Incidental Mutation 'IGL02647:Semp2l2a'
ID |
301974 |
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 # |
IGL02647
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
13885233-13888389 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13886979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 371
(T371A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071308]
|
AlphaFold |
G3X9P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071308
AA Change: T371A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096518 Gene: ENSMUSG00000057116 AA Change: T371A
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Hnmt |
G |
A |
2: 23,904,319 (GRCm39) |
S114F |
possibly damaging |
Het |
Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
Het |
|
Other mutations in Semp2l2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02291:Semp2l2a
|
APN |
8 |
13,887,704 (GRCm39) |
missense |
probably benign |
0.03 |
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 |