Incidental Mutation 'R0089:Sez6'
ID |
20083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sez6
|
Ensembl Gene |
ENSMUSG00000000632 |
Gene Name |
seizure related gene 6 |
Synonyms |
sez-6, D11Bhm177e |
MMRRC Submission |
038376-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0089 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 77865170 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 |
probably benign
Transcript: ENSMUST00000140630
|
SMART Domains |
Protein: ENSMUSP00000115660 Gene: ENSMUSG00000000632
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: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 90.5%
|
Validation Efficiency |
98% (82/84) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,282,303 (GRCm39) |
H163L |
probably benign |
Het |
Abca13 |
T |
A |
11: 9,242,886 (GRCm39) |
V1583E |
possibly damaging |
Het |
Ablim1 |
G |
T |
19: 57,031,463 (GRCm39) |
S654Y |
probably damaging |
Het |
Acbd4 |
T |
C |
11: 102,994,819 (GRCm39) |
F59S |
probably damaging |
Het |
Acot1 |
T |
C |
12: 84,063,708 (GRCm39) |
I272T |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,773,409 (GRCm39) |
D1402G |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,945,371 (GRCm39) |
F2800I |
possibly damaging |
Het |
Brd1 |
T |
C |
15: 88,585,401 (GRCm39) |
E811G |
probably benign |
Het |
Catspere2 |
C |
T |
1: 177,874,555 (GRCm39) |
P141S |
unknown |
Het |
Ccdc106 |
A |
G |
7: 5,059,220 (GRCm39) |
|
probably null |
Het |
Ccdc81 |
G |
T |
7: 89,542,324 (GRCm39) |
A184E |
possibly damaging |
Het |
Cenpt |
T |
C |
8: 106,573,000 (GRCm39) |
T364A |
probably benign |
Het |
Crybg2 |
T |
C |
4: 133,808,505 (GRCm39) |
S1060P |
probably damaging |
Het |
Dnttip2 |
A |
G |
3: 122,069,111 (GRCm39) |
T109A |
possibly damaging |
Het |
Dpy19l2 |
A |
G |
9: 24,607,089 (GRCm39) |
L124P |
probably benign |
Het |
Eif1ad19 |
A |
T |
12: 87,740,283 (GRCm39) |
I92N |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,849,501 (GRCm39) |
D3967G |
probably benign |
Het |
Fbxo21 |
T |
A |
5: 118,146,208 (GRCm39) |
F610L |
probably benign |
Het |
Fmo9 |
T |
C |
1: 166,494,878 (GRCm39) |
D341G |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,342,507 (GRCm39) |
H1600L |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,263,892 (GRCm39) |
K133N |
possibly damaging |
Het |
Gm10647 |
A |
G |
9: 66,705,612 (GRCm39) |
|
probably benign |
Het |
Gmps |
T |
C |
3: 63,906,119 (GRCm39) |
F472S |
probably benign |
Het |
Grb10 |
T |
C |
11: 11,884,192 (GRCm39) |
|
probably benign |
Het |
Grm6 |
G |
A |
11: 50,750,792 (GRCm39) |
G652S |
probably damaging |
Het |
Heca |
G |
T |
10: 17,783,848 (GRCm39) |
D468E |
probably damaging |
Het |
Heg1 |
C |
T |
16: 33,583,985 (GRCm39) |
S1033L |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,487,094 (GRCm39) |
S12P |
probably damaging |
Het |
Impdh1 |
G |
T |
6: 29,206,325 (GRCm39) |
H195N |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,649,972 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,251,520 (GRCm39) |
|
probably null |
Het |
Kcnh6 |
G |
A |
11: 105,899,848 (GRCm39) |
C39Y |
probably benign |
Het |
Kif26a |
T |
C |
12: 112,143,837 (GRCm39) |
S1364P |
probably damaging |
Het |
Lins1 |
T |
A |
7: 66,361,796 (GRCm39) |
|
probably benign |
Het |
Lrpap1 |
C |
T |
5: 35,252,232 (GRCm39) |
V328M |
possibly damaging |
Het |
Lyn |
T |
G |
4: 3,748,768 (GRCm39) |
L249V |
