Incidental Mutation 'R5087:Sp110'
ID |
458144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp110
|
Ensembl Gene |
ENSMUSG00000070034 |
Gene Name |
Sp110 nuclear body protein |
Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
MMRRC Submission |
042676-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
R5087 (G1)
|
Quality Score |
40 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 85516839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 219
(E219D)
|
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 damaging
Transcript: ENSMUST00000093508
AA Change: E219D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091226 Gene: ENSMUSG00000070034 AA Change: E219D
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
G |
1: 9,631,851 (GRCm39) |
|
probably benign |
Het |
Anln |
T |
C |
9: 22,286,340 (GRCm39) |
T322A |
possibly damaging |
Het |
Best3 |
A |
T |
10: 116,844,907 (GRCm39) |
Y354F |
probably benign |
Het |
Cd44 |
C |
T |
2: 102,661,699 (GRCm39) |
V509I |
possibly damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,184,315 (GRCm39) |
N529S |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,378 (GRCm39) |
D614G |
possibly damaging |
Het |
Cpq |
T |
C |
15: 33,213,008 (GRCm39) |
I9T |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,419,936 (GRCm39) |
H265R |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,168,621 (GRCm39) |
M458K |
probably damaging |
Het |
Disc1 |
A |
C |
8: 125,858,899 (GRCm39) |
I454L |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,023 (GRCm39) |
E4G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eipr1 |
C |
A |
12: 28,878,855 (GRCm39) |
N136K |
probably benign |
Het |
Fut11 |
A |
G |
14: 20,746,229 (GRCm39) |
N357S |
probably damaging |
Het |
Gbp2b |
C |
T |
3: 142,304,015 (GRCm39) |
P37S |
probably damaging |
Het |
Ghr |
T |
G |
15: 3,349,622 (GRCm39) |
K519Q |
probably damaging |
Het |
Gipr |
C |
A |
7: 18,893,689 (GRCm39) |
C328F |
probably damaging |
Het |
Gm27013 |
A |
T |
6: 130,654,633 (GRCm39) |
N276K |
probably damaging |
Het |
Got2 |
C |
A |
8: 96,598,951 (GRCm39) |
K150N |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,744,033 (GRCm39) |
S189P |
possibly damaging |
Het |
H2-T5 |
C |
A |
17: 36,476,308 (GRCm39) |
G347* |
probably null |
Het |
Hells |
T |
C |
19: 38,932,189 (GRCm39) |
V153A |
probably benign |
Het |
Ighd |
G |
A |
12: 113,378,047 (GRCm39) |
|
probably benign |
Het |
Inhca |
C |
T |
9: 103,143,420 (GRCm39) |
V361M |
probably damaging |
Het |
Itga4 |
A |
C |
2: 79,145,973 (GRCm39) |
D725A |
possibly damaging |
Het |
Itgbl1 |
T |
A |
14: 124,204,151 (GRCm39) |
L414Q |
possibly damaging |
Het |
Kat2b-ps |
A |
G |
5: 93,539,585 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc1 |
A |
T |
9: 77,364,740 (GRCm39) |
S192T |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,274 (GRCm39) |
N6K |
probably benign |
Het |
Moxd2 |
A |
C |
6: 40,856,270 (GRCm39) |
L534W |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,146,235 (GRCm39) |
D1431V |
probably damaging |
Het |
Naa15 |
T |
A |
3: 51,364,706 (GRCm39) |
|
probably null |
Het |
Naa16 |
G |
A |
14: 79,614,855 (GRCm39) |
T215I |
possibly damaging |
Het |
Ntng1 |
A |
T |
3: 110,042,645 (GRCm39) |
Y60* |
probably null |
Het |
Or1e29 |
T |
C |
11: 73,668,084 (GRCm39) |
Y23C |
possibly damaging |
Het |
Or2g25 |
A |
T |
17: 37,970,612 (GRCm39) |
V204E |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,867,296 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
C |
A |
12: 82,041,713 (GRCm39) |
P2115Q |
probably damaging |
Het |
Pfkfb3 |
G |
A |
2: 11,488,825 (GRCm39) |
T313I |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,178,731 (GRCm39) |
N875S |
probably damaging |
Het |
Ptpn20 |
A |
T |
14: 33,336,398 (GRCm39) |
D79V |
possibly damaging |
Het |
Rabgap1l |
C |
A |
1: 160,549,809 (GRCm39) |
V266L |
probably damaging |
Het |
Reep6 |
A |
G |
10: 80,171,009 (GRCm39) |
D295G |
probably damaging |
Het |
Sass6 |
T |
C |
3: 116,403,947 (GRCm39) |
L195P |
probably damaging |
Het |
Slc25a27 |
A |
G |
17: 43,977,821 (GRCm39) |
S25P |
probably damaging |
Het |
Smok2b |
T |
A |
17: 13,454,011 (GRCm39) |
M57K |
probably benign |
Het |
Sspo |
T |
C |
6: 48,465,405 (GRCm39) |
V71A |
possibly damaging |
Het |
Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,527,500 (GRCm39) |
Y1252* |
probably null |
Het |
Syde2 |
T |
A |
3: 145,712,881 (GRCm39) |
D1006E |
probably damaging |
Het |
Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
Tmc5 |
G |
A |
7: 118,244,609 (GRCm39) |
A496T |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,566,704 (GRCm39) |
V28063A |
probably damaging |
Het |
Usp25 |
A |
C |
16: 76,874,007 (GRCm39) |
I528L |
probably benign |
Het |
Vmn1r58 |
C |
T |
7: 5,413,666 (GRCm39) |
S188N |
probably benign |
Het |
Wfikkn2 |
A |
T |
11: 94,129,173 (GRCm39) |
C323S |
probably damaging |
Het |
Zfy1 |
A |
C |
Y: 732,964 (GRCm39) |
S290A |
unknown |
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 |
|
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'- AAGCTATCCCAAGCAAGGTTG -3'
(R):5'- TGCCTTCCTTACTGGTTAGAATCA -3'
Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GGTTAGAATCACTGTTCTCTTTACTG -3'
|
Posted On |
2017-02-17 |