Incidental Mutation 'IGL01886:Sp140l2'
ID |
279007 |
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 # |
IGL01886
|
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 |
Akt1 |
C |
T |
12: 112,625,592 (GRCm39) |
V136M |
probably benign |
Het |
Ankrd34c |
A |
T |
9: 89,612,318 (GRCm39) |
L8M |
possibly damaging |
Het |
Anks6 |
C |
A |
4: 47,044,850 (GRCm39) |
W352L |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,027,613 (GRCm39) |
N768K |
probably damaging |
Het |
Clec7a |
A |
T |
6: 129,440,140 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
G |
A |
5: 137,897,082 (GRCm39) |
P411S |
probably damaging |
Het |
Elavl2 |
A |
G |
4: 91,152,330 (GRCm39) |
V129A |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,291,537 (GRCm39) |
S994T |
possibly damaging |
Het |
Esco1 |
T |
A |
18: 10,595,262 (GRCm39) |
K8I |
probably damaging |
Het |
Esr1 |
T |
A |
10: 4,806,861 (GRCm39) |
I259K |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,613 (GRCm39) |
I734V |
possibly 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 |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Grin3a |
T |
A |
4: 49,702,814 (GRCm39) |
I891F |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,196,959 (GRCm39) |
T27A |
probably benign |
Het |
Kdm1a |
A |
G |
4: 136,288,327 (GRCm39) |
|
probably null |
Het |
Kifc5b |
T |
C |
17: 27,151,091 (GRCm39) |
V663A |
probably damaging |
Het |
Lama1 |
T |
G |
17: 68,114,792 (GRCm39) |
S2314A |
probably benign |
Het |
Lrrc69 |
C |
T |
4: 14,703,984 (GRCm39) |
V279I |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,234,783 (GRCm39) |
L774Q |
possibly damaging |
Het |
Med27 |
C |
A |
2: 29,303,494 (GRCm39) |
P9Q |
probably damaging |
Het |
Myo5a |
C |
A |
9: 75,076,372 (GRCm39) |
|
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,073,857 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,014,327 (GRCm39) |
T308A |
probably benign |
Het |
Or1l4b |
A |
G |
2: 37,036,521 (GRCm39) |
Y99C |
probably damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,844 (GRCm39) |
C124F |
probably damaging |
Het |
Orc1 |
T |
A |
4: 108,461,154 (GRCm39) |
|
probably null |
Het |
Pnkp |
G |
A |
7: 44,511,631 (GRCm39) |
A76T |
probably damaging |
Het |
Polr3h |
T |
C |
15: 81,801,591 (GRCm39) |
E95G |
probably damaging |
Het |
Prpf40b |
T |
A |
15: 99,202,328 (GRCm39) |
M62K |
unknown |
Het |
Prpf8 |
C |
A |
11: 75,386,570 (GRCm39) |
Q1075K |
probably benign |
Het |
Ptprg |
A |
G |
14: 12,179,280 (GRCm38) |
K766E |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,169,612 (GRCm39) |
N778K |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,272,442 (GRCm39) |
N204K |
probably damaging |
Het |
Shank3 |
A |
G |
15: 89,415,866 (GRCm39) |
K650E |
probably damaging |
Het |
Sim1 |
T |
A |
10: 50,860,411 (GRCm39) |
S758T |
probably damaging |
Het |
Slu7 |
T |
G |
11: 43,330,087 (GRCm39) |
N171K |
probably damaging |
Het |
Sult6b2 |
A |
G |
6: 142,735,852 (GRCm39) |
|
probably null |
Het |
Taf6l |
C |
T |
19: 8,755,450 (GRCm39) |
|
probably null |
Het |
Ubtfl1 |
G |
A |
9: 18,321,017 (GRCm39) |
V182M |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
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 |