Incidental Mutation 'R5752:Sp110'
ID |
501909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp110
|
Ensembl Gene |
ENSMUSG00000070034 |
Gene Name |
Sp110 nuclear body protein |
Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
MMRRC Submission |
043357-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
R5752 (G1)
|
Quality Score |
23 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
G to C
at 85504923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 |
unknown
Transcript: ENSMUST00000178024
AA Change: E109D
|
SMART Domains |
Protein: ENSMUSP00000136816 Gene: ENSMUSG00000094127 AA Change: E109D
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
C |
A |
17: 47,200,966 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
C |
A |
10: 83,356,244 (GRCm39) |
G49C |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,419,725 (GRCm39) |
E11K |
probably damaging |
Het |
Asns |
C |
T |
6: 7,689,365 (GRCm39) |
G46S |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,748,464 (GRCm39) |
|
probably benign |
Het |
Cep126 |
A |
C |
9: 8,120,746 (GRCm39) |
Y92* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,639,204 (GRCm39) |
T567A |
probably damaging |
Het |
Clgn |
T |
A |
8: 84,123,670 (GRCm39) |
Y61N |
probably damaging |
Het |
Col28a1 |
T |
G |
6: 8,015,025 (GRCm39) |
K793N |
possibly damaging |
Het |
Cxcl9 |
C |
A |
5: 92,471,715 (GRCm39) |
M108I |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,850,306 (GRCm39) |
I318F |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,993,320 (GRCm39) |
M363T |
unknown |
Het |
Dnajc13 |
A |
C |
9: 104,069,973 (GRCm39) |
|
probably null |
Het |
Entpd2 |
G |
A |
2: 25,289,781 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,526,053 (GRCm39) |
N205K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,180,063 (GRCm39) |
F1426Y |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,602,007 (GRCm39) |
F267I |
probably damaging |
Het |
Gm1322 |
G |
A |
2: 67,014,979 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl3 |
A |
C |
7: 81,549,451 (GRCm39) |
S143A |
possibly damaging |
Het |
Ints7 |
T |
A |
1: 191,308,005 (GRCm39) |
D12E |
probably benign |
Het |
Kank3 |
A |
G |
17: 34,037,037 (GRCm39) |
T114A |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,185,624 (GRCm39) |
Y1364H |
probably damaging |
Het |
Mef2b |
A |
G |
8: 70,618,267 (GRCm39) |
T116A |
possibly damaging |
Het |
Megf8 |
C |
T |
7: 25,054,539 (GRCm39) |
T1885I |
probably damaging |
Het |
Mrps11 |
A |
G |
7: 78,433,343 (GRCm39) |
K30E |
probably benign |
Het |
Naca |
T |
A |
10: 127,877,797 (GRCm39) |
|
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,349 (GRCm39) |
|
noncoding transcript |
Het |
Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
Or2at1 |
T |
C |
7: 99,417,155 (GRCm39) |
I262T |
probably benign |
Het |
Paip2b |
C |
T |
6: 83,808,252 (GRCm39) |
|
probably null |
Het |
Plcb2 |
G |
T |
2: 118,541,532 (GRCm39) |
|
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,587,131 (GRCm39) |
|
probably null |
Het |
Pnpla8 |
A |
G |
12: 44,329,670 (GRCm39) |
N74S |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,994,834 (GRCm39) |
I276N |
probably damaging |
Het |
Qprt |
C |
T |
7: 126,708,416 (GRCm39) |
G5D |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,614 (GRCm39) |
N154S |
probably damaging |
Het |
Rin3 |
G |
A |
12: 102,279,378 (GRCm39) |
|
probably benign |
Het |
Sdf4 |
C |
T |
4: 156,080,761 (GRCm39) |
P37S |
probably damaging |
Het |
Selp |
A |
T |
1: 163,964,811 (GRCm39) |
D491V |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,824,696 (GRCm39) |
|
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,891,016 (GRCm39) |
Y268C |
probably damaging |
Het |
Tas2r134 |
A |
G |
2: 51,517,880 (GRCm39) |
R120G |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,673 (GRCm39) |
R509G |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,314,753 (GRCm39) |
Y231N |
probably damaging |
Het |
Top6bl |
C |
A |
19: 4,676,048 (GRCm39) |
A695S |
probably benign |
Het |
Ttc41 |
C |
T |
10: 86,594,210 (GRCm39) |
T881I |
probably benign |
Het |
Ttll8 |
T |
C |
15: 88,816,931 (GRCm39) |
Y271C |
probably benign |
Het |
Ttn |
A |
T |
2: 76,778,328 (GRCm39) |
I1307K |
possibly damaging |
Het |
Ube2k |
A |
G |
5: 65,723,411 (GRCm39) |
D48G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,069 (GRCm39) |
T3126A |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,875,540 (GRCm39) |
T1656A |
probably benign |
Het |
Zzz3 |
C |
A |
3: 152,157,759 (GRCm39) |
S777R |
possibly damaging |
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 |
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 |
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'- ATCGTGAGCGTGTACCACAG -3'
(R):5'- ATACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- ACTCCCAGAATAATCTCACTTGTC -3'
|
Posted On |
2017-12-11 |