Incidental Mutation 'R9094:Sez6'
| ID |
691232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
068909-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9094 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77865121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 623
(E623K)
|
| 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: E623K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: E623K
| 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 |
possibly damaging
Transcript: ENSMUST00000093995
AA Change: E623K
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: E623K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: E250K
| 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 |
probably null
Transcript: ENSMUST00000151982
AA Change: W437*
|
| SMART Domains |
Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
AA Change: W437*
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (67/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110021N24Rik |
T |
C |
4: 108,637,744 (GRCm39) |
V37A |
unknown |
Het |
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abi3bp |
A |
G |
16: 56,456,590 (GRCm39) |
I1021V |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,253,264 (GRCm39) |
K1848N |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,283 (GRCm39) |
V1005A |
probably benign |
Het |
| Arb2a |
A |
G |
13: 78,311,725 (GRCm39) |
K356R |
possibly damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,327 (GRCm39) |
Y40H |
probably damaging |
Het |
| Bco1 |
A |
C |
8: 117,859,917 (GRCm39) |
D540A |
probably benign |
Het |
| Blnk |
A |
G |
19: 40,982,482 (GRCm39) |
I7T |
probably benign |
Het |
| Brca2 |
T |
G |
5: 150,475,770 (GRCm39) |
D2493E |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,988,052 (GRCm39) |
M2567L |
unknown |
Het |
| Cacna1e |
T |
A |
1: 154,355,064 (GRCm39) |
Y693F |
possibly damaging |
Het |
| Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
| Cpa4 |
G |
T |
6: 30,574,393 (GRCm39) |
D61Y |
possibly damaging |
Het |
| Cpne1 |
A |
C |
2: 155,921,080 (GRCm39) |
V70G |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,987,306 (GRCm38) |
N81K |
probably damaging |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fbxo34 |
C |
G |
14: 47,767,928 (GRCm39) |
H480Q |
probably benign |
Het |
| Frmd4b |
T |
C |
6: 97,398,559 (GRCm39) |
E96G |
|
Het |
| Gdpgp1 |
T |
A |
7: 79,888,216 (GRCm39) |
D82E |
probably benign |
Het |
| Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
| Grpel1 |
A |
G |
5: 36,626,823 (GRCm39) |
N35S |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,273,291 (GRCm39) |
T665A |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,301,559 (GRCm39) |
T886A |
probably benign |
Het |
| Insig1 |
T |
A |
5: 28,278,570 (GRCm39) |
C128* |
probably null |
Het |
| Kcnk10 |
T |
A |
12: 98,484,775 (GRCm39) |
E120D |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,195,369 (GRCm39) |
N418S |
possibly damaging |
Het |
| Kifbp |
A |
G |
10: 62,395,037 (GRCm39) |
V535A |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,933,055 (GRCm39) |
H251L |
probably damaging |
Het |
| Ldlrad3 |
T |
C |
2: 101,888,326 (GRCm39) |
D127G |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,182 (GRCm39) |
Y388C |
probably damaging |
Het |
| Lrrc4 |
G |
A |
6: 28,830,206 (GRCm39) |
R47W |
possibly damaging |
Het |
| Luzp1 |
A |
T |
4: 136,272,562 (GRCm39) |
D1022V |
probably damaging |
Het |
| Mllt1 |
C |
A |
17: 57,212,737 (GRCm39) |
R132L |
probably damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,494 (GRCm39) |
H618N |
possibly damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,861 (GRCm39) |
S318P |
probably damaging |
Het |
| Ngly1 |
A |
C |
14: 16,280,721 (GRCm38) |
T301P |
probably damaging |
Het |
| Npy5r |
G |
A |
8: 67,133,560 (GRCm39) |
T411I |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,568 (GRCm39) |
E138G |
possibly damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,248 (GRCm39) |
N113S |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,593 (GRCm39) |
I262N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pm20d1 |
C |
A |
1: 131,730,481 (GRCm39) |
A245D |
possibly damaging |
Het |
| Rars1 |
T |
C |
11: 35,718,182 (GRCm39) |
|
probably benign |
Het |
| Rbms2 |
T |
A |
10: 127,987,107 (GRCm39) |
I62F |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,700,809 (GRCm39) |
T1769S |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,854 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,500,240 (GRCm39) |
I26F |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
A |
T |
6: 83,128,018 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,708 (GRCm39) |
I379F |
possibly damaging |
Het |
| Slmap |
T |
C |
14: 26,137,355 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,975,050 (GRCm39) |
N519K |
possibly damaging |
Het |
| Srebf2 |
A |
T |
15: 82,056,975 (GRCm39) |
I237F |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,651 (GRCm39) |
S1479G |
possibly damaging |
Het |
| Tbc1d24 |
C |
A |
17: 24,400,274 (GRCm39) |
E537* |
probably null |
Het |
| Ttf1 |
T |
A |
2: 28,957,080 (GRCm39) |
I450K |
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,893,288 (GRCm38) |
S2P |
unknown |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vmn2r25 |
C |
T |
6: 123,805,391 (GRCm39) |
V489I |
probably benign |
Het |
| Wfdc8 |
C |
T |
2: 164,439,245 (GRCm39) |
R379H |
unknown |
Het |
| Zeb2 |
C |
T |
2: 45,003,136 (GRCm39) |
|
probably benign |
Het |
| Zfp3 |
C |
T |
11: 70,663,241 (GRCm39) |
T400I |
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,932 (GRCm39) |
I369T |
possibly 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 |
|
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 |
|
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'- GCTCAGTGTGATTGATATTTCTCC -3'
(R):5'- CAGTACATCCCCAGAGCCTATG -3'
Sequencing Primer
(F):5'- TACTTCTGTGGGCAGGTGAAAGC -3'
(R):5'- CCAGAGCCTATGCGCAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation