Incidental Mutation 'R4922:Sp110'
| ID |
434627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
042524-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R4922 (G1)
|
| Quality Score |
22 |
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (76/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,901,645 (GRCm39) |
C423F |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,750,220 (GRCm39) |
Y722* |
probably null |
Het |
| Albfm1 |
A |
G |
5: 90,727,570 (GRCm39) |
H396R |
possibly damaging |
Het |
| Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,467,934 (GRCm39) |
R1755S |
probably damaging |
Het |
| Atf7ip |
A |
T |
6: 136,537,039 (GRCm39) |
T91S |
possibly damaging |
Het |
| Bcl2 |
C |
A |
1: 106,640,376 (GRCm39) |
A79S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,314 (GRCm39) |
I2564K |
probably damaging |
Het |
| Bmerb1 |
A |
G |
16: 13,804,683 (GRCm39) |
H10R |
possibly damaging |
Het |
| Bmp10 |
C |
T |
6: 87,410,557 (GRCm39) |
P117S |
probably benign |
Het |
| Bmpr2 |
A |
G |
1: 59,906,583 (GRCm39) |
T559A |
probably benign |
Het |
| Cd200r1 |
A |
T |
16: 44,610,039 (GRCm39) |
Y86F |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,596,308 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,394,116 (GRCm39) |
V335A |
probably benign |
Het |
| Cfap52 |
A |
G |
11: 67,822,548 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,514,712 (GRCm39) |
H60R |
possibly damaging |
Het |
| Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,336,441 (GRCm39) |
Y201C |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,258,719 (GRCm39) |
V370A |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,351,538 (GRCm39) |
I353T |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,230,667 (GRCm39) |
V470E |
probably benign |
Het |
| Cyp4a10 |
C |
A |
4: 115,378,291 (GRCm39) |
Q126K |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,013,652 (GRCm39) |
S249P |
probably damaging |
Het |
| Dnase2a |
A |
G |
8: 85,635,625 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
T |
C |
1: 123,305,882 (GRCm39) |
N490S |
probably benign |
Het |
| Drgx |
A |
T |
14: 32,330,363 (GRCm39) |
N160I |
probably damaging |
Het |
| Enc1 |
C |
T |
13: 97,382,243 (GRCm39) |
A251V |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,562,434 (GRCm39) |
V1258A |
probably benign |
Het |
| Fancm |
G |
A |
12: 65,153,666 (GRCm39) |
|
probably null |
Het |
| Fbxo16 |
C |
T |
14: 65,536,657 (GRCm39) |
T177I |
probably benign |
Het |
| Gm1965 |
T |
C |
6: 89,123,525 (GRCm39) |
|
noncoding transcript |
Het |
| Hal |
A |
T |
10: 93,339,401 (GRCm39) |
M497L |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,497,378 (GRCm39) |
L3936S |
possibly damaging |
Het |
| Hs3st4 |
G |
T |
7: 123,996,410 (GRCm39) |
G359W |
probably damaging |
Het |
| Il6st |
C |
T |
13: 112,639,399 (GRCm39) |
P608L |
probably damaging |
Het |
| Kctd18 |
A |
C |
1: 58,004,707 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,940,309 (GRCm39) |
S1636T |
probably damaging |
Het |
| Lrrn1 |
A |
T |
6: 107,545,311 (GRCm39) |
S370C |
probably damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,655,474 (GRCm39) |
C968G |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,562,238 (GRCm39) |
A347T |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,252 (GRCm39) |
|
noncoding transcript |
Het |
| Neu4 |
T |
A |
1: 93,950,200 (GRCm39) |
V53E |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,680,687 (GRCm39) |
I302V |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,576 (GRCm39) |
C100S |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,112,811 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Otos |
T |
C |
1: 92,572,090 (GRCm39) |
T79A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,122,009 (GRCm39) |
I578T |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
| Prex2 |
C |
T |
1: 11,240,164 (GRCm39) |
P927S |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,100,116 (GRCm39) |
K1873N |
probably benign |
Het |
| Ptk7 |
C |
A |
17: 46,887,417 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,200,585 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,151,749 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
T |
A |
11: 44,448,063 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,724,849 (GRCm39) |
E2488G |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,379,664 (GRCm39) |
M1056K |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,245 (GRCm39) |
V635A |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,763 (GRCm39) |
Y101N |
probably benign |
Het |
| Sorl1 |
C |
A |
9: 41,925,746 (GRCm39) |
|
probably null |
Het |
| Speer4a2 |
A |
T |
5: 26,289,791 (GRCm39) |
I212N |
probably damaging |
Het |
| Tmem30b |
G |
A |
12: 73,592,488 (GRCm39) |
P209L |
probably damaging |
Het |
| Trbv12-2 |
G |
T |
6: 41,096,081 (GRCm39) |
C52F |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,819,343 (GRCm39) |
D1304V |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,214,183 (GRCm39) |
Y487C |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,090,811 (GRCm39) |
N134K |
probably damaging |
Het |
| Wdr27 |
C |
A |
17: 15,141,016 (GRCm39) |
|
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,855,638 (GRCm39) |
F430L |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,211,299 (GRCm39) |
I170T |
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 |
|
|
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'- AGCTATCCCAAGCAAGGTTG -3'
(R):5'- GCCTTCCTTACTGGTTAGAATCA -3'
Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GGTTAGAATCACTGTTCTCTTTACTG -3'
|
| Posted On |
2016-10-13 |
Incidental Mutation