Incidental Mutation 'IGL02291:Semp2l2a'
| ID |
290312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Semp2l2a
|
| Ensembl Gene |
ENSMUSG00000057116 |
| Gene Name |
SUMO/sentrin specific peptidase 2-like 2A |
| Synonyms |
AF366264 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
IGL02291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13885233-13888389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13887704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 129
(N129I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071308]
|
| AlphaFold |
G3X9P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071308
AA Change: N129I
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: N129I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
322 |
501 |
1.9e-45 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
A |
8: 78,109,344 (GRCm39) |
|
probably benign |
Het |
| Cfap161 |
C |
T |
7: 83,440,847 (GRCm39) |
G135D |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,021 (GRCm39) |
I219N |
probably damaging |
Het |
| Creb3l4 |
T |
G |
3: 90,149,290 (GRCm39) |
R139S |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,861,458 (GRCm39) |
K1929E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,779,791 (GRCm39) |
L655P |
probably damaging |
Het |
| Igsf3 |
T |
G |
3: 101,346,845 (GRCm39) |
H613Q |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,264,503 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,763,373 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
A |
T |
11: 100,147,319 (GRCm39) |
V404E |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,723,192 (GRCm39) |
I199T |
possibly damaging |
Het |
| Mks1 |
T |
A |
11: 87,750,493 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,013,415 (GRCm39) |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,078,250 (GRCm39) |
D100G |
probably damaging |
Het |
| Or13a21 |
A |
T |
7: 139,999,200 (GRCm39) |
L162Q |
probably damaging |
Het |
| Or1o11 |
G |
A |
17: 37,757,176 (GRCm39) |
V255I |
possibly damaging |
Het |
| Or2y1g |
T |
A |
11: 49,171,812 (GRCm39) |
I279N |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,124,098 (GRCm39) |
I151T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,747,811 (GRCm39) |
V282A |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,612,711 (GRCm39) |
|
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,398,255 (GRCm39) |
N93D |
probably damaging |
Het |
| Slc7a9 |
G |
A |
7: 35,156,439 (GRCm39) |
G294R |
probably damaging |
Het |
| Taf7 |
C |
T |
18: 37,776,415 (GRCm39) |
G51R |
possibly damaging |
Het |
| Tas2r126 |
G |
A |
6: 42,412,221 (GRCm39) |
M251I |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,234,181 (GRCm39) |
F473S |
probably damaging |
Het |
| Vmn1r127 |
A |
G |
7: 21,052,999 (GRCm39) |
L263P |
possibly damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,193 (GRCm39) |
V36I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,617 (GRCm39) |
H407L |
probably damaging |
Het |
|
| Other mutations in Semp2l2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02647:Semp2l2a
|
APN |
8 |
13,886,979 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03118:Semp2l2a
|
APN |
8 |
13,888,096 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4342:Semp2l2a
|
UTSW |
8 |
13,887,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Semp2l2a
|
UTSW |
8 |
13,887,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1796:Semp2l2a
|
UTSW |
8 |
13,886,816 (GRCm39) |
nonsense |
probably null |
|
|
R1913:Semp2l2a
|
UTSW |
8 |
13,887,143 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2353:Semp2l2a
|
UTSW |
8 |
13,886,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Semp2l2a
|
UTSW |
8 |
13,887,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Semp2l2a
|
UTSW |
8 |
13,886,736 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4222:Semp2l2a
|
UTSW |
8 |
13,888,061 (GRCm39) |
missense |
probably benign |
|
|
R4628:Semp2l2a
|
UTSW |
8 |
13,886,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Semp2l2a
|
UTSW |
8 |
13,886,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4802:Semp2l2a
|
UTSW |
8 |
13,886,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4836:Semp2l2a
|
UTSW |
8 |
13,888,007 (GRCm39) |
missense |
probably benign |
|
|
R5143:Semp2l2a
|
UTSW |
8 |
13,886,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5637:Semp2l2a
|
UTSW |
8 |
13,887,713 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5930:Semp2l2a
|
UTSW |
8 |
13,887,263 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6540:Semp2l2a
|
UTSW |
8 |
13,887,573 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6556:Semp2l2a
|
UTSW |
8 |
13,887,690 (GRCm39) |
nonsense |
probably null |
|
|
R6724:Semp2l2a
|
UTSW |
8 |
13,887,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Semp2l2a
|
UTSW |
8 |
13,886,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7148:Semp2l2a
|
UTSW |
8 |
13,887,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Semp2l2a
|
UTSW |
8 |
13,887,995 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8198:Semp2l2a
|
UTSW |
8 |
13,887,056 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8483:Semp2l2a
|
UTSW |
8 |
13,888,229 (GRCm39) |
start gained |
probably benign |
|
|
R9090:Semp2l2a
|
UTSW |
8 |
13,886,697 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9271:Semp2l2a
|
UTSW |
8 |
13,886,697 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
X0020:Semp2l2a
|
UTSW |
8 |
13,886,847 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation