Incidental Mutation 'R0551:Sp110'
| ID |
212502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
038743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R0551 (G1)
|
| Quality Score |
31 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 85516821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000093508
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,598 (GRCm39) |
T456S |
probably benign |
Het |
| Acmsd |
A |
T |
1: 127,694,070 (GRCm39) |
K333N |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,944,658 (GRCm39) |
K241N |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,817,955 (GRCm39) |
I77V |
probably benign |
Het |
| Albfm1 |
C |
T |
5: 90,720,578 (GRCm39) |
P250S |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,276 (GRCm39) |
T521A |
probably benign |
Het |
| Arap2 |
C |
T |
5: 62,798,666 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
A |
T |
15: 83,227,338 (GRCm39) |
C25S |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,737,125 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,469,307 (GRCm39) |
E446G |
possibly damaging |
Het |
| Brwd1 |
C |
T |
16: 95,837,174 (GRCm39) |
R886H |
probably damaging |
Het |
| Carm1 |
G |
A |
9: 21,491,787 (GRCm39) |
|
probably null |
Het |
| Cdc5l |
G |
A |
17: 45,726,610 (GRCm39) |
R321W |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,860,984 (GRCm39) |
M841K |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,634,387 (GRCm39) |
T69S |
probably damaging |
Het |
| Cpox |
A |
G |
16: 58,495,753 (GRCm39) |
I357V |
probably benign |
Het |
| Diaph3 |
C |
A |
14: 87,147,536 (GRCm39) |
V711L |
probably benign |
Het |
| Fabp3-ps1 |
T |
C |
10: 86,567,904 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,651,905 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,818 (GRCm39) |
S488P |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,686,574 (GRCm39) |
|
probably null |
Het |
| Flt3l |
A |
G |
7: 44,781,690 (GRCm39) |
W234R |
probably damaging |
Het |
| Fzd7 |
G |
T |
1: 59,522,443 (GRCm39) |
V109L |
probably damaging |
Het |
| G3bp1 |
A |
G |
11: 55,379,969 (GRCm39) |
N101S |
probably benign |
Het |
| Gadd45g |
A |
G |
13: 52,001,963 (GRCm39) |
E143G |
probably damaging |
Het |
| Ganab |
T |
G |
19: 8,884,644 (GRCm39) |
I149S |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,906,750 (GRCm39) |
S413P |
probably damaging |
Het |
| Glis1 |
C |
T |
4: 107,425,316 (GRCm39) |
|
probably null |
Het |
| Gm11563 |
A |
G |
11: 99,549,539 (GRCm39) |
S72P |
unknown |
Het |
| Gpd1 |
T |
G |
15: 99,618,510 (GRCm39) |
I188S |
possibly damaging |
Het |
| Gria2 |
A |
G |
3: 80,639,333 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
G |
T |
4: 123,082,848 (GRCm39) |
A65S |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,236,089 (GRCm39) |
T1364I |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 117,995,428 (GRCm39) |
*1065W |
probably null |
Het |
| Klkb1 |
A |
G |
8: 45,731,003 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,557,951 (GRCm39) |
D147G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Macroh2a2 |
A |
G |
10: 61,576,945 (GRCm39) |
S308P |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,223,734 (GRCm39) |
I207T |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,600,068 (GRCm39) |
S428T |
probably benign |
Het |
| Mfsd4a |
G |
A |
1: 131,969,657 (GRCm39) |
T348I |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,202 (GRCm39) |
M880V |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,977,684 (GRCm39) |
|
probably null |
Het |
| Nrdc |
T |
G |
4: 108,904,905 (GRCm39) |
I712S |
probably damaging |
Het |
| Nup210 |
G |
A |
6: 90,998,466 (GRCm39) |
R774C |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,998,688 (GRCm39) |
R1395* |
probably null |
Het |
| Or5b102 |
T |
A |
19: 13,041,658 (GRCm39) |
D294E |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,879,336 (GRCm39) |
Y964H |
probably damaging |
Het |
| Pgap6 |
C |
A |
17: 26,339,576 (GRCm39) |
Q605K |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,413,756 (GRCm39) |
T290A |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,671,306 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
T |
G |
7: 18,386,565 (GRCm39) |
|
probably null |
Het |
| Ptar1 |
C |
A |
19: 23,697,704 (GRCm39) |
N405K |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,660,233 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
T |
A |
5: 146,148,205 (GRCm39) |
N271I |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,832,740 (GRCm39) |
D1019G |
possibly damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,329,688 (GRCm39) |
|
probably benign |
Het |
| Slc49a3 |
A |
G |
5: 108,592,331 (GRCm39) |
|
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,333,877 (GRCm39) |
V238I |
probably damaging |
Het |
| Sntg1 |
C |
A |
1: 8,624,960 (GRCm39) |
V279L |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,300,260 (GRCm39) |
E567D |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,357,515 (GRCm39) |
V175A |
possibly damaging |
Het |
| Stk36 |
G |
A |
1: 74,655,780 (GRCm39) |
E428K |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,751,090 (GRCm39) |
I300F |
possibly damaging |
Het |
| Thy1 |
T |
C |
9: 43,958,645 (GRCm39) |
V129A |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,479,229 (GRCm39) |
M654K |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,470 (GRCm39) |
S167G |
probably benign |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tspan10 |
A |
G |
11: 120,335,244 (GRCm39) |
D118G |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,841 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,738,672 (GRCm39) |
Q4002* |
probably null |
Het |
| Tyro3 |
G |
A |
2: 119,647,385 (GRCm39) |
R834Q |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,943 (GRCm39) |
K139E |
probably benign |
Het |
| Vmn1r9 |
A |
T |
6: 57,048,524 (GRCm39) |
I200F |
probably benign |
Het |
|
| Other mutations in Sp110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-07-03 |
Incidental Mutation