Incidental Mutation 'R7265:Sez6'
ID |
564886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sez6
|
Ensembl Gene |
ENSMUSG00000000632 |
Gene Name |
seizure related gene 6 |
Synonyms |
sez-6, D11Bhm177e |
MMRRC Submission |
045355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7265 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77853691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 287
(I287N)
|
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: I287N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000000646 Gene: ENSMUSG00000000632 AA Change: I287N
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 damaging
Transcript: ENSMUST00000093995
AA Change: I287N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000091532 Gene: ENSMUSG00000000632 AA Change: I287N
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 |
possibly damaging
Transcript: ENSMUST00000151982
AA Change: I120N
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132041 Gene: ENSMUSG00000000632 AA Change: I120N
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: 99.7%
- 20x: 99.1%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb3 |
A |
G |
11: 30,948,495 (GRCm39) |
E57G |
probably benign |
Het |
B3glct |
A |
G |
5: 149,632,785 (GRCm39) |
D45G |
probably benign |
Het |
BC034090 |
C |
A |
1: 155,101,073 (GRCm39) |
C397F |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,415,374 (GRCm39) |
K696E |
probably damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,868 (GRCm39) |
C15Y |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,557,257 (GRCm39) |
N300S |
|
Het |
Chia1 |
T |
A |
3: 106,036,239 (GRCm39) |
L273Q |
probably damaging |
Het |
Coq2 |
A |
G |
5: 100,808,136 (GRCm39) |
S222P |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,234,931 (GRCm39) |
V432A |
possibly damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,797 (GRCm39) |
F92S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,496,975 (GRCm39) |
V813A |
possibly damaging |
Het |
Emcn |
T |
C |
3: 137,122,839 (GRCm39) |
S183P |
probably damaging |
Het |
Emcn |
T |
A |
3: 137,124,837 (GRCm39) |
W217R |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,773,429 (GRCm39) |
|
probably null |
Het |
Epb41 |
T |
C |
4: 131,695,145 (GRCm39) |
E14G |
unknown |
Het |
Fhip1b |
G |
T |
7: 105,033,432 (GRCm39) |
R609S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,873,608 (GRCm39) |
R225G |
probably damaging |
Het |
Insl6 |
A |
T |
19: 29,298,945 (GRCm39) |
W156R |
possibly damaging |
Het |
Ints3 |
A |
T |
3: 90,311,290 (GRCm39) |
|
probably null |
Het |
Jarid2 |
G |
A |
13: 45,055,748 (GRCm39) |
G318D |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,556,650 (GRCm39) |
L596H |
probably damaging |
Het |
Lctl |
T |
A |
9: 64,034,203 (GRCm39) |
Y281N |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,935,992 (GRCm39) |
C34S |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,148,644 (GRCm39) |
S475P |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,389,767 (GRCm39) |
D1886V |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,301,670 (GRCm39) |
I944K |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mecom |
C |
A |
3: 30,034,282 (GRCm39) |
A465S |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,567,768 (GRCm39) |
S1584P |
unknown |
Het |
Mycbp2 |
A |
G |
14: 103,434,679 (GRCm39) |
|
probably null |
Het |
Myo18b |
G |
A |
5: 112,959,938 (GRCm39) |
R1372W |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,616 (GRCm39) |
I706T |
possibly damaging |
Het |
Myo1g |
T |
C |
11: 6,460,933 (GRCm39) |
T704A |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,419,556 (GRCm39) |
K914E |
probably benign |
Het |
Or5ac20 |
T |
A |
16: 59,104,287 (GRCm39) |
D191V |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,227 (GRCm39) |
I77L |
possibly damaging |
Het |
Or8k23 |
C |
T |
2: 86,186,088 (GRCm39) |
V213I |
probably benign |
Het |
Otub2 |
C |
T |
12: 103,366,480 (GRCm39) |
S99L |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,943,105 (GRCm39) |
S345L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,638,616 (GRCm39) |
I381F |
possibly damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,969 (GRCm39) |
T659A |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,321 (GRCm39) |
K533N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,402 (GRCm39) |
Q933L |
|
Het |
Ppp4r3a |
A |
T |
12: 101,019,770 (GRCm39) |
M395K |
possibly damaging |
Het |
Pramel11 |
C |
A |
4: 143,621,991 (GRCm39) |
V455L |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,336,481 (GRCm39) |
T107A |
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,227,900 (GRCm39) |
D376E |
unknown |
Het |
Scn11a |
C |
A |
9: 119,644,331 (GRCm39) |
C143F |
probably damaging |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,097 (GRCm39) |
Y79* |
probably null |
Het |
Slc52a3 |
T |
A |
2: 151,846,336 (GRCm39) |
I99K |
possibly damaging |
Het |
Slco4c1 |
T |
G |
1: 96,799,518 (GRCm39) |
H106P |
probably damaging |
Het |
Tada2b |
A |
G |
5: 36,633,952 (GRCm39) |
Y209H |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,963 (GRCm39) |
D796E |
probably benign |
Het |
Tdrd12 |
A |
T |
7: 35,187,147 (GRCm39) |
M581K |
|
Het |
Thnsl1 |
A |
G |
2: 21,217,269 (GRCm39) |
E341G |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,075,070 (GRCm39) |
R11* |
probably null |
Het |
Tmco6 |
T |
C |
18: 36,872,396 (GRCm39) |
|
probably null |
Het |
Trmt44 |
A |
T |
5: 35,721,647 (GRCm39) |
H505Q |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,590,328 (GRCm39) |
M710V |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,040,517 (GRCm39) |
E858G |
possibly damaging |
Het |
Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,464,195 (GRCm39) |
N213S |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,655,776 (GRCm39) |
V662I |
|
Het |
Zfp414 |
C |
A |
17: 33,850,253 (GRCm39) |
D217E |
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 |
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'- ATCTCCGTGTGAACTTGGG -3'
(R):5'- AAATGGAAAGTGCCAGGCCC -3'
Sequencing Primer
(F):5'- GGCCCCATCTCATACTTACGAGG -3'
(R):5'- CCAGGCCCAGCGGGTAG -3'
|
Posted On |
2019-06-26 |