Incidental Mutation 'R1747:Sp110'
| ID |
257012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
039779-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R1747 (G1)
|
| Quality Score |
66 |
|
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: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
T |
8: 13,608,814 (GRCm39) |
S117N |
probably damaging |
Het |
| Acat3 |
A |
G |
17: 13,143,695 (GRCm39) |
I349T |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,230,981 (GRCm39) |
N552S |
probably benign |
Het |
| Ak3 |
G |
T |
19: 29,000,261 (GRCm39) |
P217T |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,378,751 (GRCm39) |
D1000V |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,982 (GRCm39) |
M118T |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,208,304 (GRCm39) |
A105S |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,073,332 (GRCm39) |
E1368G |
probably damaging |
Het |
| Armc7 |
G |
A |
11: 115,379,583 (GRCm39) |
V94I |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,235,374 (GRCm39) |
T223N |
possibly damaging |
Het |
| Btbd8 |
T |
C |
5: 107,599,865 (GRCm39) |
S119P |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,597,907 (GRCm39) |
K1078E |
probably damaging |
Het |
| Cpne8 |
G |
A |
15: 90,469,118 (GRCm39) |
T158I |
probably benign |
Het |
| Csn1s2b |
T |
C |
5: 87,964,529 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,568 (GRCm39) |
I371V |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,725,675 (GRCm39) |
F710L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,310,773 (GRCm39) |
D126G |
probably damaging |
Het |
| Dnm3 |
G |
A |
1: 162,141,153 (GRCm39) |
R369C |
probably damaging |
Het |
| Dst |
A |
C |
1: 34,199,790 (GRCm39) |
Q86P |
probably damaging |
Het |
| Ern2 |
C |
A |
7: 121,773,042 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,773,043 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,628,217 (GRCm39) |
|
probably null |
Het |
| Glg1 |
G |
A |
8: 111,924,305 (GRCm39) |
R228C |
probably damaging |
Het |
| Gm4736 |
G |
A |
6: 132,092,633 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn2 |
G |
C |
2: 31,347,997 (GRCm39) |
G4881A |
probably benign |
Het |
| Htr2a |
T |
G |
14: 74,943,593 (GRCm39) |
F391C |
probably damaging |
Het |
| Htr5b |
A |
T |
1: 121,455,647 (GRCm39) |
V91E |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,454,922 (GRCm39) |
H101L |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,778 (GRCm39) |
H608L |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,322,966 (GRCm39) |
V1150A |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,932,007 (GRCm39) |
F3545S |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,941,489 (GRCm39) |
D822G |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,385,899 (GRCm39) |
S721N |
probably benign |
Het |
| Nog |
T |
A |
11: 89,192,408 (GRCm39) |
M147L |
probably benign |
Het |
| Npr1 |
C |
T |
3: 90,365,976 (GRCm39) |
C605Y |
possibly damaging |
Het |
| Or7e173 |
A |
C |
9: 19,938,613 (GRCm39) |
V207G |
probably benign |
Het |
| Or8k21 |
G |
A |
2: 86,145,211 (GRCm39) |
L140F |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 117,892,457 (GRCm39) |
S10G |
probably benign |
Het |
| Pla2g4c |
T |
C |
7: 13,071,655 (GRCm39) |
|
probably benign |
Het |
| Prdm14 |
C |
T |
1: 13,192,627 (GRCm39) |
V371I |
possibly damaging |
Het |
| Prom1 |
C |
T |
5: 44,164,373 (GRCm39) |
V703I |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
| Scnn1g |
A |
T |
7: 121,359,686 (GRCm39) |
I390F |
probably damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,638 (GRCm39) |
H264Y |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,302,887 (GRCm39) |
E661K |
possibly damaging |
Het |
| Skic2 |
G |
T |
17: 35,066,782 (GRCm39) |
P162H |
probably benign |
Het |
| Slc10a5 |
G |
T |
3: 10,400,451 (GRCm39) |
Q70K |
probably benign |
Het |
| Smg8 |
A |
G |
11: 86,976,129 (GRCm39) |
V484A |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,770,353 (GRCm39) |
S630T |
probably benign |
Het |
| Thyn1 |
A |
C |
9: 26,916,509 (GRCm39) |
Q98P |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,614,443 (GRCm39) |
R203G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,708,860 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,179 (GRCm39) |
S99L |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,605 (GRCm39) |
H380L |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,375 (GRCm39) |
C646S |
probably damaging |
Het |
| Wnt10b |
A |
G |
15: 98,672,214 (GRCm39) |
S168P |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,963,117 (GRCm39) |
M748T |
possibly damaging |
Het |
| Zfp804b |
C |
G |
5: 6,820,217 (GRCm39) |
E913Q |
probably benign |
Het |
| Zfp974 |
G |
T |
7: 27,610,506 (GRCm39) |
F406L |
possibly damaging |
Het |
| Zic4 |
G |
A |
9: 91,266,199 (GRCm39) |
C274Y |
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 |
|
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'- AGGCCATGCTCCTGAGTCATCTTG -3'
(R):5'- TGCTGAAGACTGACATTGCGTTCC -3'
Sequencing Primer
(F):5'- CCTGAGTCATCTTGCTTGTTAG -3'
(R):5'- ggaggaggaggaggaggag -3'
|
| Posted On |
2015-01-08 |
Incidental Mutation