378 (GRCm39) D614G possibly damaging Het
Cpq T C 15: 33,213,008 (GRCm39) I9T probably benign Het
Cyp2j6 T C 4: 96,419,936 (GRCm39) H265R probably damaging Het
Dctn1 T A 6: 83,168,621 (GRCm39) M458K probably damaging Het
Disc1 A C 8: 125,858,899 (GRCm39) I454L probably benign Het
Dnaja4 A G 9: 54,607,023 (GRCm39) E4G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eipr1 C A 12: 28,878,855 (GRCm39) N136K probably benign Het
Fut11 A G 14: 20,746,229 (GRCm39) N357S probably damaging Het
Gbp2b C T 3: 142,304,015 (GRCm39) P37S probably damaging Het
Ghr T G 15: 3,349,622 (GRCm39) K519Q probably damaging Het
Gipr C A 7: 18,893,689 (GRCm39) C328F probably damaging Het
Gm27013 A T 6: 130,654,633 (GRCm39) N276K probably damaging Het
Got2 C A 8: 96,598,951 (GRCm39) K150N probably benign Het
Gucy2c A G 6: 136,744,033 (GRCm39) S189P possibly damaging Het
H2-T5 C A 17: 36,476,308 (GRCm39) G347* probably null Het
Hells T C 19: 38,932,189 (GRCm39) V153A probably benign Het
Ighd G A 12: 113,378,047 (GRCm39) probably benign Het
Inhca C T 9: 103,143,420 (GRCm39) V361M probably damaging Het
Itga4 A C 2: 79,145,973 (GRCm39) D725A possibly damaging Het
Itgbl1 T A 14: 124,204,151 (GRCm39) L414Q possibly damaging Het
Kat2b-ps A G 5: 93,539,585 (GRCm39) noncoding transcript Het
Lrrc1 A T 9: 77,364,740 (GRCm39) S192T probably benign Het
Mc2r A T 18: 68,541,274 (GRCm39) N6K probably benign Het
Moxd2 A C 6: 40,856,270 (GRCm39) L534W probably damaging Het
Myh4 A T 11: 67,146,235 (GRCm39) D1431V probably damaging Het
Naa15 T A 3: 51,364,706 (GRCm39) probably null Het
Naa16 G A 14: 79,614,855 (GRCm39) T215I possibly damaging Het
Ntng1 A T 3: 110,042,645 (GRCm39) Y60* probably null Het
Or1e29 T C 11: 73,668,084 (GRCm39) Y23C possibly damaging Het
Or2g25 A T 17: 37,970,612 (GRCm39) V204E probably damaging Het
Pccb T C 9: 100,867,296 (GRCm39) probably benign Het
Pcnx1 C A 12: 82,041,713 (GRCm39) P2115Q probably damaging Het
Pfkfb3 G A 2: 11,488,825 (GRCm39) T313I probably damaging Het
Pld1 A G 3: 28,178,731 (GRCm39) N875S probably damaging Het
Ptpn20 A T 14: 33,336,398 (GRCm39) D79V possibly damaging Het
Rabgap1l C A 1: 160,549,809 (GRCm39) V266L probably damaging Het
Reep6 A G 10: 80,171,009 (GRCm39) D295G probably damaging Het
Sass6 T C 3: 116,403,947 (GRCm39) L195P probably damaging Het
Slc25a27 A G 17: 43,977,821 (GRCm39) S25P probably damaging Het
Smok2b T A 17: 13,454,011 (GRCm39) M57K probably benign Het
Sspo T C 6: 48,465,405 (GRCm39) V71A possibly damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Stard9 T A 2: 120,527,500 (GRCm39) Y1252* probably null Het
Syde2 T A 3: 145,712,881 (GRCm39) D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tmc5 G A 7: 118,244,609 (GRCm39) A496T possibly damaging Het
Ttn A G 2: 76,566,704 (GRCm39) V28063A probably damaging Het
Usp25 A C 16: 76,874,007 (GRCm39) I528L probably benign Het
Vmn1r58 C T 7: 5,413,666 (GRCm39) S188N probably benign Het
Wfikkn2 A T 11: 94,129,173 (GRCm39) C323S probably damaging Het
Zfy1 A C Y: 732,964 (GRCm39) S290A unknown 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
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
R5443:Sp110 UTSW 1 85,516,841 (GRCm39) missense possibly damaging 0.79
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'- AAGCTATCCCAAGCAAGGTTG -3'
(R):5'- TGCCTTCCTTACTGGTTAGAATCA -3'

Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GGTTAGAATCACTGTTCTCTTTACTG -3'
Posted On 2017-02-17