Incidental Mutation 'IGL01876:Sp140l2'
| ID |
278970 |
| 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 # |
IGL01876
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,249,299 (GRCm39) |
|
probably benign |
Het |
| Arhgap1 |
A |
G |
2: 91,480,564 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Or5ac17 |
A |
G |
16: 59,036,382 (GRCm39) |
V198A |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,577 (GRCm39) |
L798P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc2a1 |
G |
A |
4: 118,990,575 (GRCm39) |
D236N |
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly 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 |
|
|
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 |
|
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