Incidental Mutation 'R5443:Sp110'
ID |
482210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp110
|
Ensembl Gene |
ENSMUSG00000070034 |
Gene Name |
Sp110 nuclear body protein |
Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
MMRRC Submission |
043008-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
R5443 (G1)
|
Quality Score |
29.1 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85516841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 219
(E219K)
|
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 |
possibly damaging
Transcript: ENSMUST00000093508
AA Change: E219K
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091226 Gene: ENSMUSG00000070034 AA Change: E219K
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.9%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
A |
T |
10: 4,305,576 (GRCm39) |
E795D |
probably damaging |
Het |
Aldh6a1 |
T |
C |
12: 84,484,745 (GRCm39) |
|
probably null |
Het |
Aox4 |
A |
G |
1: 58,273,151 (GRCm39) |
|
probably null |
Het |
Arhgap39 |
G |
A |
15: 76,682,125 (GRCm39) |
|
probably benign |
Het |
AW551984 |
T |
C |
9: 39,509,325 (GRCm39) |
E272G |
possibly damaging |
Het |
C1qc |
G |
A |
4: 136,619,804 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
C |
A |
16: 8,482,203 (GRCm39) |
R26L |
probably benign |
Het |
Cdh12 |
G |
T |
15: 21,237,935 (GRCm39) |
V57L |
probably benign |
Het |
Cfap298 |
G |
T |
16: 90,724,099 (GRCm39) |
Q168K |
probably benign |
Het |
Clec3a |
A |
G |
8: 115,144,893 (GRCm39) |
Y23C |
probably benign |
Het |
Crebrf |
G |
C |
17: 26,961,328 (GRCm39) |
V150L |
probably damaging |
Het |
Ddx41 |
G |
T |
13: 55,683,104 (GRCm39) |
A201E |
probably benign |
Het |
Doc2b |
T |
C |
11: 75,670,921 (GRCm39) |
K237E |
probably damaging |
Het |
Dst |
T |
C |
1: 34,267,620 (GRCm39) |
S5199P |
probably damaging |
Het |
Efnb2 |
A |
G |
8: 8,670,862 (GRCm39) |
I129T |
probably damaging |
Het |
Epg5 |
A |
G |
18: 78,070,712 (GRCm39) |
E2329G |
possibly damaging |
Het |
Esrrg |
A |
C |
1: 187,775,622 (GRCm39) |
T27P |
possibly damaging |
Het |
Fah |
T |
A |
7: 84,241,604 (GRCm39) |
R316W |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,064,519 (GRCm39) |
L4825P |
probably damaging |
Het |
Gabbr1 |
T |
C |
17: 37,381,648 (GRCm39) |
V804A |
probably damaging |
Het |
Gm1322 |
G |
A |
2: 67,015,012 (GRCm39) |
|
noncoding transcript |
Het |
Gm5114 |
T |
A |
7: 39,058,289 (GRCm39) |
K443N |
probably benign |
Het |
Gnai2 |
T |
C |
9: 107,497,386 (GRCm39) |
I3V |
probably damaging |
Het |
Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
Klf15 |
C |
A |
6: 90,444,342 (GRCm39) |
Q306K |
possibly damaging |
Het |
Ly6a2 |
A |
T |
15: 75,005,568 (GRCm39) |
|
noncoding transcript |
Het |
Maco1 |
A |
T |
4: 134,560,619 (GRCm39) |
C121* |
probably null |
Het |
Necab2 |
A |
T |
8: 120,195,032 (GRCm39) |
M295L |
probably benign |
Het |
Nrg1 |
A |
T |
8: 32,339,348 (GRCm39) |
Y208N |
probably damaging |
Het |
Nup88 |
A |
T |
11: 70,849,256 (GRCm39) |
Y232* |
probably null |
Het |
Oacyl |
A |
G |
18: 65,883,253 (GRCm39) |
R611G |
probably benign |
Het |
Oasl1 |
T |
C |
5: 115,074,129 (GRCm39) |
|
probably null |
Het |
Or2n1e |
T |
A |
17: 38,585,905 (GRCm39) |
M81K |
probably damaging |
Het |
Or2y14 |
G |
T |
11: 49,405,262 (GRCm39) |
G266C |
probably damaging |
Het |
Or52h7 |
T |
C |
7: 104,213,583 (GRCm39) |
Y52H |
probably benign |
Het |
Or8k25 |
A |
C |
2: 86,243,937 (GRCm39) |
I153R |
possibly damaging |
Het |
Pate4 |
A |
C |
9: 35,519,170 (GRCm39) |
S66A |
possibly damaging |
Het |
Pigl |
T |
A |
11: 62,349,309 (GRCm39) |
C8* |
probably null |
Het |
Plg |
G |
A |
17: 12,601,070 (GRCm39) |
A51T |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppig |
A |
T |
2: 69,564,635 (GRCm39) |
D97V |
probably damaging |
Het |
Ppp1r16a |
A |
G |
15: 76,578,846 (GRCm39) |
K517E |
possibly damaging |
Het |
Prr16 |
A |
T |
18: 51,436,225 (GRCm39) |
S235C |
probably damaging |
Het |
Psmd1 |
G |
A |
1: 86,017,905 (GRCm39) |
R572H |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,977,135 (GRCm39) |
|
probably benign |
Het |
Scrt2 |
A |
T |
2: 151,924,043 (GRCm39) |
Y25F |
probably benign |
Het |
Sema6d |
A |
T |
2: 124,498,756 (GRCm39) |
H222L |
probably damaging |
Het |
Septin2 |
A |
G |
1: 93,425,174 (GRCm39) |
N110S |
possibly damaging |
Het |
Shpk |
G |
A |
11: 73,113,607 (GRCm39) |
G340D |
possibly damaging |
Het |
Smg5 |
T |
A |
3: 88,261,896 (GRCm39) |
L723H |
probably damaging |
Het |
Spo11 |
T |
C |
2: 172,831,152 (GRCm39) |
|
probably benign |
Het |
Srarp |
T |
A |
4: 141,163,388 (GRCm39) |
|
probably null |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Tm9sf2 |
A |
T |
14: 122,363,607 (GRCm39) |
Y109F |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,809,209 (GRCm39) |
M699K |
possibly damaging |
Het |
Trim34a |
T |
C |
7: 103,909,420 (GRCm39) |
F289S |
possibly damaging |
Het |
Trim39 |
T |
C |
17: 36,571,645 (GRCm39) |
H371R |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,348,532 (GRCm39) |
I11N |
possibly damaging |
Het |
Zbtb10 |
T |
C |
3: 9,345,108 (GRCm39) |
F677L |
probably benign |
Het |
Zer1 |
C |
T |
2: 30,001,008 (GRCm39) |
G138S |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,816,227 (GRCm39) |
K439R |
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 |
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'- AGCTATCCCAAGCAAGGTTG -3'
(R):5'- CTGCCTTCCTTACTGGTTAGAA -3'
Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GCCTTCCTTACTGGTTAGAATCACTG -3'
|
Posted On |
2017-07-11 |