Incidental Mutation 'R7592:Sez6'
| ID |
587465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
045639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7592 (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 77868876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 976
(S976P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000646]
[ENSMUST00000049167]
[ENSMUST00000093995]
[ENSMUST00000108360]
|
| AlphaFold |
Q7TSK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000646
AA Change: S976P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: S976P
| 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 benign
Transcript: ENSMUST00000049167
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
PHD
|
58 |
103 |
7.23e-11 |
SMART |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:PHF12_MRG_bd
|
202 |
241 |
1.3e-21 |
PFAM |
|
PHD
|
273 |
319 |
1.66e-10 |
SMART |
|
low complexity region
|
616 |
630 |
N/A |
INTRINSIC |
|
Blast:FHA
|
813 |
868 |
9e-34 |
BLAST |
|
low complexity region
|
905 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093995
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
| 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: ENSMUST00000108360
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
PHD
|
58 |
103 |
7.23e-11 |
SMART |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
PDB:2L9S|A
|
201 |
241 |
2e-20 |
PDB |
|
PHD
|
273 |
319 |
1.66e-10 |
SMART |
|
low complexity region
|
616 |
630 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,667,138 (GRCm39) |
T204A |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,327,836 (GRCm39) |
T1415A |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 81,986,459 (GRCm39) |
T24A |
probably benign |
Het |
| Ankrd13b |
A |
C |
11: 77,367,327 (GRCm39) |
V194G |
probably benign |
Het |
| Aurkc |
C |
T |
7: 7,003,006 (GRCm39) |
T167I |
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,064,469 (GRCm39) |
Y10C |
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,152,724 (GRCm39) |
S14P |
possibly damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,298 (GRCm39) |
I40F |
probably damaging |
Het |
| Cers3 |
G |
A |
7: 66,439,377 (GRCm39) |
C296Y |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,776,861 (GRCm39) |
C505S |
possibly damaging |
Het |
| Col4a3 |
A |
G |
1: 82,626,338 (GRCm39) |
I92V |
unknown |
Het |
| Col5a3 |
T |
A |
9: 20,708,689 (GRCm39) |
H645L |
unknown |
Het |
| Crispld1 |
A |
T |
1: 17,798,990 (GRCm39) |
E37V |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,357,591 (GRCm39) |
Y1684C |
|
Het |
| Cstdc5 |
A |
T |
16: 36,187,862 (GRCm39) |
M1K |
probably null |
Het |
| Dcst1 |
C |
A |
3: 89,260,599 (GRCm39) |
S555I |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,499,060 (GRCm39) |
S70G |
possibly damaging |
Het |
| Elavl2 |
A |
T |
4: 91,199,808 (GRCm39) |
|
probably null |
Het |
| Emc1 |
A |
G |
4: 139,087,877 (GRCm39) |
H300R |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,083,669 (GRCm39) |
V322I |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,665,584 (GRCm39) |
N51D |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,114,150 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,136,036 (GRCm39) |
E579G |
probably benign |
Het |
| Hoxa4 |
T |
C |
6: 52,168,520 (GRCm39) |
H50R |
unknown |
Het |
| Htr7 |
T |
C |
19: 36,034,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ift43 |
G |
A |
12: 86,207,964 (GRCm39) |
D111N |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,630,722 (GRCm39) |
V863A |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,686 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,095,193 (GRCm39) |
K7E |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,364,436 (GRCm39) |
V371E |
probably damaging |
Het |
| Npr1 |
T |
G |
3: 90,372,323 (GRCm39) |
D163A |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,313,589 (GRCm39) |
I330V |
probably benign |
Het |
| Or2a20 |
T |
G |
6: 43,194,179 (GRCm39) |
C111G |
probably damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,020 (GRCm39) |
Y219F |
probably damaging |
Het |
| Or51l4 |
C |
A |
7: 103,404,279 (GRCm39) |
C171F |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,389,128 (GRCm39) |
M139I |
possibly damaging |
Het |
| Poc1a |
A |
T |
9: 106,226,967 (GRCm39) |
R402S |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,193,437 (GRCm39) |
V470L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,220,469 (GRCm39) |
E93G |
probably damaging |
Het |
| Psma1 |
A |
T |
7: 113,868,961 (GRCm39) |
M180K |
probably benign |
Het |
| Pudp |
A |
T |
18: 50,701,053 (GRCm39) |
F227I |
probably damaging |
Het |
| Rab15 |
T |
A |
12: 76,851,223 (GRCm39) |
Q60L |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,497 (GRCm39) |
|
probably null |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,540,802 (GRCm39) |
Y219C |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,831,889 (GRCm39) |
I213K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,881,005 (GRCm39) |
D516E |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,614,543 (GRCm39) |
D184G |
probably damaging |
Het |
| Tars3 |
G |
A |
7: 65,308,619 (GRCm39) |
S263N |
probably benign |
Het |
| Tmem181a |
C |
A |
17: 6,339,295 (GRCm39) |
T68K |
probably benign |
Het |
| Trav21-dv12 |
G |
T |
14: 54,113,997 (GRCm39) |
C39F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,173 (GRCm39) |
E745G |
probably damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,015,904 (GRCm39) |
F106I |
probably benign |
Het |
| Vmn1r39 |
C |
A |
6: 66,781,428 (GRCm39) |
V297L |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,811,443 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (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 |
|
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'- GCCTAGATACCTCTTCAGGACTG -3'
(R):5'- TGCCCCTGAATCCAAAGAAGG -3'
Sequencing Primer
(F):5'- AGATACCTCTTCAGGACTGGTTCC -3'
(R):5'- CTGAATCCAAAGAAGGGCCCG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation