Incidental Mutation 'R5254:Sp110'
| ID |
512259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp110
|
| Ensembl Gene |
ENSMUSG00000070034 |
| Gene Name |
Sp110 nuclear body protein |
| Synonyms |
Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa |
| MMRRC Submission |
042825-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R5254 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85504620-85526538 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to C
at 85504923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093508]
[ENSMUST00000178024]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
| 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 |
unknown
Transcript: ENSMUST00000178024
AA Change: E109D
|
| SMART Domains |
Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
AA Change: E109D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186740
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (82/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,911,042 (GRCm39) |
C296* |
probably null |
Het |
| Adam11 |
T |
A |
11: 102,665,098 (GRCm39) |
Y413* |
probably null |
Het |
| Ankhd1 |
A |
G |
18: 36,789,768 (GRCm39) |
I907V |
probably benign |
Het |
| Arrdc5 |
A |
G |
17: 56,604,897 (GRCm39) |
I130T |
probably benign |
Het |
| Asic5 |
T |
A |
3: 81,928,294 (GRCm39) |
I419K |
probably damaging |
Het |
| Atp4a |
A |
T |
7: 30,414,955 (GRCm39) |
E248V |
probably damaging |
Het |
| Avil |
C |
A |
10: 126,847,630 (GRCm39) |
V154L |
probably benign |
Het |
| Bclaf1 |
T |
A |
10: 20,199,282 (GRCm39) |
H226Q |
possibly damaging |
Het |
| Cald1 |
A |
G |
6: 34,723,351 (GRCm39) |
|
probably benign |
Het |
| Cd200r4 |
A |
C |
16: 44,652,453 (GRCm39) |
D27A |
possibly damaging |
Het |
| Cdsn |
T |
A |
17: 35,863,099 (GRCm39) |
M1K |
probably null |
Het |
| Cfap46 |
T |
A |
7: 139,258,430 (GRCm39) |
H281L |
possibly damaging |
Het |
| Chaf1a |
T |
C |
17: 56,369,606 (GRCm39) |
F533L |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,768 (GRCm39) |
I5F |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 123,203,327 (GRCm39) |
R48W |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,993,350 (GRCm39) |
H373L |
unknown |
Het |
| Dcaf10 |
T |
A |
4: 45,370,415 (GRCm39) |
Y328N |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,217,012 (GRCm39) |
K1151* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,184,219 (GRCm39) |
D503G |
probably damaging |
Het |
| Epm2a |
C |
A |
10: 11,333,089 (GRCm39) |
D307E |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,249,230 (GRCm39) |
D73V |
probably damaging |
Het |
| Fam20b |
C |
T |
1: 156,533,310 (GRCm39) |
G102D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,172,001 (GRCm39) |
N2904S |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,312,500 (GRCm39) |
Q147L |
possibly damaging |
Het |
| Fndc11 |
A |
G |
2: 180,863,956 (GRCm39) |
T254A |
possibly damaging |
Het |
| Galnt15 |
C |
T |
14: 31,780,244 (GRCm39) |
R514* |
probably null |
Het |
| Gbgt1 |
A |
G |
2: 28,395,220 (GRCm39) |
D286G |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,415,032 (GRCm39) |
|
probably null |
Het |
| Gm26526 |
A |
T |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| H2-K2 |
T |
C |
17: 34,216,436 (GRCm39) |
T237A |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,067 (GRCm39) |
S1010T |
probably damaging |
Het |
| Il21 |
T |
C |
3: 37,281,884 (GRCm39) |
T87A |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,268,600 (GRCm39) |
R2010C |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,519,592 (GRCm39) |
P2173S |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,754,803 (GRCm39) |
S512T |
unknown |
Het |
| Krtap16-1 |
G |
A |
11: 99,876,424 (GRCm39) |
R327* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,063,711 (GRCm39) |
I745N |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,956,855 (GRCm39) |
N372I |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,857,655 (GRCm39) |
E2481D |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,095,027 (GRCm39) |
|
probably benign |
Het |
| Mbip |
A |
G |
12: 56,384,228 (GRCm39) |
V215A |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,814 (GRCm39) |
V398D |
probably benign |
Het |
| Mog |
T |
G |
17: 37,323,264 (GRCm39) |
I225L |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,184 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5b |
C |
T |
7: 141,418,277 (GRCm39) |
S3741L |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,037,402 (GRCm39) |
I202F |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,833,677 (GRCm39) |
I818F |
possibly damaging |
Het |
| Nfia |
T |
A |
4: 97,902,534 (GRCm39) |
M262K |
probably damaging |
Het |
| Nisch |
C |
T |
14: 30,928,524 (GRCm39) |
|
probably null |
Het |
| Nkd1 |
A |
G |
8: 89,315,822 (GRCm39) |
D64G |
probably damaging |
Het |
| Nt5c2 |
T |
A |
19: 46,881,999 (GRCm39) |
K284* |
probably null |
Het |
| Or14a259 |
A |
T |
7: 86,013,398 (GRCm39) |
V49E |
possibly damaging |
Het |
| Or4k15b |
C |
A |
14: 50,272,135 (GRCm39) |
A242S |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,236 (GRCm39) |
I255N |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,252,996 (GRCm39) |
I45R |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,612 (GRCm39) |
S138P |
probably damaging |
Het |
| Or5j3 |
A |
T |
2: 86,128,265 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or8g55 |
A |
T |
9: 39,784,741 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,484 (GRCm39) |
S93T |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,878 (GRCm39) |
D556V |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,673 (GRCm39) |
D243V |
probably benign |
Het |
| Polq |
A |
T |
16: 36,909,681 (GRCm39) |
Q2355L |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc5a4a |
C |
A |
10: 76,018,572 (GRCm39) |
Y506* |
probably null |
Het |
| Tarbp1 |
G |
A |
8: 127,193,895 (GRCm39) |
H336Y |
probably damaging |
Het |
| Tas2r134 |
T |
G |
2: 51,517,559 (GRCm39) |
F13V |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,436,680 (GRCm39) |
Y98H |
probably damaging |
Het |
| Tmprss11a |
C |
A |
5: 86,559,665 (GRCm39) |
V376L |
probably damaging |
Het |
| Tmprss11f |
T |
A |
5: 86,685,892 (GRCm39) |
K158N |
probably benign |
Het |
| Tnip2 |
G |
T |
5: 34,660,922 (GRCm39) |
Q177K |
probably damaging |
Het |
| Trp53inp1 |
T |
A |
4: 11,165,075 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
C |
T |
5: 111,419,104 (GRCm39) |
P1398S |
probably benign |
Het |
| Umodl1 |
T |
G |
17: 31,199,333 (GRCm39) |
I308S |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,839,719 (GRCm39) |
S1942T |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,283,339 (GRCm39) |
N344K |
probably benign |
Het |
| Vmn2r25 |
C |
G |
6: 123,802,277 (GRCm39) |
C542S |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,597,470 (GRCm39) |
|
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,239,803 (GRCm39) |
Y343C |
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 |
|
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 |
|
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'- ATCGTGAGCGTGTACCACAG -3'
(R):5'- ATACAGGTGTTTCCTAAAGGGG -3'
Sequencing Primer
(F):5'- TGTACCACAGTGCTGGGTCAG -3'
(R):5'- ACTCCCAGAATAATCTCACTTGTC -3'
|
| Posted On |
2018-04-12 |
Incidental Mutation