Incidental Mutation 'PIT4576001:Semp2l1'
| ID |
556357 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4576001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
32582767-32586375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32585553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 119
(E119G)
|
| 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: E119G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: E119G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
137 |
150 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
298 |
477 |
7.4e-44 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 72.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,929,983 (GRCm39) |
S73P |
probably damaging |
Het |
| 5730596B20Rik |
G |
T |
6: 52,156,449 (GRCm39) |
V172F |
unknown |
Het |
| Brms1 |
A |
G |
19: 5,096,229 (GRCm39) |
K69E |
probably damaging |
Het |
| Calr4 |
A |
C |
4: 109,093,053 (GRCm39) |
Q44H |
possibly damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,823,071 (GRCm39) |
T1242I |
probably benign |
Het |
| Dyrk3 |
A |
G |
1: 131,057,918 (GRCm39) |
V85A |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,452,974 (GRCm39) |
Y250H |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,572,093 (GRCm39) |
E749G |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,477,682 (GRCm39) |
I2243V |
probably damaging |
Het |
| Gh |
A |
T |
11: 106,191,659 (GRCm39) |
F128I |
possibly damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,041,763 (GRCm39) |
Y150H |
probably damaging |
Het |
| H2ac15 |
C |
A |
13: 21,937,781 (GRCm39) |
D73Y |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,234,903 (GRCm39) |
S452P |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,367,114 (GRCm39) |
E2549G |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,195,380 (GRCm39) |
A41V |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,955,850 (GRCm39) |
K1201M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,224,543 (GRCm39) |
S906P |
probably damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,874 (GRCm39) |
V98A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,581,889 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pfdn2 |
A |
G |
1: 171,173,310 (GRCm39) |
S11G |
unknown |
Het |
| Prdm1 |
T |
C |
10: 44,334,504 (GRCm39) |
M1V |
probably null |
Het |
| Prelp |
A |
G |
1: 133,842,903 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prss12 |
T |
C |
3: 123,280,764 (GRCm39) |
V483A |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,656,955 (GRCm39) |
V154L |
probably damaging |
Het |
| Ptpru |
G |
A |
4: 131,529,855 (GRCm39) |
R618* |
probably null |
Het |
| Rpa1 |
A |
G |
11: 75,203,984 (GRCm39) |
S288P |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,920,081 (GRCm39) |
F817L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,910,564 (GRCm39) |
S545C |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,612,988 (GRCm39) |
V844D |
possibly damaging |
Het |
| Suclg2 |
G |
T |
6: 95,563,999 (GRCm39) |
D195E |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,539,998 (GRCm39) |
A1537D |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,027 (GRCm39) |
D73G |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Usp19 |
T |
A |
9: 108,369,931 (GRCm39) |
|
probably null |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,912 (GRCm39) |
F527L |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,533,473 (GRCm39) |
V459A |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCGTCTGGTGAAAGACATTC -3'
(R):5'- TGGCAAGGCTCAAAAGATGACC -3'
Sequencing Primer
(F):5'- CTTTTAGAGCCACAACAGTAGATGG -3'
(R):5'- CCTCCAGACCTAGAGCTTGCTATAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation