Incidental Mutation 'IGL01928:Sp140l2'
ID |
279142 |
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 # |
IGL01928
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,633,342 (GRCm39) |
T5024S |
probably benign |
Het |
Adam23 |
C |
A |
1: 63,596,605 (GRCm39) |
N562K |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,103,630 (GRCm39) |
M503I |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
Erich6 |
T |
C |
3: 58,528,692 (GRCm39) |
I519M |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,430,181 (GRCm39) |
E117G |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm45234 |
A |
G |
6: 124,721,967 (GRCm39) |
|
probably benign |
Het |
Ighv1-47 |
T |
A |
12: 114,954,913 (GRCm39) |
M56L |
probably benign |
Het |
Klf4 |
A |
G |
4: 55,530,949 (GRCm39) |
L45P |
probably benign |
Het |
Ksr1 |
A |
C |
11: 78,935,665 (GRCm39) |
|
probably null |
Het |
L3mbtl3 |
T |
C |
10: 26,206,143 (GRCm39) |
N341S |
unknown |
Het |
Mfsd12 |
T |
C |
10: 81,201,622 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,074,847 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
A |
13: 58,994,665 (GRCm39) |
C194S |
probably damaging |
Het |
Olfm4 |
G |
A |
14: 80,249,392 (GRCm39) |
V170I |
possibly damaging |
Het |
Onecut1 |
C |
A |
9: 74,796,815 (GRCm39) |
Q445K |
possibly damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,709 (GRCm39) |
D46E |
unknown |
Het |
Pak6 |
A |
G |
2: 118,520,345 (GRCm39) |
Q112R |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
C |
T |
3: 79,011,270 (GRCm39) |
E124K |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,263,565 (GRCm39) |
T893A |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,847,390 (GRCm39) |
|
probably benign |
Het |
Tgds |
T |
C |
14: 118,353,541 (GRCm39) |
T259A |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h12a |
A |
G |
4: 125,013,779 (GRCm39) |
S362P |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,641,006 (GRCm39) |
I1246T |
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 |
|
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 |