Incidental Mutation 'R4644:Semp2l2b'
| ID |
351782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Semp2l2b
|
| Ensembl Gene |
ENSMUSG00000069712 |
| Gene Name |
SUMO/sentrin specific peptidase 2-like 2B |
| Synonyms |
4930444G20Rik |
| MMRRC Submission |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
21942208-21943978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21942660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 440
(V440A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092672]
|
| AlphaFold |
D3Z741 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092672
AA Change: V440A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: V440A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
194 |
205 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
315 |
494 |
1.9e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
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 |
|
R4117:Semp2l2b
|
UTSW |
10 |
21,943,615 (GRCm39) |
missense |
probably benign |
|
|
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'- ACCAGGTGGATGTTGTTACAG -3'
(R):5'- ATGGACTCGAGGCATCAATC -3'
Sequencing Primer
(F):5'- AGTAATTGACTGTGCAGGATTTCCC -3'
(R):5'- GGACTCGAGGCATCAATCTCTTTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation