Incidental Mutation 'R5080:Sp110'
ID 453358
Institutional Source Beutler Lab
Gene Symbol Sp110
Ensembl Gene ENSMUSG00000070034
Gene Name Sp110 nuclear body protein
Synonyms Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa
MMRRC Submission 042669-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R5080 (G1)
Quality Score 28.1
Status Validated
Chromosome 1
Chromosomal Location 85504620-85526538 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 85523776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 18 (Y18*)
Ref Sequence ENSEMBL: ENSMUSP00000091226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080204] [ENSMUST00000093508] [ENSMUST00000113385]
AlphaFold Q8BVK9
PDB Structure Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]
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 null
Transcript: ENSMUST00000093508
AA Change: Y18*
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: Y18*

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 probably benign
Transcript: ENSMUST00000113385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162784
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,286,744 (GRCm39) G16S possibly damaging Het
Adcy4 A T 14: 56,009,832 (GRCm39) M740K probably damaging Het
Atp1a2 T C 1: 172,112,012 (GRCm39) probably benign Het
Atrn T A 2: 130,812,044 (GRCm39) I663N possibly damaging Het
Cacna2d1 T C 5: 16,567,394 (GRCm39) probably null Het
Carf C A 1: 60,189,772 (GRCm39) Q631K probably damaging Het
Ces1d T C 8: 93,908,175 (GRCm39) D306G probably benign Het
Corin T A 5: 72,511,194 (GRCm39) probably benign Het
Csf1r T C 18: 61,257,373 (GRCm39) F575L probably damaging Het
Dcaf6 T C 1: 165,247,690 (GRCm39) D181G probably damaging Het
Dnah11 C T 12: 118,162,565 (GRCm39) M1I probably null Het
Dnah7b C T 1: 46,221,540 (GRCm39) R1215* probably null Het
Dpp3 T A 19: 4,965,108 (GRCm39) D464V probably benign Het
Drosha C A 15: 12,842,229 (GRCm39) A344D probably benign Het
Fat3 G T 9: 15,910,634 (GRCm39) S1789R probably benign Het
Fhip2a A T 19: 57,361,713 (GRCm39) K134I probably damaging Het
Frg2f1 T C 4: 119,388,230 (GRCm39) T90A possibly damaging Het
Frrs1 T C 3: 116,696,585 (GRCm39) I544T probably benign Het
Gm20939 T C 17: 95,184,419 (GRCm39) C356R probably damaging Het
Ifi206 T A 1: 173,301,414 (GRCm39) I755F possibly damaging Het
Kntc1 T A 5: 123,900,649 (GRCm39) V249E possibly damaging Het
Lama5 A T 2: 179,848,993 (GRCm39) L230* probably null Het
Lce1e C T 3: 92,615,137 (GRCm39) C70Y unknown Het
Ltbp2 T C 12: 84,850,638 (GRCm39) N892S probably damaging Het
Mfsd4b5 T A 10: 39,846,570 (GRCm39) M337L probably damaging Het
Noxo1 T A 17: 24,918,331 (GRCm39) C164S probably damaging Het
Or2y1b G T 11: 49,208,914 (GRCm39) M180I probably benign Het
Or5j3 G A 2: 86,128,258 (GRCm39) V33M probably benign Het
Osbpl6 T C 2: 76,354,429 (GRCm39) S15P probably benign Het
Pcdh17 A G 14: 84,770,750 (GRCm39) Y1076C probably benign Het
Pik3c2a T A 7: 115,947,509 (GRCm39) H1391L probably damaging Het
Plcg2 A G 8: 118,316,742 (GRCm39) Y573C probably benign Het
Prpf3 T A 3: 95,741,109 (GRCm39) H600L probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rpl15-ps6 A G 15: 52,341,446 (GRCm39) noncoding transcript Het
Serpini1 T C 3: 75,523,967 (GRCm39) S192P probably damaging Het
Stard6 A T 18: 70,629,293 (GRCm39) I126F probably damaging Het
Strip2 T A 6: 29,945,592 (GRCm39) L660H probably damaging Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tns1 G T 1: 73,992,099 (GRCm39) P860T probably damaging Het
Togaram1 T C 12: 65,030,177 (GRCm39) S994P probably benign Het
Tomm34 G A 2: 163,912,816 (GRCm39) probably benign Het
Trank1 G A 9: 111,218,289 (GRCm39) E1890K probably damaging Het
Wasf3 C T 5: 146,397,907 (GRCm39) H225Y probably benign Het
Wdr37 A T 13: 8,897,710 (GRCm39) probably null Het
Zbtb7c A C 18: 76,270,413 (GRCm39) D167A probably benign Het
Zkscan4 A G 13: 21,665,498 (GRCm39) T158A probably benign 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
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
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'- ATCATGGTCAAGTTGGGCCTTC -3'
(R):5'- TTTGCTCTGTAGACAGCTAAGGG -3'

Sequencing Primer
(F):5'- CCATGTTCTAGAAACCCTGATGG -3'
(R):5'- GATGCTTGAAGACTAGGGTGTCTACC -3'
Posted On 2017-02-02