Incidental Mutation 'IGL01951:Sp140l2'
| ID |
279194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sp140l2
|
| Ensembl Gene |
ENSMUSG00000052477 |
| Gene Name |
Sp140 nuclear body protein like 2 |
| Synonyms |
OTTMUSG00000029174, C130026I21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 85231907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064341]
[ENSMUST00000093506]
[ENSMUST00000159582]
[ENSMUST00000161267]
[ENSMUST00000162421]
|
| 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 |
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 |
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 |
probably benign
Transcript: ENSMUST00000161685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162421
|
| SMART Domains |
Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
40 |
135 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166777
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Begain |
T |
A |
12: 108,999,571 (GRCm39) |
Y605F |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
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 |
|
|
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 |
|
R0367:Sp140l2
|
UTSW |
1 |
85,247,824 (GRCm39) |
start gained |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation