Incidental Mutation 'R7408:Sez6'
| ID |
574863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
045489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77844356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 60
(T60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000646]
[ENSMUST00000093995]
|
| AlphaFold |
Q7TSK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000646
AA Change: T60A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: T60A
| 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: T60A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: T60A
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,860,030 (GRCm39) |
F299S |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,220 (GRCm39) |
E72D |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,391 (GRCm39) |
Q1654K |
unknown |
Het |
| Atp6v1f |
A |
C |
6: 29,470,194 (GRCm39) |
H96P |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,887,960 (GRCm39) |
V161A |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,796,610 (GRCm39) |
C320S |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,670,362 (GRCm39) |
K1031* |
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,460,894 (GRCm39) |
N92S |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,060,593 (GRCm39) |
V43A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,739 (GRCm39) |
L547P |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,742,184 (GRCm39) |
|
probably null |
Het |
| Dtnb |
T |
A |
12: 3,694,272 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,727,309 (GRCm39) |
N486D |
possibly damaging |
Het |
| Fes |
G |
A |
7: 80,028,410 (GRCm39) |
R736C |
probably damaging |
Het |
| Galr1 |
T |
G |
18: 82,411,990 (GRCm39) |
Y292S |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,405,988 (GRCm39) |
D80V |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,377,054 (GRCm39) |
C56R |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,718,909 (GRCm39) |
T313A |
probably damaging |
Het |
| Gpaa1 |
A |
T |
15: 76,217,193 (GRCm39) |
D236V |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,676,315 (GRCm39) |
S43P |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,738,202 (GRCm39) |
E295G |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,409,534 (GRCm39) |
K96R |
probably benign |
Het |
| Insm1 |
T |
A |
2: 146,064,711 (GRCm39) |
F176I |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,117 (GRCm39) |
E36G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,032,379 (GRCm39) |
V409A |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,073 (GRCm39) |
I925V |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,185 (GRCm39) |
S413P |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,389 (GRCm39) |
S205P |
probably damaging |
Het |
| Lrch3 |
C |
A |
16: 32,807,113 (GRCm39) |
S462* |
probably null |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,688 (GRCm39) |
I205V |
possibly damaging |
Het |
| Mark3 |
T |
G |
12: 111,600,223 (GRCm39) |
N479K |
probably damaging |
Het |
| Mrpl19 |
C |
T |
6: 81,942,793 (GRCm39) |
G39D |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,582,382 (GRCm39) |
Y497H |
probably benign |
Het |
| Msl2 |
T |
A |
9: 100,979,316 (GRCm39) |
D563E |
probably benign |
Het |
| Mta1 |
G |
A |
12: 113,095,088 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,529,272 (GRCm39) |
Q1401L |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,853,135 (GRCm39) |
L867P |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,652,013 (GRCm39) |
D200G |
unknown |
Het |
| Nos1 |
A |
C |
5: 118,005,583 (GRCm39) |
E101A |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,760,398 (GRCm39) |
I358T |
probably benign |
Het |
| Or11h6 |
A |
G |
14: 50,879,852 (GRCm39) |
E32G |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,546,859 (GRCm39) |
M263I |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,274 (GRCm39) |
S265P |
probably benign |
Het |
| Or4b1 |
T |
A |
2: 89,980,188 (GRCm39) |
H54L |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,493 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,222 (GRCm39) |
D948G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,755,218 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,079,537 (GRCm39) |
Y540N |
possibly damaging |
Het |
| Pkp4 |
T |
C |
2: 59,142,110 (GRCm39) |
L471P |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,977,143 (GRCm39) |
M109K |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,318,418 (GRCm39) |
N68S |
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,321,189 (GRCm39) |
D282V |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,040,944 (GRCm39) |
Y407H |
probably benign |
Het |
| Rab3ip |
T |
C |
10: 116,773,546 (GRCm39) |
D89G |
possibly damaging |
Het |
| Rad17 |
G |
A |
13: 100,766,019 (GRCm39) |
Q370* |
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,277 (GRCm39) |
C751R |
probably benign |
Het |
| Socs4 |
A |
G |
14: 47,527,296 (GRCm39) |
H77R |
probably benign |
Het |
| Srrm3 |
T |
A |
5: 135,881,060 (GRCm39) |
M120K |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,028,453 (GRCm39) |
I344F |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,672,725 (GRCm39) |
F989Y |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,612,108 (GRCm39) |
Q667L |
probably benign |
Het |
| Tspan17 |
T |
C |
13: 54,937,466 (GRCm39) |
F20S |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,711,359 (GRCm39) |
Q65* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,465,726 (GRCm39) |
I2765F |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,800,264 (GRCm39) |
V1954A |
|
Het |
| Xrn2 |
T |
A |
2: 146,884,017 (GRCm39) |
|
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
probably damaging |
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 |
|
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'- AAGATGGATCTCCTCCTGCCTG -3'
(R):5'- CTGGAGTCGGACTGGTAAAG -3'
Sequencing Primer
(F):5'- CTGGGTGGGATGCTGTTCAC -3'
(R):5'- TAAAGACGGGGCGGTTGTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation