Incidental Mutation 'R0891:Semp2l1'
ID |
226055 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Semp2l1
|
Ensembl Gene |
ENSMUSG00000091318 |
Gene Name |
SUMO/sentrin specific peptidase 2-like 1 |
Synonyms |
Gm5415 |
MMRRC Submission |
039054-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R0891 (G1)
|
Quality Score |
32 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
32582767-32586375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32585442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 156
(H156L)
|
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 |
possibly damaging
Transcript: ENSMUST00000171322
AA Change: H156L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132789 Gene: ENSMUSG00000091318 AA Change: H156L
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
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 |
|
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 |
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'- CTGTGTTCCAGGCTCCAAGCTATTC -3'
(R):5'- TGGCAAGGCTCAAAAGATGACCC -3'
Sequencing Primer
(F):5'- GCTCCAAGCTATTCCCCCTTC -3'
(R):5'- TAGAGTTGACCGAAGGTCCTC -3'
|
Posted On |
2014-09-10 |