Incidental Mutation 'R7778:Sez6'
| ID |
599013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
045834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77865375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 671
(S671P)
|
| 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: S671P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: S671P
| 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: S671P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: S671P
| 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.8943 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,569,855 (GRCm39) |
S524P |
possibly damaging |
Het |
| Aplf |
A |
C |
6: 87,635,184 (GRCm39) |
|
probably null |
Het |
| Asb5 |
A |
C |
8: 55,037,827 (GRCm39) |
H173P |
|
Het |
| Atp6v0a2 |
A |
G |
5: 124,779,443 (GRCm39) |
E186G |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,816,388 (GRCm39) |
|
probably null |
Het |
| Chrm5 |
A |
G |
2: 112,310,301 (GRCm39) |
S272P |
probably benign |
Het |
| Chrna6 |
T |
C |
8: 27,897,392 (GRCm39) |
I162V |
probably damaging |
Het |
| Cldn6 |
T |
A |
17: 23,900,581 (GRCm39) |
C182S |
probably damaging |
Het |
| Cysltr2 |
A |
G |
14: 73,267,203 (GRCm39) |
I169T |
probably benign |
Het |
| Ddx11 |
T |
C |
17: 66,437,543 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
T |
1: 21,049,685 (GRCm39) |
Y515F |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,773,812 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
C |
15: 81,470,887 (GRCm39) |
S20P |
unknown |
Het |
| Gfpt2 |
T |
G |
11: 49,715,268 (GRCm39) |
I421R |
probably damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,630 (GRCm39) |
C196S |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,671 (GRCm39) |
R615G |
possibly damaging |
Het |
| Hic1 |
C |
T |
11: 75,057,042 (GRCm39) |
V616M |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,611,814 (GRCm39) |
E178G |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,387,758 (GRCm39) |
L530H |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,511,768 (GRCm39) |
L120* |
probably null |
Het |
| Kcnt1 |
T |
G |
2: 25,791,901 (GRCm39) |
I617S |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,111,468 (GRCm39) |
S2240T |
|
Het |
| Lcn2 |
T |
C |
2: 32,277,927 (GRCm39) |
D55G |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Matn2 |
A |
T |
15: 34,399,223 (GRCm39) |
H370L |
possibly damaging |
Het |
| Mettl23 |
T |
G |
11: 116,740,096 (GRCm39) |
V189G |
probably benign |
Het |
| Mpp4 |
G |
A |
1: 59,162,672 (GRCm39) |
T543M |
not run |
Het |
| Odf4 |
A |
T |
11: 68,812,898 (GRCm39) |
S253R |
probably benign |
Het |
| Or10d4 |
C |
A |
9: 39,580,534 (GRCm39) |
F60L |
possibly damaging |
Het |
| Or11h23 |
G |
T |
14: 50,947,928 (GRCm39) |
C47F |
possibly damaging |
Het |
| Or7d9 |
A |
G |
9: 20,193,708 (GRCm39) |
|
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,963 (GRCm39) |
I287N |
probably damaging |
Het |
| Or8g21 |
T |
A |
9: 38,906,203 (GRCm39) |
H176L |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,733 (GRCm39) |
Y608F |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,578 (GRCm39) |
D342G |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,471,250 (GRCm39) |
S143P |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,061,135 (GRCm39) |
I2934N |
probably damaging |
Het |
| Primpol |
G |
T |
8: 47,039,459 (GRCm39) |
P387Q |
probably damaging |
Het |
| Prkcd |
C |
T |
14: 30,327,772 (GRCm39) |
|
probably null |
Het |
| Prph2 |
T |
C |
17: 47,221,732 (GRCm39) |
L37S |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,177,718 (GRCm39) |
L17P |
probably damaging |
Het |
| Pycr3 |
T |
C |
15: 75,790,138 (GRCm39) |
D171G |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,875,293 (GRCm39) |
T359A |
probably benign |
Het |
| Setd6 |
A |
T |
8: 96,442,866 (GRCm39) |
H101L |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,416 (GRCm39) |
L721S |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,047 (GRCm39) |
R732W |
possibly damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,302,618 (GRCm39) |
F328I |
probably damaging |
Het |
| Tfap2b |
G |
A |
1: 19,304,531 (GRCm39) |
G447D |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,611,591 (GRCm39) |
F232C |
probably damaging |
Het |
| Tmem69 |
A |
G |
4: 116,410,595 (GRCm39) |
L125P |
probably damaging |
Het |
| Tnfsf13 |
C |
T |
11: 69,575,989 (GRCm39) |
V33M |
probably damaging |
Het |
| Togaram2 |
T |
A |
17: 72,011,746 (GRCm39) |
M476K |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,018,294 (GRCm39) |
I124V |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,576,100 (GRCm39) |
I462N |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,362,354 (GRCm39) |
R2660C |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,836,773 (GRCm39) |
T2924A |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,942 (GRCm39) |
Y79C |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,275,587 (GRCm39) |
V790A |
probably benign |
Het |
| Zfp874b |
A |
G |
13: 67,622,093 (GRCm39) |
F402L |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,720 (GRCm39) |
T396A |
possibly damaging |
Het |
| Zfp978 |
T |
C |
4: 147,469,760 (GRCm39) |
|
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 |
|
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 |
|
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'- GACATCCGAGTGTGAGTGAC -3'
(R):5'- GGCATCCAGACTCCCTATTG -3'
Sequencing Primer
(F):5'- TGAGACTGGGGACACCTCTAGTC -3'
(R):5'- GTCTTGCACCGTTTGACTAGTCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation