Incidental Mutation 'R5389:Sp110'
ID |
478140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp110
|
Ensembl Gene |
ENSMUSG00000070034 |
Gene Name |
Sp110 nuclear body protein |
Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
MMRRC Submission |
042961-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.572)
|
Stock # |
R5389 (G1)
|
Quality Score |
46 |
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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,638,795 (GRCm39) |
V398A |
probably benign |
Het |
A430033K04Rik |
T |
A |
5: 138,644,559 (GRCm39) |
V148E |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,485,536 (GRCm39) |
Q1446L |
possibly damaging |
Het |
Anks6 |
A |
T |
4: 47,038,900 (GRCm39) |
|
probably benign |
Het |
Arrb2 |
T |
C |
11: 70,329,484 (GRCm39) |
S265P |
probably damaging |
Het |
Baiap2 |
T |
C |
11: 119,887,496 (GRCm39) |
S264P |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,329,103 (GRCm39) |
V938A |
probably damaging |
Het |
Cavin4 |
G |
T |
4: 48,663,907 (GRCm39) |
V96F |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,965,149 (GRCm39) |
|
probably null |
Het |
Crocc2 |
C |
A |
1: 93,143,363 (GRCm39) |
Q1322K |
probably benign |
Het |
Cryzl2 |
T |
A |
1: 157,289,546 (GRCm39) |
C61* |
probably null |
Het |
Dazl |
T |
C |
17: 50,595,718 (GRCm39) |
I56V |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,456,904 (GRCm39) |
D890V |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,986,140 (GRCm39) |
E1165* |
probably null |
Het |
Dnmt3l |
T |
A |
10: 77,892,665 (GRCm39) |
|
probably null |
Het |
Elp2 |
A |
G |
18: 24,739,960 (GRCm39) |
N62S |
possibly damaging |
Het |
Entr1 |
T |
C |
2: 26,275,559 (GRCm39) |
D244G |
probably damaging |
Het |
Fam216b |
T |
A |
14: 78,322,503 (GRCm39) |
H26L |
possibly damaging |
Het |
Fbxw25 |
T |
A |
9: 109,481,954 (GRCm39) |
Q244L |
possibly damaging |
Het |
G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,197,442 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
T |
C |
17: 12,944,303 (GRCm39) |
Y400C |
probably damaging |
Het |
Iqcc |
A |
G |
4: 129,512,413 (GRCm39) |
F20L |
probably benign |
Het |
Klhl5 |
T |
A |
5: 65,298,625 (GRCm39) |
L135M |
possibly damaging |
Het |
Klk1b16 |
A |
T |
7: 43,790,412 (GRCm39) |
M196L |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,858,719 (GRCm39) |
M489T |
possibly damaging |
Het |
Mctp2 |
G |
T |
7: 71,863,835 (GRCm39) |
R343S |
possibly damaging |
Het |
Nbas |
T |
A |
12: 13,584,578 (GRCm39) |
|
probably null |
Het |
Ncr1 |
A |
T |
7: 4,343,932 (GRCm39) |
M177L |
probably benign |
Het |
Net1 |
C |
T |
13: 3,936,170 (GRCm39) |
E305K |
probably damaging |
Het |
Nfx1 |
T |
C |
4: 40,985,000 (GRCm39) |
F375L |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,358,163 (GRCm39) |
I1687L |
probably benign |
Het |
Obsl1 |
A |
T |
1: 75,479,905 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,352,290 (GRCm39) |
F102I |
probably damaging |
Het |
Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
Or51v14 |
G |
T |
7: 103,260,797 (GRCm39) |
Y254* |
probably null |
Het |
Or5g23 |
A |
G |
2: 85,438,627 (GRCm39) |
F209S |
probably benign |
Het |
Or5j3 |
G |
A |
2: 86,128,561 (GRCm39) |
V134M |
possibly damaging |
Het |
Or5p79 |
A |
C |
7: 108,221,924 (GRCm39) |
I302L |
probably damaging |
Het |
Orai1 |
A |
T |
5: 123,167,564 (GRCm39) |
M246L |
probably benign |
Het |
Pcdhga12 |
G |
A |
18: 37,899,785 (GRCm39) |
A206T |
probably damaging |
Het |
Plxdc2 |
C |
A |
2: 16,654,998 (GRCm39) |
T199K |
probably damaging |
Het |
Prkd1 |
T |
A |
12: 50,389,920 (GRCm39) |
I819F |
probably damaging |
Het |
Ptpn9 |
T |
C |
9: 56,964,121 (GRCm39) |
|
probably benign |
Het |
Rabl6 |
T |
C |
2: 25,478,666 (GRCm39) |
E255G |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,286,099 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,115,699 (GRCm39) |
M282V |
possibly damaging |
Het |
Slco1a7 |
A |
G |
6: 141,686,193 (GRCm39) |
F216L |
probably benign |
Het |
Slco2b1 |
A |
G |
7: 99,335,132 (GRCm39) |
I216T |
probably damaging |
Het |
Slco6b1 |
T |
C |
1: 96,916,309 (GRCm39) |
|
noncoding transcript |
Het |
Slco6d1 |
A |
T |
1: 98,371,369 (GRCm39) |
I285F |
probably benign |
Het |
Sp9 |
C |
A |
2: 73,104,641 (GRCm39) |
N398K |
probably damaging |
Het |
Sycp2 |
A |
C |
2: 178,019,495 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
T |
C |
16: 57,019,291 (GRCm39) |
D219G |
probably damaging |
Het |
Tdpoz3 |
A |
G |
3: 93,734,179 (GRCm39) |
R285G |
probably benign |
Het |
Trim2 |
T |
A |
3: 84,074,960 (GRCm39) |
Q694L |
probably null |
Het |
Trim23 |
T |
A |
13: 104,328,541 (GRCm39) |
V293D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,665,183 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,238,261 (GRCm39) |
Y493F |
probably benign |
Het |
Vps41 |
T |
A |
13: 19,046,708 (GRCm39) |
I753N |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Yme1l1 |
G |
A |
2: 23,083,246 (GRCm39) |
G571R |
probably damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,149 (GRCm39) |
C198S |
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 |
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'- CTGCCTTCCTTACTGGTTAGAA -3'
Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GCCTTCCTTACTGGTTAGAATCACTG -3'
|
Posted On |
2017-05-26 |