Incidental Mutation 'R1718:Sp110'
| ID |
261746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
039751-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R1718 (G1)
|
| Quality Score |
23 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85522106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 66
(H66Y)
|
| 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 benign
Transcript: ENSMUST00000093508
AA Change: H66Y
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: H66Y
| 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: ENSMUST00000130727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150114
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162784
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
T |
13: 77,393,489 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
T |
G |
12: 84,100,717 (GRCm39) |
|
probably null |
Het |
| Acox1 |
A |
T |
11: 116,065,508 (GRCm39) |
C523* |
probably null |
Het |
| Adamts19 |
G |
A |
18: 59,105,897 (GRCm39) |
C764Y |
probably damaging |
Het |
| Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
G |
12: 8,066,087 (GRCm39) |
K4319R |
probably benign |
Het |
| AU016765 |
A |
C |
17: 64,862,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bpifb1 |
T |
A |
2: 154,055,903 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
G |
13: 23,666,106 (GRCm39) |
V242A |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,481 (GRCm39) |
S1281P |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,959,772 (GRCm39) |
K306E |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,584,866 (GRCm39) |
V1350A |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,531,783 (GRCm39) |
L674* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,867 (GRCm39) |
V379A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 66,058,905 (GRCm39) |
H130L |
possibly damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,809 (GRCm39) |
Y318C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,702,748 (GRCm39) |
|
probably null |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,866,872 (GRCm39) |
S172T |
possibly damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,299 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
C |
T |
3: 108,057,696 (GRCm39) |
V322M |
possibly damaging |
Het |
| H2-T5 |
A |
G |
17: 36,472,676 (GRCm39) |
|
probably benign |
Het |
| Hapln3 |
A |
G |
7: 78,773,198 (GRCm39) |
V15A |
unknown |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,859,096 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,043,277 (GRCm39) |
K561E |
probably damaging |
Het |
| Map3k1 |
A |
G |
13: 111,891,953 (GRCm39) |
C1101R |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,896,229 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
G |
A |
12: 4,919,037 (GRCm39) |
T73I |
probably damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,199 (GRCm39) |
V19I |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,114,238 (GRCm39) |
D113E |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,223 (GRCm39) |
S2604P |
probably damaging |
Het |
| Mob3c |
A |
G |
4: 115,688,841 (GRCm39) |
I125V |
probably benign |
Het |
| Mrps9 |
G |
A |
1: 42,942,559 (GRCm39) |
R339H |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,875 (GRCm39) |
D269G |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,492,402 (GRCm39) |
N30S |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,795,737 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,149 (GRCm39) |
M118V |
probably benign |
Het |
| Or5t15 |
A |
T |
2: 86,681,531 (GRCm39) |
N170K |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,749 (GRCm39) |
V212I |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,890 (GRCm39) |
D6G |
probably benign |
Het |
| Papss1 |
C |
A |
3: 131,324,946 (GRCm39) |
R447S |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,747,274 (GRCm39) |
|
probably benign |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,081 (GRCm39) |
F266L |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,200 (GRCm39) |
Y554* |
probably null |
Het |
| Rem2 |
T |
C |
14: 54,716,607 (GRCm39) |
V240A |
probably damaging |
Het |
| Retsat |
T |
C |
6: 72,579,654 (GRCm39) |
V143A |
probably benign |
Het |
| Rnf141 |
G |
T |
7: 110,420,480 (GRCm39) |
Q175K |
probably damaging |
Het |
| Rtcb |
C |
A |
10: 85,777,881 (GRCm39) |
G431V |
probably damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,930,971 (GRCm39) |
W222R |
probably damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,304,867 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,755,828 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
| Speg |
A |
G |
1: 75,398,388 (GRCm39) |
Q1945R |
possibly damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,096 (GRCm39) |
V67A |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tnks1bp1 |
G |
T |
2: 84,902,082 (GRCm39) |
E997D |
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,850,144 (GRCm39) |
V365E |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,272,715 (GRCm39) |
I590V |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,121 (GRCm39) |
D847G |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,442 (GRCm39) |
T383A |
possibly damaging |
Het |
| Zik1 |
T |
A |
7: 10,226,268 (GRCm39) |
E33V |
probably damaging |
Het |
| Zik1 |
C |
A |
7: 10,226,269 (GRCm39) |
E33* |
probably null |
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 |
|
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 |
|
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'- GGCTTTTACTGTAGCACCACTGCAC -3'
(R):5'- GCAGACACTGGAAGAATTTTGCAGC -3'
Sequencing Primer
(F):5'- ACATGTGACAAGGATCTCGG -3'
(R):5'- gcctgtctcctgaatgctg -3'
|
| Posted On |
2015-01-29 |
Incidental Mutation