Incidental Mutation 'R1148:Sez6l2'
| ID |
165201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6l2
|
| Ensembl Gene |
ENSMUSG00000030683 |
| Gene Name |
seizure related 6 homolog like 2 |
| Synonyms |
Psk1 |
| MMRRC Submission |
039221-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1148 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126549735-126569778 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126560984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 483
(P483Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106332]
[ENSMUST00000106333]
[ENSMUST00000106335]
[ENSMUST00000146017]
|
| AlphaFold |
Q4V9Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106332
AA Change: P423Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: P423Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
CUB
|
113 |
226 |
8.25e-4 |
SMART |
|
CCP
|
230 |
285 |
3.75e-15 |
SMART |
|
CUB
|
289 |
399 |
1.3e-3 |
SMART |
|
CCP
|
404 |
463 |
8.9e-8 |
SMART |
|
CUB
|
467 |
578 |
3.45e-14 |
SMART |
|
CCP
|
584 |
639 |
1.18e-12 |
SMART |
|
CCP
|
645 |
704 |
1.31e-14 |
SMART |
|
CCP
|
711 |
768 |
2.76e-13 |
SMART |
|
transmembrane domain
|
798 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106333
AA Change: P483Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: P483Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106335
AA Change: P483Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: P483Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125669
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146017
|
| SMART Domains |
Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
91 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1440 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
| AC149051.1 |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
| Alg10b |
T |
C |
15: 90,112,068 (GRCm39) |
F304S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,718,369 (GRCm39) |
S540F |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,365,346 (GRCm39) |
N590D |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,486,396 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,187,598 (GRCm39) |
L1231Q |
possibly damaging |
Het |
| Coq8a |
G |
A |
1: 179,996,968 (GRCm39) |
|
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,983,752 (GRCm39) |
|
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,294,646 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,636,899 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,421,836 (GRCm39) |
L3896P |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,961,114 (GRCm39) |
|
probably null |
Het |
| Esp4 |
A |
C |
17: 40,913,262 (GRCm39) |
N43T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,908,070 (GRCm39) |
D2644G |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Homo |
| Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,363,168 (GRCm39) |
E262G |
probably benign |
Het |
| Ly6h |
G |
T |
15: 75,437,021 (GRCm39) |
S118R |
unknown |
Het |
| Mapk12 |
T |
C |
15: 89,018,826 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,870,004 (GRCm39) |
T375A |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
| Or5g9 |
C |
A |
2: 85,552,620 (GRCm39) |
Y290* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,047,582 (GRCm39) |
F515S |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,006,392 (GRCm39) |
V90A |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,603,439 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,270 (GRCm39) |
D41G |
probably damaging |
Het |
| Rbm4b |
A |
G |
19: 4,807,527 (GRCm39) |
H81R |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,014,634 (GRCm39) |
D475G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,089,226 (GRCm39) |
S1655P |
possibly damaging |
Het |
| Slc25a12 |
G |
A |
2: 71,142,912 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,202,558 (GRCm39) |
|
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,480,228 (GRCm39) |
V161M |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,926 (GRCm39) |
L1504P |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,928,967 (GRCm39) |
|
probably benign |
Het |
| Wsb2 |
T |
C |
5: 117,508,742 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sez6l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Sez6l2
|
APN |
7 |
126,561,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01710:Sez6l2
|
APN |
7 |
126,567,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02439:Sez6l2
|
APN |
7 |
126,567,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02752:Sez6l2
|
APN |
7 |
126,552,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Sez6l2
|
UTSW |
7 |
126,560,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0783:Sez6l2
|
UTSW |
7 |
126,566,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0989:Sez6l2
|
UTSW |
7 |
126,559,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Sez6l2
|
UTSW |
7 |
126,560,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Sez6l2
|
UTSW |
7 |
126,560,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Sez6l2
|
UTSW |
7 |
126,562,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1704:Sez6l2
|
UTSW |
7 |
126,557,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Sez6l2
|
UTSW |
7 |
126,566,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Sez6l2
|
UTSW |
7 |
126,552,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Sez6l2
|
UTSW |
7 |
126,552,944 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3772:Sez6l2
|
UTSW |
7 |
126,558,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4466:Sez6l2
|
UTSW |
7 |
126,559,023 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4869:Sez6l2
|
UTSW |
7 |
126,561,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5155:Sez6l2
|
UTSW |
7 |
126,561,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5416:Sez6l2
|
UTSW |
7 |
126,561,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Sez6l2
|
UTSW |
7 |
126,566,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Sez6l2
|
UTSW |
7 |
126,569,328 (GRCm39) |
unclassified |
probably benign |
|
|
R5903:Sez6l2
|
UTSW |
7 |
126,569,305 (GRCm39) |
unclassified |
probably benign |
|
|
R6015:Sez6l2
|
UTSW |
7 |
126,552,625 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6726:Sez6l2
|
UTSW |
7 |
126,567,177 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7094:Sez6l2
|
UTSW |
7 |
126,552,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7117:Sez6l2
|
UTSW |
7 |
126,552,915 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7228:Sez6l2
|
UTSW |
7 |
126,552,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Sez6l2
|
UTSW |
7 |
126,562,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Sez6l2
|
UTSW |
7 |
126,560,915 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8321:Sez6l2
|
UTSW |
7 |
126,557,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Sez6l2
|
UTSW |
7 |
126,557,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCCAAAGCCAAATGTCTGTG -3'
(R):5'- AGGCCCTGGGTTTCAATGTTTCC -3'
Sequencing Primer
(F):5'- tggaaggctgaggaaagaag -3'
(R):5'- AGCTTCAGGGGCAGTCTTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation