Incidental Mutation 'R5640:Sez6'
| ID |
440620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
043289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5640 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 77864585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000646]
[ENSMUST00000093995]
|
| AlphaFold |
Q7TSK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000646
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
| 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 |
probably benign
Transcript: ENSMUST00000093995
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
| 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 |
noncoding transcript
Transcript: ENSMUST00000126866
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140630
AA Change: L142P
|
| SMART Domains |
Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: L142P
| 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 |
noncoding transcript
Transcript: ENSMUST00000142542
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151982
|
| SMART Domains |
Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155087
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
| Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
| Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
| Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
| Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
| Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,234,649 (GRCm39) |
M908I |
probably damaging |
Het |
| B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
| Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
| Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
| Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
| Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,106,381 (GRCm39) |
T199A |
probably benign |
Het |
| Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
| Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
| Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
| Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
| Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,289,416 (GRCm39) |
H90R |
possibly damaging |
Het |
| Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
| Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
| Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
| Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,765,977 (GRCm39) |
D355E |
probably benign |
Het |
| Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
| Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
| Nrbp1 |
C |
T |
5: 31,406,929 (GRCm39) |
R322W |
possibly damaging |
Het |
| Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
| Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
| Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
| Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
| Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
| Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
| Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
| Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
| Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
| Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
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 |
|
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 |
|
|
R9081:Sez6
|
UTSW |
11 |
77,865,121 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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'- CCGTGGTTTGTTAACGCATC -3'
(R):5'- GCATTCGATGATGATGGAGC -3'
Sequencing Primer
(F):5'- CCGTGGTTTGTTAACGCATCAAAAAG -3'
(R):5'- ATTCGATGATGATGGAGCCCTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation