Incidental Mutation 'IGL00546:Semp2l1'
ID |
7516 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Semp2l1
|
Ensembl Gene |
ENSMUSG00000091318 |
Gene Name |
SUMO/sentrin specific peptidase 2-like 1 |
Synonyms |
Gm5415 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
IGL00546
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
32582767-32586375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32585748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 54
(M54K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027226]
[ENSMUST00000171322]
|
AlphaFold |
E9PXF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027226
|
SMART Domains |
Protein: ENSMUSP00000027226 Gene: ENSMUSG00000026058
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
48 |
N/A |
INTRINSIC |
KH
|
58 |
156 |
4.93e-7 |
SMART |
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
low complexity region
|
204 |
231 |
N/A |
INTRINSIC |
Pfam:Sam68-YY
|
267 |
321 |
1.3e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171322
AA Change: M54K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132789 Gene: ENSMUSG00000091318 AA Change: M54K
Domain | Start | End | E-Value | Type |
low complexity region
|
137 |
150 |
N/A |
INTRINSIC |
Pfam:Peptidase_C48
|
298 |
477 |
7.4e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195761
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
T |
C |
17: 48,401,096 (GRCm39) |
V127A |
possibly damaging |
Het |
9130008F23Rik |
C |
A |
17: 41,191,004 (GRCm39) |
V142L |
possibly damaging |
Het |
Adnp2 |
T |
C |
18: 80,172,082 (GRCm39) |
T776A |
probably benign |
Het |
Arid4a |
T |
A |
12: 71,122,445 (GRCm39) |
V942E |
probably benign |
Het |
Bdnf |
C |
T |
2: 109,553,892 (GRCm39) |
P89S |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,652,077 (GRCm39) |
D302G |
probably damaging |
Het |
Cnot6 |
A |
T |
11: 49,576,093 (GRCm39) |
S158T |
probably benign |
Het |
Dbt |
A |
C |
3: 116,332,930 (GRCm39) |
K250Q |
probably benign |
Het |
Exd2 |
A |
G |
12: 80,527,321 (GRCm39) |
I171M |
probably benign |
Het |
Ints14 |
A |
T |
9: 64,880,074 (GRCm39) |
N196I |
probably benign |
Het |
Krt79 |
G |
T |
15: 101,838,308 (GRCm39) |
N482K |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,493,672 (GRCm39) |
A678T |
probably damaging |
Het |
Mrpl51 |
A |
G |
6: 125,170,177 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
C |
A |
16: 13,221,086 (GRCm39) |
A754D |
probably benign |
Het |
Mrtfb |
T |
G |
16: 13,221,089 (GRCm39) |
L766R |
possibly damaging |
Het |
Nipsnap1 |
A |
G |
11: 4,839,098 (GRCm39) |
E126G |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,046,569 (GRCm39) |
|
probably benign |
Het |
Slc15a5 |
A |
G |
6: 138,020,536 (GRCm39) |
Y266H |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,697,817 (GRCm39) |
D73Y |
probably damaging |
Het |
|
Other mutations in Semp2l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01148:Semp2l1
|
APN |
1 |
32,584,735 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02323:Semp2l1
|
APN |
1 |
32,584,785 (GRCm39) |
nonsense |
probably null |
|
IGL03076:Semp2l1
|
APN |
1 |
32,584,626 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03288:Semp2l1
|
APN |
1 |
32,584,841 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4576001:Semp2l1
|
UTSW |
1 |
32,585,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Semp2l1
|
UTSW |
1 |
32,584,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0510:Semp2l1
|
UTSW |
1 |
32,584,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0891:Semp2l1
|
UTSW |
1 |
32,585,442 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1836:Semp2l1
|
UTSW |
1 |
32,584,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Semp2l1
|
UTSW |
1 |
32,584,627 (GRCm39) |
missense |
probably damaging |
0.99 |
R2156:Semp2l1
|
UTSW |
1 |
32,585,128 (GRCm39) |
missense |
probably benign |
0.08 |
R2226:Semp2l1
|
UTSW |
1 |
32,584,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R2422:Semp2l1
|
UTSW |
1 |
32,584,942 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4761:Semp2l1
|
UTSW |
1 |
32,585,588 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4901:Semp2l1
|
UTSW |
1 |
32,585,701 (GRCm39) |
missense |
probably benign |
0.00 |
R5129:Semp2l1
|
UTSW |
1 |
32,584,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5129:Semp2l1
|
UTSW |
1 |
32,584,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R5184:Semp2l1
|
UTSW |
1 |
32,584,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R5259:Semp2l1
|
UTSW |
1 |
32,584,598 (GRCm39) |
nonsense |
probably null |
|
R6271:Semp2l1
|
UTSW |
1 |
32,584,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R6589:Semp2l1
|
UTSW |
1 |
32,585,792 (GRCm39) |
missense |
probably benign |
0.44 |
R6746:Semp2l1
|
UTSW |
1 |
32,585,844 (GRCm39) |
missense |
probably benign |
|
R7720:Semp2l1
|
UTSW |
1 |
32,585,178 (GRCm39) |
missense |
probably benign |
0.00 |
R7855:Semp2l1
|
UTSW |
1 |
32,585,114 (GRCm39) |
missense |
probably damaging |
0.96 |
R8006:Semp2l1
|
UTSW |
1 |
32,586,005 (GRCm39) |
start gained |
probably benign |
|
R8177:Semp2l1
|
UTSW |
1 |
32,585,457 (GRCm39) |
missense |
probably benign |
|
R8946:Semp2l1
|
UTSW |
1 |
32,585,685 (GRCm39) |
missense |
probably benign |
0.02 |
R9172:Semp2l1
|
UTSW |
1 |
32,585,165 (GRCm39) |
missense |
probably benign |
|
R9455:Semp2l1
|
UTSW |
1 |
32,585,907 (GRCm39) |
start codon destroyed |
probably null |
|
X0024:Semp2l1
|
UTSW |
1 |
32,584,792 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Posted On |
2012-04-20 |