Incidental Mutation 'R9630:Sez6'
| ID |
725450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9630 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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 |
|
| 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 |
|---|
| Aoc1l1 |
A |
G |
6: 48,952,756 (GRCm39) |
D227G |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,907,540 (GRCm39) |
M274T |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,456,757 (GRCm39) |
T128A |
possibly damaging |
Het |
| Bcr |
T |
A |
10: 74,966,950 (GRCm39) |
L519Q |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,587,571 (GRCm39) |
S306R |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,206,855 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc8 |
A |
G |
7: 16,728,733 (GRCm39) |
K74R |
possibly damaging |
Het |
| Cdc42ep2 |
C |
A |
19: 5,968,363 (GRCm39) |
G114V |
|
Het |
| Celsr3 |
T |
C |
9: 108,704,296 (GRCm39) |
S260P |
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,476 (GRCm39) |
T233I |
probably damaging |
Het |
| Clip2 |
C |
A |
5: 134,531,934 (GRCm39) |
D624Y |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,393,281 (GRCm39) |
S221P |
probably benign |
Het |
| Creb3l2 |
G |
T |
6: 37,356,808 (GRCm39) |
S86R |
possibly damaging |
Het |
| Cspp1 |
G |
A |
1: 10,108,292 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Efnb2 |
T |
C |
8: 8,670,617 (GRCm39) |
S328G |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,518,844 (GRCm39) |
L335P |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,717,572 (GRCm39) |
V48D |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,147,605 (GRCm39) |
V3879G |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,624 (GRCm39) |
L181P |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,926,438 (GRCm38) |
Y1827* |
probably null |
Het |
| Fuca2 |
A |
T |
10: 13,378,820 (GRCm39) |
Y71F |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,741,349 (GRCm39) |
H1463N |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,924,909 (GRCm39) |
A48T |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,666,591 (GRCm39) |
D385G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,512,971 (GRCm39) |
|
probably null |
Het |
| Kdm7a |
A |
T |
6: 39,150,239 (GRCm39) |
S178T |
probably damaging |
Het |
| Mmp12 |
T |
A |
9: 7,347,516 (GRCm39) |
M31K |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,415 (GRCm39) |
R311H |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,407,988 (GRCm39) |
C3159S |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,302,470 (GRCm39) |
V346A |
probably damaging |
Het |
| Nfkbib |
A |
T |
7: 28,461,304 (GRCm39) |
Y114* |
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,998,285 (GRCm39) |
D76E |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,943,397 (GRCm39) |
R4251C |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,653 (GRCm39) |
I174T |
probably damaging |
Het |
| Or4a74 |
C |
A |
2: 89,440,349 (GRCm39) |
M32I |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,493 (GRCm39) |
M186V |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,410 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8h7 |
A |
C |
2: 86,720,956 (GRCm39) |
S188A |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,109 (GRCm39) |
I416N |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,374,443 (GRCm39) |
D1897E |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,591 (GRCm39) |
F802I |
probably benign |
Het |
| Pik3c2g |
C |
A |
6: 139,599,237 (GRCm39) |
Q118K |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,947,147 (GRCm39) |
M1009V |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,370,550 (GRCm39) |
D59E |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,564,919 (GRCm39) |
D152G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,020,810 (GRCm39) |
V611A |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,596,408 (GRCm39) |
S811P |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,316,049 (GRCm39) |
P1172S |
probably damaging |
Het |
| Sel1l3 |
T |
G |
5: 53,342,117 (GRCm39) |
N368H |
possibly damaging |
Het |
| Sele |
C |
A |
1: 163,879,523 (GRCm39) |
P352Q |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,852 (GRCm39) |
T268S |
probably benign |
Het |
| Sis |
A |
T |
3: 72,828,722 (GRCm39) |
N1152K |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,597 (GRCm39) |
E411G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,379,390 (GRCm39) |
N459S |
possibly damaging |
Het |
| Srpk1 |
C |
A |
17: 28,819,404 (GRCm39) |
K268N |
probably benign |
Het |
| Ssbp3 |
A |
G |
4: 106,895,426 (GRCm39) |
Y258C |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,939,426 (GRCm39) |
P621S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,077,781 (GRCm39) |
Q61R |
unknown |
Het |
| Strn3 |
G |
A |
12: 51,657,013 (GRCm39) |
T755I |
probably damaging |
Het |
| Taf4b |
C |
G |
18: 14,930,077 (GRCm39) |
P150A |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,223,815 (GRCm39) |
H201Q |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,710,354 (GRCm39) |
E728G |
probably benign |
Het |
| Tshr |
C |
T |
12: 91,504,409 (GRCm39) |
P449L |
probably damaging |
Het |
| Ugt2b36 |
C |
T |
5: 87,239,773 (GRCm39) |
G204D |
possibly damaging |
Het |
| Vldlr |
A |
T |
19: 27,207,623 (GRCm39) |
Q37L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 67,990,793 (GRCm39) |
I1031N |
probably benign |
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 |
|
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 |
|
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'- AGCTCAGTGTGATTGATATTTCTCC -3'
(R):5'- TACATCCCCAGAGCCTATGC -3'
Sequencing Primer
(F):5'- TACTTCTGTGGGCAGGTGAAAGC -3'
(R):5'- CGCAGCCTGTAGAGGAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation