Incidental Mutation 'IGL03076:Semp2l1'
| ID |
417671 |
| 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 # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
32582767-32586375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32584626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 428
(I428T)
|
| 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 damaging
Transcript: ENSMUST00000171322
AA Change: I428T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: I428T
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably damaging |
Het |
|
| Other mutations in Semp2l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Semp2l1
|
APN |
1 |
32,585,748 (GRCm39) |
missense |
probably benign |
|
|
IGL01148:Semp2l1
|
APN |
1 |
32,584,735 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02323:Semp2l1
|
APN |
1 |
32,584,785 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation