Incidental Mutation 'IGL03180:Sez6l'
ID |
412200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sez6l
|
Ensembl Gene |
ENSMUSG00000058153 |
Gene Name |
seizure related 6 homolog like |
Synonyms |
Acig1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03180
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112584151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 806
(V806D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
AlphaFold |
Q6P1D5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075387
AA Change: V806D
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153 AA Change: V806D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
CUB
|
221 |
329 |
3.62e-8 |
SMART |
CCP
|
333 |
388 |
1.01e-11 |
SMART |
CUB
|
392 |
502 |
3.75e-15 |
SMART |
CCP
|
507 |
564 |
1.41e-10 |
SMART |
CUB
|
568 |
679 |
4.87e-23 |
SMART |
CCP
|
685 |
740 |
4.95e-15 |
SMART |
CCP
|
746 |
805 |
3.07e-11 |
SMART |
CCP
|
813 |
870 |
8.04e-15 |
SMART |
low complexity region
|
880 |
891 |
N/A |
INTRINSIC |
transmembrane domain
|
895 |
917 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079491
AA Change: V806D
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153 AA Change: V806D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
CUB
|
221 |
329 |
3.62e-8 |
SMART |
CCP
|
333 |
388 |
1.01e-11 |
SMART |
CUB
|
392 |
502 |
3.75e-15 |
SMART |
CCP
|
507 |
564 |
1.41e-10 |
SMART |
CUB
|
568 |
679 |
4.87e-23 |
SMART |
CCP
|
685 |
740 |
4.95e-15 |
SMART |
CCP
|
746 |
805 |
3.07e-11 |
SMART |
CCP
|
813 |
870 |
8.04e-15 |
SMART |
low complexity region
|
878 |
892 |
N/A |
INTRINSIC |
transmembrane domain
|
896 |
918 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197425
AA Change: V806D
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153 AA Change: V806D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
47 |
59 |
N/A |
INTRINSIC |
low complexity region
|
191 |
215 |
N/A |
INTRINSIC |
CUB
|
221 |
329 |
3.62e-8 |
SMART |
CCP
|
333 |
388 |
1.01e-11 |
SMART |
CUB
|
392 |
502 |
3.75e-15 |
SMART |
CCP
|
507 |
564 |
1.41e-10 |
SMART |
CUB
|
568 |
679 |
4.87e-23 |
SMART |
CCP
|
685 |
740 |
4.95e-15 |
SMART |
CCP
|
746 |
805 |
3.07e-11 |
SMART |
low complexity region
|
815 |
826 |
N/A |
INTRINSIC |
transmembrane domain
|
830 |
852 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200575
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212480
AA Change: V806D
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: V806D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
probably damaging |
Het |
|
Other mutations in Sez6l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Sez6l
|
APN |
5 |
112,572,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00494:Sez6l
|
APN |
5 |
112,610,869 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00693:Sez6l
|
APN |
5 |
112,569,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01146:Sez6l
|
APN |
5 |
112,576,275 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01382:Sez6l
|
APN |
5 |
112,573,487 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01393:Sez6l
|
APN |
5 |
112,586,261 (GRCm39) |
splice site |
probably benign |
|
IGL01961:Sez6l
|
APN |
5 |
112,619,597 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02101:Sez6l
|
APN |
5 |
112,620,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02104:Sez6l
|
APN |
5 |
112,574,630 (GRCm39) |
intron |
probably benign |
|
IGL02316:Sez6l
|
APN |
5 |
112,610,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02965:Sez6l
|
APN |
5 |
112,623,440 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03102:Sez6l
|
APN |
5 |
112,623,269 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03112:Sez6l
|
APN |
5 |
112,621,333 (GRCm39) |
missense |
probably damaging |
1.00 |
ranger
|
UTSW |
5 |
112,724,678 (GRCm39) |
splice site |
probably null |
|
R0245:Sez6l
|
UTSW |
5 |
112,623,432 (GRCm39) |
missense |
probably benign |
|
R0662:Sez6l
|
UTSW |
5 |
112,621,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R1227:Sez6l
|
UTSW |
5 |
112,621,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1605:Sez6l
|
UTSW |
5 |
112,622,915 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Sez6l
|
UTSW |
5 |
112,621,276 (GRCm39) |
splice site |
probably benign |
|
R1878:Sez6l
|
UTSW |
5 |
112,623,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R1892:Sez6l
|
UTSW |
5 |
112,620,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Sez6l
|
UTSW |
5 |
112,572,481 (GRCm39) |
splice site |
probably benign |
|
R2038:Sez6l
|
UTSW |
5 |
112,620,618 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2212:Sez6l
|
UTSW |
5 |
112,623,227 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2315:Sez6l
|
UTSW |
5 |
112,612,463 (GRCm39) |
missense |
probably benign |
0.02 |
R2343:Sez6l
|
UTSW |
5 |
112,612,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R3412:Sez6l
|
UTSW |
5 |
112,623,227 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3413:Sez6l
|
UTSW |
5 |
112,623,227 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3423:Sez6l
|
UTSW |
5 |
112,574,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R3425:Sez6l
|
UTSW |
5 |
112,574,615 (GRCm39) |
missense |
probably damaging |
0.99 |
R4081:Sez6l
|
UTSW |
5 |
112,609,032 (GRCm39) |
missense |
probably benign |
0.01 |
R4574:Sez6l
|
UTSW |
5 |
112,576,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Sez6l
|
UTSW |
5 |
112,569,890 (GRCm39) |
nonsense |
probably null |
|
R5864:Sez6l
|
UTSW |
5 |
112,586,266 (GRCm39) |
critical splice donor site |
probably null |
|
R6236:Sez6l
|
UTSW |
5 |
112,623,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6274:Sez6l
|
UTSW |
5 |
112,623,231 (GRCm39) |
nonsense |
probably null |
|
R6466:Sez6l
|
UTSW |
5 |
112,609,007 (GRCm39) |
splice site |
probably null |
|
R6574:Sez6l
|
UTSW |
5 |
112,724,692 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7008:Sez6l
|
UTSW |
5 |
112,612,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Sez6l
|
UTSW |
5 |
112,621,346 (GRCm39) |
missense |
probably benign |
|
R7329:Sez6l
|
UTSW |
5 |
112,588,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R7335:Sez6l
|
UTSW |
5 |
112,724,678 (GRCm39) |
splice site |
probably null |
|
R7502:Sez6l
|
UTSW |
5 |
112,623,347 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7870:Sez6l
|
UTSW |
5 |
112,586,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Sez6l
|
UTSW |
5 |
112,609,122 (GRCm39) |
missense |
probably benign |
0.23 |
R8325:Sez6l
|
UTSW |
5 |
112,575,982 (GRCm39) |
splice site |
probably null |
|
R8884:Sez6l
|
UTSW |
5 |
112,622,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Sez6l
|
UTSW |
5 |
112,588,744 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9071:Sez6l
|
UTSW |
5 |
112,573,603 (GRCm39) |
splice site |
probably benign |
|
R9142:Sez6l
|
UTSW |
5 |
112,609,083 (GRCm39) |
missense |
probably benign |
0.00 |
R9159:Sez6l
|
UTSW |
5 |
112,613,824 (GRCm39) |
missense |
possibly damaging |
0.52 |
X0052:Sez6l
|
UTSW |
5 |
112,620,767 (GRCm39) |
missense |
possibly damaging |
0.75 |
Z1088:Sez6l
|
UTSW |
5 |
112,588,781 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Sez6l
|
UTSW |
5 |
112,724,798 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2016-08-02 |