probably benign |
Het |
Mpp7 |
A |
G |
18: 7,439,555 (GRCm39) |
|
probably benign |
Het |
Mtmr9 |
A |
G |
14: 63,765,696 (GRCm39) |
F400L |
possibly damaging |
Het |
Mto1 |
G |
A |
9: 78,381,154 (GRCm39) |
S666N |
probably benign |
Het |
Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
Nsg1 |
T |
C |
5: 38,312,974 (GRCm39) |
E75G |
probably benign |
Het |
Nsun4 |
A |
G |
4: 115,892,970 (GRCm39) |
M283T |
probably benign |
Het |
Obscn |
A |
G |
11: 58,890,888 (GRCm39) |
S7215P |
unknown |
Het |
Or11j4 |
T |
C |
14: 50,630,321 (GRCm39) |
I36T |
probably benign |
Het |
Or13a20 |
T |
C |
7: 140,232,224 (GRCm39) |
S111P |
probably damaging |
Het |
Or1j12 |
G |
A |
2: 36,343,107 (GRCm39) |
R170K |
probably benign |
Het |
Or2y13 |
G |
A |
11: 49,415,033 (GRCm39) |
S161N |
possibly damaging |
Het |
Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
Or5al1 |
A |
C |
2: 85,989,918 (GRCm39) |
S265R |
possibly damaging |
Het |
Or9m1b |
T |
C |
2: 87,836,331 (GRCm39) |
I264V |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,994,869 (GRCm39) |
F563S |
probably benign |
Het |
Pik3c3 |
T |
A |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
Pitrm1 |
A |
T |
13: 6,605,675 (GRCm39) |
K207N |
probably damaging |
Het |
Prdm10 |
C |
T |
9: 31,227,526 (GRCm39) |
R44C |
probably damaging |
Het |
Rab40c |
A |
T |
17: 26,104,122 (GRCm39) |
I90N |
probably damaging |
Het |
Rbl1 |
A |
G |
2: 157,041,334 (GRCm39) |
|
probably null |
Het |
Rnf17 |
G |
A |
14: 56,751,563 (GRCm39) |
G1467E |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,386,841 (GRCm39) |
|
probably benign |
Het |
Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
Scap |
T |
C |
9: 110,201,290 (GRCm39) |
I93T |
possibly damaging |
Het |
Slc22a30 |
A |
T |
19: 8,347,561 (GRCm39) |
S280T |
probably benign |
Het |
Slc26a5 |
A |
C |
5: 22,016,342 (GRCm39) |
|
probably null |
Het |
St18 |
T |
C |
1: 6,919,172 (GRCm39) |
V901A |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,010,650 (GRCm39) |
L2519P |
probably damaging |
Het |
Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,236 (GRCm39) |
T171A |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,966,024 (GRCm39) |
I453N |
probably damaging |
Het |
Trank1 |
A |
T |
9: 111,221,978 (GRCm39) |
H2905L |
probably benign |
Het |
Trim13 |
C |
T |
14: 61,842,166 (GRCm39) |
T61I |
possibly damaging |
Het |
Trim75 |
T |
C |
8: 65,435,580 (GRCm39) |
Q290R |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,559,544 (GRCm39) |
R29619L |
probably damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,568,417 (GRCm39) |
M293L |
probably benign |
Het |
Vmn1r22 |
T |
A |
6: 57,877,513 (GRCm39) |
N155Y |
probably benign |
Het |
Vmn2r18 |
T |
C |
5: 151,508,269 (GRCm39) |
Y285C |
probably benign |
Het |
Vmn2r84 |
C |
T |
10: 130,222,588 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
C |
6: 13,220,004 (GRCm39) |
L49R |
probably damaging |
Het |
Yipf2 |
T |
A |
9: 21,503,262 (GRCm39) |
E68D |
possibly damaging |
Het |
Zfand5 |
C |
A |
19: 21,257,122 (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 |
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 |
|
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'- AACAAGCAGGGTAGGTCCCTAGTG -3'
(R):5'- TGTGAGGTCATCCCCATCGTAGAAG -3'
Sequencing Primer
(F):5'- GCCACAGCTCAGTGTGATTG -3'
(R):5'- TCGTAGAAGGTCAGTACATCCC -3'
|
Posted On |
2013-04-11 |