Incidental Mutation 'R9081:Sez6'
| ID |
690029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
068900-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77865121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 623
(E623K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000646]
[ENSMUST00000093995]
|
| AlphaFold |
Q7TSK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000646
AA Change: E623K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: E623K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
CUB
|
241 |
350 |
9.36e-2 |
SMART |
|
CCP
|
354 |
409 |
1.23e-10 |
SMART |
|
CUB
|
413 |
524 |
1.41e-28 |
SMART |
|
CCP
|
529 |
586 |
5.43e-12 |
SMART |
|
CUB
|
590 |
701 |
7.49e-24 |
SMART |
|
CCP
|
707 |
762 |
3.09e-16 |
SMART |
|
CCP
|
768 |
827 |
3.5e-15 |
SMART |
|
CCP
|
835 |
892 |
1.42e-15 |
SMART |
|
transmembrane domain
|
910 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093995
AA Change: E623K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: E623K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
235 |
N/A |
INTRINSIC |
|
CUB
|
241 |
350 |
9.36e-2 |
SMART |
|
CCP
|
354 |
409 |
1.23e-10 |
SMART |
|
CUB
|
413 |
524 |
1.41e-28 |
SMART |
|
CCP
|
529 |
586 |
5.43e-12 |
SMART |
|
CUB
|
590 |
701 |
7.49e-24 |
SMART |
|
CCP
|
707 |
762 |
3.09e-16 |
SMART |
|
CCP
|
768 |
827 |
3.5e-15 |
SMART |
|
CCP
|
835 |
892 |
1.42e-15 |
SMART |
|
transmembrane domain
|
923 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: E250K
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
29 |
140 |
9.8e-28 |
SMART |
|
CCP
|
157 |
214 |
5.43e-12 |
SMART |
|
Pfam:CUB
|
218 |
278 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151982
AA Change: W437*
|
| SMART Domains |
Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
AA Change: W437*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
CUB
|
75 |
184 |
9.36e-2 |
SMART |
|
CCP
|
188 |
243 |
1.23e-10 |
SMART |
|
CUB
|
247 |
358 |
8.08e-29 |
SMART |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,502 (GRCm39) |
V271E |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,109,162 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
C |
T |
2: 69,122,388 (GRCm39) |
C365Y |
possibly damaging |
Het |
| Abcd2 |
A |
T |
15: 91,075,772 (GRCm39) |
W14R |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,687,468 (GRCm39) |
D250G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,985,890 (GRCm39) |
D2391E |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Cbr1 |
G |
T |
16: 93,406,994 (GRCm39) |
G237* |
probably null |
Het |
| Cdr2l |
T |
A |
11: 115,284,939 (GRCm39) |
V425E |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,704,144 (GRCm39) |
K693* |
probably null |
Het |
| Clgn |
T |
G |
8: 84,153,169 (GRCm39) |
D590E |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,291,387 (GRCm39) |
S952T |
unknown |
Het |
| Crip3 |
T |
C |
17: 46,740,959 (GRCm39) |
L90P |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,403,636 (GRCm39) |
S2969P |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,629,493 (GRCm39) |
D173E |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,291,060 (GRCm39) |
F257Y |
probably damaging |
Het |
| Egln2 |
A |
G |
7: 26,864,286 (GRCm39) |
V213A |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,504,415 (GRCm39) |
I106T |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,963,571 (GRCm39) |
F379L |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,500 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
G |
2: 32,896,920 (GRCm39) |
D573A |
possibly damaging |
Het |
| Gja8 |
A |
G |
3: 96,826,676 (GRCm39) |
S329P |
probably damaging |
Het |
| Gzf1 |
T |
A |
2: 148,525,317 (GRCm39) |
|
probably benign |
Het |
| Hgs |
T |
A |
11: 120,366,076 (GRCm39) |
|
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,757,048 (GRCm39) |
I245T |
unknown |
Het |
| Ighv1-74 |
C |
A |
12: 115,766,454 (GRCm39) |
W55C |
probably damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,656,006 (GRCm39) |
K131R |
probably null |
Het |
| Kit |
A |
T |
5: 75,801,218 (GRCm39) |
M539L |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,874,952 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,833,930 (GRCm39) |
C1473* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,025,638 (GRCm39) |
V332A |
possibly damaging |
Het |
| Mcf2l |
T |
A |
8: 13,068,697 (GRCm39) |
Y1120N |
probably damaging |
Het |
| Meioc |
G |
A |
11: 102,565,001 (GRCm39) |
V150M |
probably benign |
Het |
| Mybpc1 |
T |
G |
10: 88,389,168 (GRCm39) |
Y400S |
probably damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,292 (GRCm39) |
|
probably benign |
Het |
| Noc2l |
A |
G |
4: 156,326,224 (GRCm39) |
Y437C |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,814,881 (GRCm39) |
M330L |
probably benign |
Het |
| Or10d4c |
A |
T |
9: 39,558,196 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or5b113 |
C |
T |
19: 13,342,019 (GRCm39) |
T9I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,184,185 (GRCm39) |
Y216H |
probably damaging |
Het |
| Pamr1 |
A |
T |
2: 102,441,933 (GRCm39) |
D174V |
probably damaging |
Het |
| Pdcd1 |
C |
T |
1: 93,968,880 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,059,908 (GRCm39) |
V3343A |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,406 (GRCm39) |
I266F |
probably benign |
Het |
| Poglut2 |
T |
A |
1: 44,153,966 (GRCm39) |
Q161L |
probably benign |
Het |
| Ppp1r12b |
C |
T |
1: 134,705,085 (GRCm39) |
V868I |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,781,825 (GRCm39) |
H325Q |
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,000,989 (GRCm39) |
T1481I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,357,062 (GRCm39) |
D4204V |
|
Het |
| Rps6kl1 |
T |
C |
12: 85,185,881 (GRCm39) |
N409S |
probably damaging |
Het |
| Rundc1 |
T |
G |
11: 101,316,053 (GRCm39) |
W42G |
probably damaging |
Het |
| Sec1 |
C |
T |
7: 45,333,987 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
C |
10: 79,462,762 (GRCm39) |
|
probably null |
Het |
| Slc19a1 |
T |
C |
10: 76,877,750 (GRCm39) |
V95A |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,762,447 (GRCm39) |
D333E |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,010,051 (GRCm39) |
R522S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,016,290 (GRCm39) |
Q3291* |
probably null |
Het |
| Taar7e |
G |
A |
10: 23,913,893 (GRCm39) |
V128I |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,717 (GRCm39) |
N555S |
probably benign |
Het |
| Themis |
C |
T |
10: 28,544,582 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,964,010 (GRCm39) |
V945A |
possibly damaging |
Het |
| Tom1 |
G |
A |
8: 75,778,151 (GRCm39) |
V78I |
probably damaging |
Het |
| Usp13 |
A |
G |
3: 32,935,542 (GRCm39) |
T323A |
probably benign |
Het |
| Usp49 |
T |
C |
17: 47,984,236 (GRCm39) |
S414P |
possibly damaging |
Het |
| Vmn1r104 |
G |
A |
7: 20,268,378 (GRCm39) |
S206N |
probably damaging |
Het |
| Vps45 |
A |
T |
3: 95,940,125 (GRCm39) |
V446E |
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,782,331 (GRCm39) |
K222R |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sez6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Sez6
|
APN |
11 |
77,868,115 (GRCm39) |
splice site |
probably benign |
|
|
IGL01142:Sez6
|
APN |
11 |
77,864,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Sez6
|
APN |
11 |
77,865,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02332:Sez6
|
APN |
11 |
77,845,568 (GRCm39) |
splice site |
probably benign |
|
|
IGL02366:Sez6
|
APN |
11 |
77,867,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02479:Sez6
|
APN |
11 |
77,868,852 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02963:Sez6
|
APN |
11 |
77,853,775 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
velum
|
UTSW |
11 |
77,865,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Sez6
|
UTSW |
11 |
77,844,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0054:Sez6
|
UTSW |
11 |
77,844,699 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0089:Sez6
|
UTSW |
11 |
77,865,170 (GRCm39) |
splice site |
probably benign |
|
|
R0485:Sez6
|
UTSW |
11 |
77,844,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0598:Sez6
|
UTSW |
11 |
77,868,647 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0729:Sez6
|
UTSW |
11 |
77,867,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1117:Sez6
|
UTSW |
11 |
77,865,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Sez6
|
UTSW |
11 |
77,844,711 (GRCm39) |
missense |
probably benign |
|
|
R1534:Sez6
|
UTSW |
11 |
77,853,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Sez6
|
UTSW |
11 |
77,844,329 (GRCm39) |
missense |
probably benign |
|
|
R1840:Sez6
|
UTSW |
11 |
