Incidental Mutation 'R7598:Sp110'
| ID |
587819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
045641-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R7598 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85506813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 417
(R417C)
|
| 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
AA Change: R417C
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: R417C
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,480,370 (GRCm39) |
S234G |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,370,077 (GRCm39) |
N176K |
possibly damaging |
Het |
| AI661453 |
T |
C |
17: 47,777,045 (GRCm39) |
V257A |
unknown |
Het |
| Alpk2 |
T |
A |
18: 65,437,637 (GRCm39) |
K1252M |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,445 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,576,308 (GRCm39) |
N447S |
probably benign |
Het |
| Apoc4 |
A |
G |
7: 19,415,265 (GRCm39) |
V14A |
probably benign |
Het |
| Arfgef2 |
A |
C |
2: 166,698,444 (GRCm39) |
Q638P |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,761,090 (GRCm39) |
F980L |
possibly damaging |
Het |
| Arhgap27 |
G |
A |
11: 103,224,879 (GRCm39) |
R459* |
probably null |
Het |
| Arhgef15 |
A |
T |
11: 68,837,236 (GRCm39) |
L785Q |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,500 (GRCm39) |
F249L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,278 (GRCm39) |
E233G |
possibly damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,349,006 (GRCm39) |
Q279K |
probably benign |
Het |
| Cilp2 |
A |
G |
8: 70,338,682 (GRCm39) |
C134R |
probably benign |
Het |
| Clec4b1 |
G |
A |
6: 123,048,427 (GRCm39) |
W187* |
probably null |
Het |
| Ddx11 |
G |
A |
17: 66,437,541 (GRCm39) |
|
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,279 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,921,435 (GRCm39) |
H1387Q |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,235 (GRCm39) |
N148S |
probably damaging |
Het |
| Hs6st3 |
T |
A |
14: 120,106,750 (GRCm39) |
V386E |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,639,334 (GRCm39) |
R413Q |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,369,965 (GRCm39) |
N5S |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,275,878 (GRCm39) |
L155* |
probably null |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lzts2 |
G |
T |
19: 45,012,272 (GRCm39) |
G234* |
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,412 (GRCm39) |
F503L |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,389,735 (GRCm39) |
I463L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,999 (GRCm39) |
T1982A |
unknown |
Het |
| Myo18a |
A |
T |
11: 77,738,172 (GRCm39) |
T1705S |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,372,977 (GRCm39) |
S1090G |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,358 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,234 (GRCm39) |
C127F |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,833 (GRCm39) |
F323S |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,966,767 (GRCm39) |
T561S |
probably damaging |
Het |
| Phip |
A |
C |
9: 82,787,711 (GRCm39) |
S817R |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,941 (GRCm39) |
M40L |
unknown |
Het |
| Pip4k2a |
T |
A |
2: 18,877,098 (GRCm39) |
L212F |
possibly damaging |
Het |
| Proc |
T |
A |
18: 32,268,929 (GRCm39) |
I19L |
probably benign |
Het |
| Rbm4 |
T |
C |
19: 4,842,539 (GRCm39) |
E100G |
possibly damaging |
Het |
| Rhobtb3 |
T |
C |
13: 76,059,021 (GRCm39) |
Y259C |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,124,884 (GRCm39) |
D168G |
probably null |
Het |
| Sdk1 |
T |
G |
5: 141,595,753 (GRCm39) |
Y136* |
probably null |
Het |
| Slk |
G |
A |
19: 47,624,901 (GRCm39) |
E1041K |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,454,973 (GRCm39) |
R378* |
probably null |
Het |
| Spag16 |
T |
C |
1: 69,909,467 (GRCm39) |
F188S |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,838 (GRCm39) |
C198R |
probably damaging |
Het |
| Tor1a |
A |
C |
2: 30,857,796 (GRCm39) |
I24S |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,263,569 (GRCm39) |
T1598K |
probably benign |
Het |
| Uncx |
G |
A |
5: 139,529,809 (GRCm39) |
V21M |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,803,342 (GRCm39) |
F53I |
possibly damaging |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Zfp654 |
T |
A |
16: 64,606,297 (GRCm39) |
E94V |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,840 (GRCm39) |
L64P |
probably benign |
Het |
| Zfyve28 |
A |
C |
5: 34,393,461 (GRCm39) |
N68K |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2019-10-24 |
Incidental Mutation