Incidental Mutation 'R5387:Sp110'
| ID |
482199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
042959-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R5387 (G1)
|
| Quality Score |
21 |
|
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,408,092 (GRCm39) |
S140T |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
| Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
| Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
| Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
| Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
| Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
| Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,556 (GRCm39) |
I1021T |
probably benign |
Het |
| Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
| H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
| H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
| Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
| Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
| Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
| Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
| Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
| Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
| Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
| Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
| Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
| Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
| Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
| Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
| Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
| Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,314,771 (GRCm39) |
|
probably null |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
| Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
| Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
| Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
| Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
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 |
|
|
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'- AGCTATCCCAAGCAAGGTTG -3'
(R):5'- GCCTTCCTTACTGGTTAGAATCA -3'
Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GGTTAGAATCACTGTTCTCTTTACTG -3'
|
| Posted On |
2017-07-11 |
Incidental Mutation