Incidental Mutation 'IGL00503:Sp110'
ID 332483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sp110
Ensembl Gene ENSMUSG00000070034
Gene Name Sp110 nuclear body protein
Synonyms Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # IGL00503
Quality Score
Status
Chromosome 1
Chromosomal Location 85504620-85526538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85505050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 434 (F434C)
Ref Sequence ENSEMBL: ENSMUSP00000091226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]
AlphaFold Q8BVK9
PDB Structure Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000093508
AA Change: F434C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: F434C

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 probably benign
Transcript: ENSMUST00000178024
SMART Domains Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127

DomainStartEndE-ValueType
low complexity region 1 10 N/A INTRINSIC
low complexity region 82 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186740
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Sp110
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-08-05