Incidental Mutation 'R6027:Sp110'
| ID |
480085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
044199-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R6027 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85505039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 438
(S438G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000093508
AA Change: S438G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: S438G
| 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 |
probably benign
Transcript: ENSMUST00000178024
|
| SMART Domains |
Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,289,003 (GRCm39) |
V2299A |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,303,661 (GRCm39) |
D28G |
probably benign |
Het |
| Adamts6 |
G |
A |
13: 104,616,043 (GRCm39) |
G1035D |
probably damaging |
Het |
| Adamts7 |
A |
C |
9: 90,073,078 (GRCm39) |
Y755S |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,791,528 (GRCm39) |
T763A |
possibly damaging |
Het |
| Armc9 |
G |
C |
1: 86,172,389 (GRCm39) |
L105F |
probably damaging |
Het |
| Asah2 |
T |
C |
19: 32,022,351 (GRCm39) |
N228D |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Aspm |
T |
G |
1: 139,390,794 (GRCm39) |
V693G |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,965,771 (GRCm39) |
E1141G |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,563,860 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,453,739 (GRCm39) |
D3475N |
unknown |
Het |
| Dctn5 |
T |
C |
7: 121,732,564 (GRCm39) |
|
probably benign |
Het |
| Dhrs4 |
A |
G |
14: 55,723,580 (GRCm39) |
K18E |
probably benign |
Het |
| Eci2 |
A |
T |
13: 35,169,930 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,851,922 (GRCm39) |
F319L |
probably benign |
Het |
| Elane |
A |
T |
10: 79,722,852 (GRCm39) |
H86L |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,893 (GRCm39) |
Y197* |
probably null |
Het |
| Eno4 |
A |
G |
19: 58,935,262 (GRCm39) |
D158G |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,094,977 (GRCm39) |
T170S |
possibly damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,883,950 (GRCm39) |
D517G |
probably damaging |
Het |
| Fkbp3 |
G |
T |
12: 65,120,692 (GRCm39) |
A2E |
possibly damaging |
Het |
| Gan |
A |
G |
8: 117,885,034 (GRCm39) |
Y54C |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,293,531 (GRCm39) |
N194K |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,269,087 (GRCm39) |
T597A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,646 (GRCm39) |
S492P |
possibly damaging |
Het |
| Hmox1 |
C |
A |
8: 75,823,499 (GRCm39) |
H56N |
probably damaging |
Het |
| Kank3 |
C |
T |
17: 34,037,088 (GRCm39) |
P131S |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,410,797 (GRCm39) |
|
probably null |
Het |
| Kif1a |
A |
T |
1: 92,953,365 (GRCm39) |
M1274K |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,907,299 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
C |
T |
8: 85,823,381 (GRCm39) |
T905I |
probably damaging |
Het |
| Mmp15 |
C |
A |
8: 96,098,804 (GRCm39) |
H544N |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,208,259 (GRCm39) |
N1933K |
probably benign |
Het |
| Ndst4 |
G |
T |
3: 125,507,025 (GRCm39) |
A730S |
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,315,053 (GRCm39) |
Q238* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,965,563 (GRCm39) |
P1716S |
possibly damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,842 (GRCm39) |
V216A |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8k38 |
T |
G |
2: 86,488,148 (GRCm39) |
Y218S |
probably damaging |
Het |
| P2ry6 |
T |
G |
7: 100,587,715 (GRCm39) |
M215L |
probably benign |
Het |
| Parp4 |
G |
A |
14: 56,866,615 (GRCm39) |
E1060K |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,183,509 (GRCm39) |
I822V |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,827,638 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,866,272 (GRCm39) |
G528* |
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,101,762 (GRCm39) |
Q816L |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,220,613 (GRCm38) |
F442L |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,187 (GRCm39) |
Y68H |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,545,274 (GRCm39) |
W458R |
probably damaging |
Het |
| Ros1 |
G |
T |
10: 52,040,064 (GRCm39) |
T309N |
possibly damaging |
Het |
| Rps27a |
T |
C |
11: 29,497,808 (GRCm39) |
|
probably benign |
Het |
| Sarm1 |
T |
A |
11: 78,374,384 (GRCm39) |
M577L |
probably benign |
Het |
| Scin |
T |
C |
12: 40,127,515 (GRCm39) |
Y425C |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 103,997,336 (GRCm39) |
Y395F |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,571,291 (GRCm39) |
Y69* |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,953,761 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
A |
C |
5: 148,270,774 (GRCm39) |
I564S |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,356,179 (GRCm39) |
Y933N |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,581,399 (GRCm39) |
R114S |
probably damaging |
Het |
| Trim11 |
C |
T |
11: 58,869,289 (GRCm39) |
A75V |
possibly damaging |
Het |
| Tufm |
T |
A |
7: 126,086,920 (GRCm39) |
H68Q |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,993,503 (GRCm39) |
D194E |
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 |
|
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 |
|
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 |
|
|
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'- ACACTCAGAGGCTCAAAGGC -3'
(R):5'- GCCTTAGGCCTAAGTAAAGGGG -3'
Sequencing Primer
(F):5'- CTCAGAGGCTCAAAGGCAAAGTTC -3'
(R):5'- TAAAGGGGAGAGTTACCTTATCAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation