Incidental Mutation 'R4904:Sez6'
ID |
378051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sez6
|
Ensembl Gene |
ENSMUSG00000000632 |
Gene Name |
seizure related gene 6 |
Synonyms |
sez-6, D11Bhm177e |
MMRRC Submission |
042507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77866080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 736
(Y736C)
|
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: Y736C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000646 Gene: ENSMUSG00000000632 AA Change: Y736C
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: Y736C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091532 Gene: ENSMUSG00000000632 AA Change: Y736C
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
|
Meta Mutation Damage Score |
0.6453 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
Validation Efficiency |
94% (82/87) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
T |
G |
4: 129,906,332 (GRCm39) |
I920S |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,871,786 (GRCm39) |
I556T |
probably benign |
Het |
Ankfy1 |
C |
A |
11: 72,642,931 (GRCm39) |
H665N |
probably benign |
Het |
Aqp9 |
A |
C |
9: 71,069,685 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,854,872 (GRCm39) |
S1497P |
probably benign |
Het |
Armc7 |
A |
G |
11: 115,379,800 (GRCm39) |
D166G |
probably damaging |
Het |
Arrdc1 |
C |
A |
2: 24,816,676 (GRCm39) |
V167F |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,729,164 (GRCm39) |
I1259N |
probably damaging |
Het |
Coq8a |
C |
T |
1: 180,006,168 (GRCm39) |
R207Q |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dcbld1 |
C |
T |
10: 52,196,066 (GRCm39) |
Q425* |
probably null |
Het |
Def8 |
A |
G |
8: 124,188,219 (GRCm39) |
N445D |
probably damaging |
Het |
Dicer1 |
C |
T |
12: 104,679,325 (GRCm39) |
V551I |
probably benign |
Het |
Dst |
A |
T |
1: 34,208,879 (GRCm39) |
T800S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,300,457 (GRCm39) |
C136S |
probably damaging |
Het |
Duox1 |
T |
A |
2: 122,151,345 (GRCm39) |
Y310N |
probably damaging |
Het |
Duxf1 |
T |
A |
10: 58,059,309 (GRCm39) |
R482* |
probably null |
Het |
Ebf1 |
T |
C |
11: 44,759,996 (GRCm39) |
F211S |
probably damaging |
Het |
Gm44501 |
A |
T |
17: 40,889,884 (GRCm39) |
I133F |
possibly damaging |
Het |
Gm6625 |
T |
C |
8: 89,873,379 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
T |
16: 36,713,748 (GRCm39) |
D243V |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
G |
A |
17: 88,997,471 (GRCm39) |
|
probably null |
Het |
Herc2 |
T |
C |
7: 55,807,234 (GRCm39) |
F2471L |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,892,037 (GRCm39) |
I109N |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,770,000 (GRCm39) |
E43G |
probably benign |
Het |
Hspa1a |
T |
C |
17: 35,189,427 (GRCm39) |
D492G |
probably damaging |
Het |
Itgb8 |
T |
C |
12: 119,134,606 (GRCm39) |
D487G |
probably benign |
Het |
Jag1 |
A |
G |
2: 136,929,062 (GRCm39) |
V798A |
probably damaging |
Het |
Kcnq5 |
A |
G |
1: 21,494,324 (GRCm39) |
V501A |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,396 (GRCm39) |
V743A |
possibly damaging |
Het |
Ly86 |
G |
T |
13: 37,599,496 (GRCm39) |
V126F |
possibly damaging |
Het |
Med26 |
A |
T |
8: 73,250,691 (GRCm39) |
L136H |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,891,413 (GRCm39) |
D575G |
probably benign |
Het |
Myoc |
G |
A |
1: 162,466,994 (GRCm39) |
M54I |
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,454 (GRCm39) |
|
noncoding transcript |
Het |
Or10v9 |
C |
T |
19: 11,833,231 (GRCm39) |
V29M |
possibly damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,272 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5v1b |
A |
G |
17: 37,841,522 (GRCm39) |
Y218C |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,925,267 (GRCm39) |
D678E |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,909 (GRCm39) |
V685A |
possibly damaging |
Het |
Pcdhga2 |
A |
G |
18: 37,802,932 (GRCm39) |
T259A |
possibly damaging |
Het |
Pde6a |
A |
T |
18: 61,398,105 (GRCm39) |
M702L |
probably benign |
Het |
Pigq |
A |
G |
17: 26,150,034 (GRCm39) |
|
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Ptch1 |
A |
C |
13: 63,670,818 (GRCm39) |
I904S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,964 (GRCm39) |
C141* |
probably null |
Het |
Rilpl1 |
C |
A |
5: 124,652,807 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,358,544 (GRCm39) |
S217P |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,586 (GRCm39) |
I1292F |
probably damaging |
Het |
Sema3a |
A |
C |
5: 13,631,066 (GRCm39) |
Y534S |
probably damaging |
Het |
Shank1 |
G |
T |
7: 43,983,464 (GRCm39) |
|
probably benign |
Het |
Slc45a4 |
G |
A |
15: 73,458,691 (GRCm39) |
S294F |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,313,316 (GRCm39) |
I393V |
possibly damaging |
Het |
Sod1 |
T |
A |
16: 90,019,732 (GRCm39) |
F46Y |
probably damaging |
Het |
Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
Syn3 |
T |
G |
10: 86,302,950 (GRCm39) |
K68N |
possibly damaging |
Het |
Taar8c |
C |
T |
10: 23,977,147 (GRCm39) |
V222I |
probably benign |
Het |
Tbx20 |
T |
C |
9: 24,670,129 (GRCm39) |
K235E |
probably damaging |
Het |
Tcaf3 |
C |
A |
6: 42,570,931 (GRCm39) |
E274* |
probably null |
Het |
Tll1 |
A |
T |
8: 64,523,233 (GRCm39) |
M493K |
probably benign |
Het |
Tmem236 |
T |
A |
2: 14,200,803 (GRCm39) |
S123T |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,238,963 (GRCm39) |
V647A |
possibly damaging |
Het |
Tspear |
T |
A |
10: 77,705,489 (GRCm39) |
Y296N |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,882,015 (GRCm39) |
K1187E |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,083 (GRCm39) |
V52I |
probably benign |
Het |
Zdhhc3 |
A |
T |
9: 122,929,452 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp955a |
A |
T |
17: 33,461,162 (GRCm39) |
C323* |
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 |
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'- AGCAGTCACTTTGATGCTGG -3'
(R):5'- GAAGTCTTGTGACAATGGAGC -3'
Sequencing Primer
(F):5'- CAGTCACTTTGATGCTGGCTGAG -3'
(R):5'- TTGTGACAATGGAGCATCCC -3'
|
Posted On |
2016-04-15 |