Incidental Mutation 'R5143:Semp2l2a'
| ID |
396527 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13885233-13888389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13886844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 416
(S416P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071308]
|
| AlphaFold |
G3X9P9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071308
AA Change: S416P
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: S416P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
322 |
501 |
1.9e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
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 |
|
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 |
|
|
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'- TCTTCCTGAAGGTGGGCATG -3'
(R):5'- TACCCCAAGCTAAAGCATAGTGG -3'
Sequencing Primer
(F):5'- GCTGGTCCCTAGCGATGTAATC -3'
(R):5'- GCTAAAGCATAGTGGTTACAGTTCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation