Incidental Mutation 'IGL01382:Sez6l'
ID |
78905 |
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 # |
IGL01382
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112573487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 842
(V842I)
|
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
AA Change: V917I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153 AA Change: V917I
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
AA Change: V918I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153 AA Change: V918I
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
AA Change: V852I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153 AA Change: V852I
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 |
unknown
Transcript: ENSMUST00000200575
AA Change: V668I
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212480
AA Change: V919I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
AA Change: V842I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5z1 |
G |
T |
5: 142,458,006 (GRCm39) |
R393L |
probably benign |
Het |
Arhgap21 |
G |
T |
2: 20,860,511 (GRCm39) |
P1128T |
probably damaging |
Het |
Atp12a |
T |
G |
14: 56,617,412 (GRCm39) |
C567W |
probably damaging |
Het |
Bcat2 |
C |
A |
7: 45,237,684 (GRCm39) |
R312S |
probably damaging |
Het |
Cacna1g |
T |
A |
11: 94,356,684 (GRCm39) |
T151S |
probably damaging |
Het |
Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
Dis3l2 |
A |
G |
1: 86,784,925 (GRCm39) |
D272G |
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,095,733 (GRCm39) |
S596P |
probably damaging |
Het |
Ephx4 |
A |
G |
5: 107,577,585 (GRCm39) |
E303G |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Gm9843 |
A |
T |
16: 76,200,460 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1l |
T |
C |
16: 18,362,950 (GRCm39) |
F11S |
probably damaging |
Het |
Ipmk |
C |
T |
10: 71,212,596 (GRCm39) |
T186M |
probably damaging |
Het |
Jph1 |
T |
C |
1: 17,086,380 (GRCm39) |
T381A |
probably damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,099,211 (GRCm39) |
I163K |
probably damaging |
Het |
Kif18a |
T |
A |
2: 109,127,111 (GRCm39) |
Y348* |
probably null |
Het |
Lrrc37a |
T |
A |
11: 103,389,581 (GRCm39) |
D1948V |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,864 (GRCm39) |
I83T |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,192,799 (GRCm39) |
E1530V |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,436,364 (GRCm39) |
E720K |
possibly damaging |
Het |
Ncor2 |
T |
A |
5: 125,132,837 (GRCm39) |
Q50L |
probably damaging |
Het |
Or5p70 |
G |
A |
7: 107,994,452 (GRCm39) |
V42M |
probably benign |
Het |
Or9s15 |
A |
G |
1: 92,524,922 (GRCm39) |
Y227C |
possibly damaging |
Het |
Plxnd1 |
A |
T |
6: 115,937,488 (GRCm39) |
M1575K |
probably damaging |
Het |
Ptprg |
T |
G |
14: 12,237,797 (GRCm38) |
M643R |
probably benign |
Het |
Reck |
T |
A |
4: 43,940,662 (GRCm39) |
C824S |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,382,934 (GRCm39) |
T689I |
possibly damaging |
Het |
Ruvbl2 |
A |
T |
7: 45,072,161 (GRCm39) |
S358T |
probably benign |
Het |
Sec14l3 |
G |
T |
11: 4,018,104 (GRCm39) |
C128F |
probably damaging |
Het |
Serpinf2 |
C |
T |
11: 75,328,863 (GRCm39) |
|
probably benign |
Het |
Tm6sf2 |
A |
G |
8: 70,531,018 (GRCm39) |
Y257C |
probably damaging |
Het |
Tmpo |
T |
C |
10: 91,001,912 (GRCm39) |
D99G |
probably damaging |
Het |
Tulp3 |
A |
C |
6: 128,302,033 (GRCm39) |
N329K |
probably damaging |
Het |
Vmn1r7 |
T |
A |
6: 57,001,708 (GRCm39) |
D184V |
probably damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,533,578 (GRCm39) |
L494* |
probably null |
Het |
Wdr18 |
T |
C |
10: 79,801,106 (GRCm39) |
L173P |
probably damaging |
Het |
Zfp663 |
T |
A |
2: 165,200,935 (GRCm39) |
Y33F |
probably damaging |
Het |
Zmiz2 |
T |
A |
11: 6,353,781 (GRCm39) |
|
probably null |
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 |
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 |
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 |
2013-11-05 |