77,844,543 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1929:Sez6
|
UTSW |
11 |
77,863,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Sez6
|
UTSW |
11 |
77,844,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3156:Sez6
|
UTSW |
11 |
77,844,605 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3930:Sez6
|
UTSW |
11 |
77,867,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3931:Sez6
|
UTSW |
11 |
77,867,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4894:Sez6
|
UTSW |
11 |
77,866,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Sez6
|
UTSW |
11 |
77,866,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Sez6
|
UTSW |
11 |
77,859,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Sez6
|
UTSW |
11 |
77,859,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5057:Sez6
|
UTSW |
11 |
77,863,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Sez6
|
UTSW |
11 |
77,867,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5640:Sez6
|
UTSW |
11 |
77,864,585 (GRCm39) |
intron |
probably benign |
|
|
R6013:Sez6
|
UTSW |
11 |
77,864,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Sez6
|
UTSW |
11 |
77,864,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Sez6
|
UTSW |
11 |
77,868,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6279:Sez6
|
UTSW |
11 |
77,867,367 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6300:Sez6
|
UTSW |
11 |
77,867,367 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6475:Sez6
|
UTSW |
11 |
77,864,670 (GRCm39) |
|
|
|
|
R6722:Sez6
|
UTSW |
11 |
77,844,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Sez6
|
UTSW |
11 |
77,844,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Sez6
|
UTSW |
11 |
77,844,695 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7012:Sez6
|
UTSW |
11 |
77,868,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7233:Sez6
|
UTSW |
11 |
77,863,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Sez6
|
UTSW |
11 |
77,853,691 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7289:Sez6
|
UTSW |
11 |
77,865,149 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7405:Sez6
|
UTSW |
11 |
77,853,717 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7408:Sez6
|
UTSW |
11 |
77,844,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Sez6
|
UTSW |
11 |
77,864,711 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7592:Sez6
|
UTSW |
11 |
77,868,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7778:Sez6
|
UTSW |
11 |
77,865,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Sez6
|
UTSW |
11 |
77,868,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Sez6
|
UTSW |
11 |
77,867,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Sez6
|
UTSW |
11 |
77,865,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Sez6
|
UTSW |
11 |
77,844,668 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8008:Sez6
|
UTSW |
11 |
77,864,082 (GRCm39) |
nonsense |
probably null |
|
|
R8840:Sez6
|
UTSW |
11 |
77,867,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Sez6
|
UTSW |
11 |
77,844,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Sez6
|
UTSW |
11 |
77,865,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Sez6
|
UTSW |
11 |
77,864,762 (GRCm39) |
missense |
probably benign |
|
|
R9082:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9092:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9094:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9095:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9097:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9169:Sez6
|
UTSW |
11 |
77,868,473 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9513:Sez6
|
UTSW |
11 |
77,865,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9632:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9646:Sez6
|
UTSW |
11 |
77,867,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9709:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0013:Sez6
|
UTSW |
11 |
77,845,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0067:Sez6
|
UTSW |
11 |
77,865,264 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Sez6
|
UTSW |
11 |
77,864,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGTGTGATTGATATTTCTCC -3'
(R):5'- AGTACATCCCCAGAGCCTATG -3'
Sequencing Primer
(F):5'- TACTTCTGTGGGCAGGTGAAAGC -3'
(R):5'- CCAGAGCCTATGCGCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation