Incidental Mutation 'R1744:Sp110'
| ID |
258016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
039776-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R1744 (G1)
|
| Quality Score |
21 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 85522093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 70
(T70S)
|
| 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: T70S
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: T70S
| 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 |
0.1553 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
| Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
| Cd163 |
C |
A |
6: 124,283,987 (GRCm39) |
A53E |
possibly damaging |
Het |
| Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,957,631 (GRCm39) |
S463R |
probably benign |
Het |
| Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
| Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
| Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
| Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
| Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,019,911 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
| Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
| Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
| Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 66,996,361 (GRCm39) |
Y1242C |
probably damaging |
Het |
| Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
| Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
| Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
| Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,700,718 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
| Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-01-14 |
Incidental Mutation