Incidental Mutation 'R1117:Sez6'
| ID |
97440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
D11Bhm177e, sez-6 |
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77930800-77979048 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77974514 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 659
(Y659C)
|
| 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: Y659C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: Y659C
| 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: Y659C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: Y659C
| 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 |
noncoding transcript
Transcript: ENSMUST00000126866
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000142542
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155087
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,508,623 |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,125,754 |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 148,934,595 |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,492,017 |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,127,973 |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,261 |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,749,622 |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,280,924 |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,712,459 |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,842,311 |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,634,563 |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,803,663 |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,127,318 |
|
noncoding transcript |
Het |
| Gm9573 |
T |
C |
17: 35,620,028 |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,417,778 |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,295,625 |
M8I |
probably benign |
Het |
| Klk1b22 |
A |
T |
7: 44,116,859 |
M255L |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,976,325 |
I530K |
possibly damaging |
Het |
| Nid2 |
A |
C |
14: 19,763,664 |
|
probably null |
Het |
| Olfr311 |
A |
G |
11: 58,841,815 |
K234E |
possibly damaging |
Het |
| Olfr63 |
C |
T |
17: 33,268,966 |
R81* |
probably null |
Het |
| Olfr981 |
T |
C |
9: 40,022,762 |
F123S |
probably damaging |
Het |
| Peak1 |
G |
A |
9: 56,258,418 |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,172,607 |
T469S |
probably benign |
Het |
| Slc19a2 |
A |
T |
1: 164,263,456 |
I278F |
possibly damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,146,180 |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,574,652 |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,844,977 |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,477,306 |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,616,387 |
T43A |
probably benign |
Het |
|
| Other mutations in Sez6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Sez6
|
APN |
11 |
77977289 |
splice site |
probably benign |
|
|
IGL01142:Sez6
|
APN |
11 |
77973816 |
missense |
probably damaging |
1.00 |
|
IGL02252:Sez6
|
APN |
11 |
77974513 |
missense |
probably damaging |
1.00 |
|
IGL02332:Sez6
|
APN |
11 |
77954742 |
splice site |
probably benign |
|
|
IGL02366:Sez6
|
APN |
11 |
77976882 |
missense |
probably damaging |
0.98 |
|
IGL02479:Sez6
|
APN |
11 |
77978026 |
missense |
possibly damaging |
0.84 |
|
IGL02963:Sez6
|
APN |
11 |
77962949 |
missense |
possibly damaging |
0.93 |
|
velum
|
UTSW |
11 |
77974549 |
missense |
probably damaging |
1.00 |
|
R0054:Sez6
|
UTSW |
11 |
77953873 |
missense |
possibly damaging |
0.94 |
|
R0054:Sez6
|
UTSW |
11 |
77953873 |
missense |
possibly damaging |
0.94 |
|
R0089:Sez6
|
UTSW |
11 |
77974344 |
splice site |
probably benign |
|
|
R0485:Sez6
|
UTSW |
11 |
77953813 |
missense |
probably damaging |
1.00 |
|
R0598:Sez6
|
UTSW |
11 |
77977821 |
missense |
possibly damaging |
0.88 |
|
R0729:Sez6
|
UTSW |
11 |
77976585 |
missense |
probably benign |
0.01 |
|
R1199:Sez6
|
UTSW |
11 |
77953885 |
missense |
probably benign |
|
|
R1534:Sez6
|
UTSW |
11 |
77963045 |
missense |
probably damaging |
1.00 |
|
R1835:Sez6
|
UTSW |
11 |
77953503 |
missense |
probably benign |
|
|
R1840:Sez6
|
UTSW |
11 |
77953717 |
missense |
possibly damaging |
0.79 |
|
R1929:Sez6
|
UTSW |
11 |
77972932 |
missense |
probably damaging |
1.00 |
|
R1970:Sez6
|
UTSW |
11 |
77954068 |
critical splice donor site |
probably null |
|
|
R3156:Sez6
|
UTSW |
11 |
77953779 |
missense |
possibly damaging |
0.63 |
|
R3930:Sez6
|
UTSW |
11 |
77976882 |
missense |
probably damaging |
0.98 |
|
R3931:Sez6
|
UTSW |
11 |
77976882 |
missense |
probably damaging |
0.98 |
|
R4894:Sez6
|
UTSW |
11 |
77975260 |
missense |
probably damaging |
1.00 |
|
R4904:Sez6
|
UTSW |
11 |
77975254 |
missense |
probably damaging |
1.00 |
|
R5026:Sez6
|
UTSW |
11 |
77968989 |
missense |
probably damaging |
1.00 |
|
R5040:Sez6
|
UTSW |
11 |
77969089 |
critical splice donor site |
probably null |
|
|
R5057:Sez6
|
UTSW |
11 |
77973153 |
missense |
probably damaging |
1.00 |
|
R5093:Sez6
|
UTSW |
11 |
77976562 |
missense |
possibly damaging |
0.88 |
|
R5640:Sez6
|
UTSW |
11 |
77973759 |
intron |
probably benign |
|
|
R6013:Sez6
|
UTSW |
11 |
77973797 |
missense |
probably damaging |
1.00 |
|
R6126:Sez6
|
UTSW |
11 |
77973804 |
missense |
probably damaging |
1.00 |
|
R6153:Sez6
|
UTSW |
11 |
77977822 |
missense |
probably damaging |
0.99 |
|
R6279:Sez6
|
UTSW |
11 |
77976541 |
missense |
possibly damaging |
0.63 |
|
R6300:Sez6
|
UTSW |
11 |
77976541 |
missense |
possibly damaging |
0.63 |
|
R6475:Sez6
|
UTSW |
11 |
77973844 |
|
|
|
|
R6722:Sez6
|
UTSW |
11 |
77953702 |
missense |
probably damaging |
1.00 |
|
R6897:Sez6
|
UTSW |
11 |
77953559 |
missense |
probably damaging |
1.00 |
|
R6910:Sez6
|
UTSW |
11 |
77953869 |
missense |
possibly damaging |
0.85 |
|
R7012:Sez6
|
UTSW |
11 |
77977795 |
missense |
probably benign |
0.04 |
|
R7233:Sez6
|
UTSW |
11 |
77973137 |
missense |
probably damaging |
1.00 |
|
R7265:Sez6
|
UTSW |
11 |
77962865 |
missense |
probably damaging |
0.96 |
|
R7289:Sez6
|
UTSW |
11 |
77974323 |
missense |
possibly damaging |
0.96 |
|
R7405:Sez6
|
UTSW |
11 |
77962891 |
missense |
probably benign |
0.10 |
|
R7408:Sez6
|
UTSW |
11 |
77953530 |
missense |
probably damaging |
1.00 |
|
R7485:Sez6
|
UTSW |
11 |
77973885 |
missense |
probably benign |
0.01 |
|
R7592:Sez6
|
UTSW |
11 |
77978050 |
missense |
probably damaging |
0.99 |
|
R7778:Sez6
|
UTSW |
11 |
77974549 |
missense |
probably damaging |
1.00 |
|
R7793:Sez6
|
UTSW |
11 |
77977600 |
missense |
probably damaging |
1.00 |
|
R7818:Sez6
|
UTSW |
11 |
77976902 |
missense |
probably damaging |
1.00 |
|
R7824:Sez6
|
UTSW |
11 |
77974549 |
missense |
probably damaging |
1.00 |
|
R7980:Sez6
|
UTSW |
11 |
77953842 |
missense |
probably benign |
0.34 |
|
R8008:Sez6
|
UTSW |
11 |
77973256 |
nonsense |
probably null |
|
|
R8840:Sez6
|
UTSW |
11 |
77976487 |
missense |
probably damaging |
1.00 |
|
R8947:Sez6
|
UTSW |
11 |
77953527 |
missense |
probably damaging |
1.00 |
|
R8973:Sez6
|
UTSW |
11 |
77974571 |
missense |
probably damaging |
1.00 |
|
R9040:Sez6
|
UTSW |
11 |
77973936 |
missense |
probably benign |
|
|
R9081:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9082:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9092:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9094:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9095:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9097:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9169:Sez6
|
UTSW |
11 |
77977647 |
missense |
probably damaging |
0.96 |
|
R9513:Sez6
|
UTSW |
11 |
77974583 |
missense |
probably damaging |
1.00 |
|
R9630:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9632:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
R9646:Sez6
|
UTSW |
11 |
77976806 |
missense |
probably damaging |
0.99 |
|
R9709:Sez6
|
UTSW |
11 |
77974295 |
missense |
possibly damaging |
0.83 |
|
X0013:Sez6
|
UTSW |
11 |
77954780 |
missense |
probably benign |
0.01 |
|
X0067:Sez6
|
UTSW |
11 |
77974438 |
critical splice acceptor site |
probably null |
|
|
Z1088:Sez6
|
UTSW |
11 |
77973197 |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCGCATCATGCTGGACATC -3'
(R):5'- GCTTTGGCTCTACTCTCAGAAGCAC -3'
Sequencing Primer
(F):5'- ATCATGCTGGACATCCGAGTG -3'
(R):5'- CCAAAGTCTCCTGGTGATACATGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation