Incidental Mutation 'R6897:Sez6'
| ID |
538412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6
|
| Ensembl Gene |
ENSMUSG00000000632 |
| Gene Name |
seizure related gene 6 |
| Synonyms |
sez-6, D11Bhm177e |
| MMRRC Submission |
044991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77821626-77869874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 77844385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 69
(H69Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000646]
[ENSMUST00000093995]
|
| AlphaFold |
Q7TSK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000646
AA Change: H69Q
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: H69Q
| 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: H69Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: H69Q
| 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: 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: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
97% (72/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,534 (GRCm39) |
I28V |
possibly damaging |
Het |
| Adamts2 |
A |
T |
11: 50,627,991 (GRCm39) |
|
probably null |
Het |
| Adgrg1 |
T |
C |
8: 95,729,126 (GRCm39) |
F17L |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,539,789 (GRCm39) |
L183P |
probably damaging |
Het |
| Alg5 |
T |
C |
3: 54,656,063 (GRCm39) |
C270R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,720,160 (GRCm39) |
|
probably null |
Het |
| Armc2 |
C |
A |
10: 41,869,225 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
G |
19: 58,030,800 (GRCm39) |
N1314S |
probably benign |
Het |
| Bbs7 |
T |
A |
3: 36,652,460 (GRCm39) |
E331V |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,285,225 (GRCm39) |
V258E |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,939,139 (GRCm39) |
I671F |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,920,376 (GRCm39) |
S508P |
probably damaging |
Het |
| Cd177 |
C |
T |
7: 24,444,499 (GRCm39) |
R694H |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,369,751 (GRCm39) |
Q386H |
possibly damaging |
Het |
| Cnrip1 |
A |
G |
11: 17,004,705 (GRCm39) |
Y85C |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,739,070 (GRCm39) |
F310I |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,984,562 (GRCm39) |
K186R |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 49,996,124 (GRCm39) |
Q417K |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,740,220 (GRCm39) |
D67G |
possibly damaging |
Het |
| Elovl4 |
T |
C |
9: 83,665,278 (GRCm39) |
I103V |
probably benign |
Het |
| Gabpa |
C |
G |
16: 84,657,361 (GRCm39) |
A412G |
probably benign |
Het |
| Gldn |
T |
A |
9: 54,242,158 (GRCm39) |
|
probably null |
Het |
| Ino80d |
A |
T |
1: 63,104,993 (GRCm39) |
I361N |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 33,796,073 (GRCm39) |
T1234M |
probably damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,028,026 (GRCm39) |
M367K |
probably benign |
Het |
| Klrd1 |
G |
A |
6: 129,570,468 (GRCm39) |
R8Q |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,758,942 (GRCm39) |
N969S |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,768,315 (GRCm39) |
D438G |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,039,840 (GRCm39) |
L684P |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,340,846 (GRCm39) |
M1010V |
probably benign |
Het |
| Magi3 |
C |
A |
3: 103,996,873 (GRCm39) |
R224I |
probably damaging |
Het |
| Mier2 |
T |
C |
10: 79,380,573 (GRCm39) |
N277S |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,171,112 (GRCm39) |
H17R |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,749,878 (GRCm39) |
S265T |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,700 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,024 (GRCm39) |
T246I |
possibly damaging |
Het |
| Palb2 |
A |
G |
7: 121,726,270 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
C |
T |
15: 12,385,951 (GRCm39) |
V940M |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,598,138 (GRCm39) |
K850E |
probably damaging |
Het |
| Pitx1 |
G |
A |
13: 55,976,335 (GRCm39) |
T108M |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pomp |
T |
A |
5: 147,812,313 (GRCm39) |
M133K |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,423,913 (GRCm39) |
E993G |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,075 (GRCm39) |
|
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,007,917 (GRCm39) |
Q879H |
probably damaging |
Het |
| Rab26 |
G |
A |
17: 24,748,766 (GRCm39) |
T245I |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,592,514 (GRCm39) |
D502G |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,550,421 (GRCm39) |
D153E |
probably benign |
Het |
| Sgsm3 |
A |
T |
15: 80,893,095 (GRCm39) |
T391S |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,234,670 (GRCm39) |
V151A |
possibly damaging |
Het |
| Socs1 |
G |
T |
16: 10,602,266 (GRCm39) |
A157E |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,566,145 (GRCm39) |
Q110L |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,071,375 (GRCm39) |
V346L |
possibly damaging |
Het |
| Srgap1 |
T |
A |
10: 121,621,523 (GRCm39) |
H990L |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,892,809 (GRCm39) |
G36W |
probably damaging |
Het |
| Tbk1 |
T |
C |
10: 121,395,782 (GRCm39) |
E437G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,481,743 (GRCm39) |
L203P |
probably damaging |
Het |
| Tspoap1 |
A |
T |
11: 87,656,638 (GRCm39) |
K283M |
probably damaging |
Het |
| Ttyh1 |
C |
T |
7: 4,127,649 (GRCm39) |
|
probably benign |
Het |
| Ufd1 |
T |
A |
16: 18,645,850 (GRCm39) |
I254N |
probably benign |
Het |
| Ugdh |
T |
G |
5: 65,584,776 (GRCm39) |
T49P |
probably benign |
Het |
| Vav3 |
T |
C |
3: 109,434,810 (GRCm39) |
L447P |
probably damaging |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,445 (GRCm39) |
K43* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,015 (GRCm39) |
I521T |
possibly damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,991,932 (GRCm39) |
T3470A |
probably benign |
Het |
| Wdhd1 |
T |
A |
14: 47,485,587 (GRCm39) |
K791N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,338,911 (GRCm39) |
D384G |
probably damaging |
Het |
| Zfp512b |
C |
T |
2: 181,232,273 (GRCm39) |
R86Q |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,880 (GRCm39) |
I275L |
probably benign |
Het |
| Zfp957 |
A |
T |
14: 79,451,344 (GRCm39) |
S152T |
probably 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 |
|
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 |
|
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'- CAAGAGAGCCTCTGATCATTCATTC -3'
(R):5'- AGGTTCCAAGGTTTCTCCCTG -3'
Sequencing Primer
(F):5'- CATTCATTCTTATTTCAGGACTCTCC -3'
(R):5'- CAAGGTTTCTCCCTGGAGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation