Incidental Mutation 'IGL02104:Sez6l'
ID |
279915 |
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 # |
IGL02104
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 112574630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
AlphaFold |
Q6P1D5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075387
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153
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 |
probably benign
Transcript: ENSMUST00000079491
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153
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 |
probably benign
Transcript: ENSMUST00000197425
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153
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 |
probably benign
Transcript: ENSMUST00000212480
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
Abcb5 |
T |
A |
12: 118,904,415 (GRCm39) |
Q125L |
probably damaging |
Het |
Acap3 |
G |
A |
4: 155,989,542 (GRCm39) |
R662H |
probably damaging |
Het |
Aox4 |
T |
A |
1: 58,275,816 (GRCm39) |
|
probably benign |
Het |
Aqp6 |
T |
C |
15: 99,502,159 (GRCm39) |
S285P |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,249,345 (GRCm39) |
Q32L |
probably damaging |
Het |
B3gnt6 |
G |
T |
7: 97,843,308 (GRCm39) |
D217E |
probably damaging |
Het |
Cfap251 |
T |
A |
5: 123,440,761 (GRCm39) |
L1106* |
probably null |
Het |
Chd6 |
T |
C |
2: 160,819,432 (GRCm39) |
I1338V |
probably benign |
Het |
Clic6 |
A |
G |
16: 92,295,367 (GRCm39) |
E9G |
possibly damaging |
Het |
Col11a1 |
T |
A |
3: 113,975,046 (GRCm39) |
|
probably null |
Het |
Dcdc2b |
T |
A |
4: 129,504,867 (GRCm39) |
D88V |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,217,611 (GRCm39) |
K791N |
possibly damaging |
Het |
Dmxl2 |
A |
T |
9: 54,311,299 (GRCm39) |
Y1008* |
probably null |
Het |
Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,307,263 (GRCm39) |
|
probably null |
Het |
Fam117b |
C |
T |
1: 59,988,278 (GRCm39) |
T219I |
probably benign |
Het |
Fgf21 |
T |
A |
7: 45,264,648 (GRCm39) |
Q28L |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,393,638 (GRCm39) |
Q391R |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,054,682 (GRCm39) |
D663G |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,971,469 (GRCm39) |
F69L |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,777 (GRCm39) |
V826E |
probably damaging |
Het |
Mapkap1 |
T |
A |
2: 34,513,482 (GRCm39) |
Y497* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,550 (GRCm39) |
I296V |
possibly damaging |
Het |
Mon1a |
T |
G |
9: 107,778,814 (GRCm39) |
L346R |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,912,036 (GRCm39) |
L353S |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,364,815 (GRCm39) |
Y2634H |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,635,805 (GRCm39) |
T9A |
probably benign |
Het |
Or10j2 |
T |
C |
1: 173,098,603 (GRCm39) |
V287A |
probably damaging |
Het |
Or14j8 |
A |
C |
17: 38,263,182 (GRCm39) |
H244Q |
probably damaging |
Het |
Or55b3 |
C |
A |
7: 102,126,544 (GRCm39) |
V178F |
probably damaging |
Het |
Or5an6 |
T |
A |
19: 12,372,263 (GRCm39) |
V212D |
probably damaging |
Het |
Or5b122 |
T |
A |
19: 13,562,968 (GRCm39) |
M57K |
probably damaging |
Het |
Or5m8 |
G |
T |
2: 85,822,730 (GRCm39) |
D190Y |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,166 (GRCm39) |
H176Q |
probably benign |
Het |
Pabpc2 |
A |
C |
18: 39,907,936 (GRCm39) |
Q400H |
possibly damaging |
Het |
Pigg |
A |
G |
5: 108,489,963 (GRCm39) |
Y856C |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,865 (GRCm39) |
V508E |
probably benign |
Het |
Pom121l2 |
C |
A |
13: 22,166,445 (GRCm39) |
H239N |
possibly damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,997 (GRCm39) |
S1098P |
probably benign |
Het |
Rnf212 |
A |
G |
5: 108,895,306 (GRCm39) |
I41T |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,320,517 (GRCm39) |
|
probably null |
Het |
Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
Scd4 |
G |
T |
19: 44,333,186 (GRCm39) |
V304F |
possibly damaging |
Het |
Shroom3 |
A |
G |
5: 93,088,248 (GRCm39) |
R158G |
probably benign |
Het |
Stil |
T |
C |
4: 114,898,679 (GRCm39) |
L1103P |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,959 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
C |
T |
19: 20,809,818 (GRCm39) |
D255N |
probably benign |
Het |
Trank1 |
C |
A |
9: 111,219,780 (GRCm39) |
D2172E |
possibly damaging |
Het |
Tyro3 |
G |
A |
2: 119,643,681 (GRCm39) |
R718H |
probably damaging |
Het |
Vamp2 |
C |
A |
11: 68,981,483 (GRCm39) |
F114L |
probably benign |
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 |
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 |
IGL03180:Sez6l
|
APN |
5 |
112,584,151 (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 |
2015-04-16 |