Incidental Mutation 'R0367:Sp140l2'
ID |
261852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp140l2
|
Ensembl Gene |
ENSMUSG00000052477 |
Gene Name |
Sp140 nuclear body protein like 2 |
Synonyms |
OTTMUSG00000029174, C130026I21Rik |
MMRRC Submission |
038573-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R0367 (G1)
|
Quality Score |
36 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
G to T
at 85247824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124435
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064341]
[ENSMUST00000093506]
[ENSMUST00000159582]
[ENSMUST00000161267]
|
AlphaFold |
Q8C898 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064341
|
SMART Domains |
Protein: ENSMUSP00000066587 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
23 |
125 |
2.8e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093506
|
SMART Domains |
Protein: ENSMUSP00000091224 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
24 |
122 |
1.1e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094774
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159582
|
SMART Domains |
Protein: ENSMUSP00000125160 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
23 |
125 |
6.1e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159849
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161267
|
SMART Domains |
Protein: ENSMUSP00000124435 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
23 |
119 |
1.8e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162652
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162923
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
A |
T |
2: 104,261,594 (GRCm39) |
C980* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
Limch1 |
G |
A |
5: 67,015,297 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
Pcare |
G |
T |
17: 72,057,471 (GRCm39) |
F735L |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,257,192 (GRCm39) |
|
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
probably damaging |
Het |
|
Other mutations in Sp140l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01866:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01876:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01880:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01883:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01886:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01888:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01893:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01898:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01906:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01908:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01909:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01916:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01918:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01920:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01923:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01928:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01933:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01945:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01949:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01951:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01952:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
PIT4131001:Sp140l2
|
UTSW |
1 |
85,223,395 (GRCm39) |
intron |
probably benign |
|
PIT4142001:Sp140l2
|
UTSW |
1 |
85,223,395 (GRCm39) |
intron |
probably benign |
|
R0067:Sp140l2
|
UTSW |
1 |
85,247,773 (GRCm39) |
missense |
probably benign |
0.00 |
R0389:Sp140l2
|
UTSW |
1 |
85,247,773 (GRCm39) |
missense |
probably benign |
0.00 |
R1284:Sp140l2
|
UTSW |
1 |
85,247,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R1620:Sp140l2
|
UTSW |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
R1622:Sp140l2
|
UTSW |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
R1671:Sp140l2
|
UTSW |
1 |
85,235,106 (GRCm39) |
critical splice donor site |
probably null |
|
R3115:Sp140l2
|
UTSW |
1 |
85,235,106 (GRCm39) |
intron |
probably benign |
|
R4120:Sp140l2
|
UTSW |
1 |
85,237,542 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4223:Sp140l2
|
UTSW |
1 |
85,090,278 (GRCm39) |
missense |
probably damaging |
0.98 |
R4947:Sp140l2
|
UTSW |
1 |
85,090,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Sp140l2
|
UTSW |
1 |
85,224,815 (GRCm39) |
missense |
probably benign |
0.12 |
R5152:Sp140l2
|
UTSW |
1 |
85,239,581 (GRCm39) |
missense |
probably benign |
0.04 |
R6614:Sp140l2
|
UTSW |
1 |
85,179,781 (GRCm39) |
splice site |
probably null |
|
R7675:Sp140l2
|
UTSW |
1 |
85,224,736 (GRCm39) |
missense |
probably benign |
|
R7784:Sp140l2
|
UTSW |
1 |
85,190,195 (GRCm39) |
splice site |
probably null |
|
R7839:Sp140l2
|
UTSW |
1 |
85,224,736 (GRCm39) |
missense |
probably benign |
|
R8010:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8034:Sp140l2
|
UTSW |
1 |
85,231,881 (GRCm39) |
missense |
probably benign |
0.35 |
R8382:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8431:Sp140l2
|
UTSW |
1 |
85,235,170 (GRCm39) |
missense |
probably benign |
0.00 |
R8690:Sp140l2
|
UTSW |
1 |
85,235,170 (GRCm39) |
missense |
probably benign |
0.00 |
R8951:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9150:Sp140l2
|
UTSW |
1 |
85,091,359 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Sp140l2
|
UTSW |
1 |
85,091,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2015-02-04 |