Incidental Mutation 'R2353:Semp2l2a'
| ID |
246256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Semp2l2a
|
| Ensembl Gene |
ENSMUSG00000057116 |
| Gene Name |
SUMO/sentrin specific peptidase 2-like 2A |
| Synonyms |
AF366264 |
| MMRRC Submission |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.485)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13885233-13888389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13886951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 380
(E380V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071308]
|
| AlphaFold |
G3X9P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071308
AA Change: E380V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: E380V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
322 |
501 |
1.9e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.7818 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
| Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,239 (GRCm39) |
Q649H |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,954,046 (GRCm39) |
R86S |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,512,213 (GRCm39) |
|
probably null |
Het |
| Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
| Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
| Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
| Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
| Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
| Zfp109 |
T |
C |
7: 23,928,806 (GRCm39) |
D201G |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCCAGCTCAATGTTCC -3'
(R):5'- TCAAGTTGCAAATCAGCAGAG -3'
Sequencing Primer
(F):5'- AGCTCAATGTTCCTGCGG -3'
(R):5'- AACGGTCAGTGGCTCAATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation