Incidental Mutation 'R4117:Semp2l2b'
| ID |
315140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Semp2l2b
|
| Ensembl Gene |
ENSMUSG00000069712 |
| Gene Name |
SUMO/sentrin specific peptidase 2-like 2B |
| Synonyms |
4930444G20Rik |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
21942208-21943978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21943615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 122
(N122Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092672]
|
| AlphaFold |
D3Z741 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092672
AA Change: N122Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: N122Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
315 |
494 |
1.9e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Bard1 |
A |
T |
1: 71,085,922 (GRCm39) |
H594Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
probably damaging |
Het |
|
| Other mutations in Semp2l2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02001:Semp2l2b
|
APN |
10 |
21,943,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02546:Semp2l2b
|
APN |
10 |
21,942,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Semp2l2b
|
APN |
10 |
21,943,057 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0543:Semp2l2b
|
UTSW |
10 |
21,942,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1762:Semp2l2b
|
UTSW |
10 |
21,943,411 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2249:Semp2l2b
|
UTSW |
10 |
21,943,015 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2354:Semp2l2b
|
UTSW |
10 |
21,943,155 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2870:Semp2l2b
|
UTSW |
10 |
21,943,278 (GRCm39) |
missense |
probably benign |
|
|
R2870:Semp2l2b
|
UTSW |
10 |
21,943,278 (GRCm39) |
missense |
probably benign |
|
|
R3777:Semp2l2b
|
UTSW |
10 |
21,942,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644:Semp2l2b
|
UTSW |
10 |
21,942,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5002:Semp2l2b
|
UTSW |
10 |
21,943,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5667:Semp2l2b
|
UTSW |
10 |
21,942,742 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5671:Semp2l2b
|
UTSW |
10 |
21,942,742 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6694:Semp2l2b
|
UTSW |
10 |
21,943,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Semp2l2b
|
UTSW |
10 |
21,942,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Semp2l2b
|
UTSW |
10 |
21,943,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Semp2l2b
|
UTSW |
10 |
21,943,160 (GRCm39) |
missense |
probably benign |
|
|
R7065:Semp2l2b
|
UTSW |
10 |
21,943,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7204:Semp2l2b
|
UTSW |
10 |
21,943,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Semp2l2b
|
UTSW |
10 |
21,943,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9403:Semp2l2b
|
UTSW |
10 |
21,943,840 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9416:Semp2l2b
|
UTSW |
10 |
21,943,752 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9508:Semp2l2b
|
UTSW |
10 |
21,942,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9615:Semp2l2b
|
UTSW |
10 |
21,943,611 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGATGGTTCTCGATCGCTC -3'
(R):5'- GGATGGTATTTAAAGAGCCTGGC -3'
Sequencing Primer
(F):5'- ATGGTTCTCGATCGCTCTGAGTTC -3'
(R):5'- GAGCCTCGAGATCAAGAGCTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation