Incidental Mutation 'IGL03112:Sez6l'
| ID |
419240 |
| 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 # |
IGL03112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112621333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 247
(E247V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
| AlphaFold |
Q6P1D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075387
AA Change: E247V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: E247V
| 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 damaging
Transcript: ENSMUST00000079491
AA Change: E247V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: E247V
| 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 damaging
Transcript: ENSMUST00000197425
AA Change: E247V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: E247V
| 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: E61V
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212480
AA Change: E247V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: E247V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| 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 |
|---|
| Adam26b |
T |
C |
8: 43,974,549 (GRCm39) |
N151S |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,755,029 (GRCm39) |
|
probably null |
Het |
| Apol11a |
T |
A |
15: 77,401,509 (GRCm39) |
L332Q |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,623,834 (GRCm39) |
S45L |
probably benign |
Het |
| Cend1 |
G |
A |
7: 141,007,640 (GRCm39) |
T60M |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,739,242 (GRCm39) |
E329* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,249,435 (GRCm39) |
R266G |
possibly damaging |
Het |
| Defb48 |
C |
T |
14: 63,221,854 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
T |
G |
7: 140,941,649 (GRCm39) |
L640R |
probably damaging |
Het |
| Exoc2 |
T |
A |
13: 31,090,570 (GRCm39) |
|
probably benign |
Het |
| Fam149a |
C |
T |
8: 45,801,580 (GRCm39) |
V514M |
possibly damaging |
Het |
| Fbxo25 |
A |
T |
8: 13,971,034 (GRCm39) |
D74V |
probably benign |
Het |
| Gm11733 |
A |
G |
11: 117,377,966 (GRCm39) |
*126W |
probably null |
Het |
| Grm8 |
C |
T |
6: 27,363,262 (GRCm39) |
C751Y |
probably damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,853 (GRCm39) |
D147V |
probably benign |
Het |
| Lclat1 |
A |
T |
17: 73,546,742 (GRCm39) |
T220S |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,272,478 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Lsm4 |
T |
A |
8: 71,130,656 (GRCm39) |
I60N |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,177,601 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mybl2 |
A |
G |
2: 162,904,456 (GRCm39) |
E89G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,021,856 (GRCm39) |
E512G |
probably benign |
Het |
| Myrfl |
A |
T |
10: 116,639,311 (GRCm39) |
S583T |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,450,914 (GRCm39) |
I106V |
probably damaging |
Het |
| Oas1a |
A |
T |
5: 121,036,412 (GRCm39) |
D338E |
possibly damaging |
Het |
| Or10ag52 |
T |
A |
2: 87,043,944 (GRCm39) |
I236N |
probably damaging |
Het |
| Or4a76 |
G |
A |
2: 89,460,678 (GRCm39) |
T188I |
probably benign |
Het |
| Or6c1 |
A |
G |
10: 129,517,792 (GRCm39) |
V272A |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,615,044 (GRCm39) |
Q508K |
probably benign |
Het |
| S100b |
A |
G |
10: 76,095,808 (GRCm39) |
D62G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,221,557 (GRCm39) |
H119R |
probably damaging |
Het |
| Shoc1 |
G |
T |
4: 59,049,355 (GRCm39) |
Q1069K |
probably benign |
Het |
| Shq1 |
C |
A |
6: 100,550,574 (GRCm39) |
E455* |
probably null |
Het |
| Slc9b1 |
T |
A |
3: 135,103,433 (GRCm39) |
M521K |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,413,855 (GRCm39) |
F543L |
probably damaging |
Het |
| Tcf25 |
T |
C |
8: 124,109,258 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
C |
A |
4: 137,335,375 (GRCm39) |
Q183K |
probably damaging |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,086 (GRCm39) |
G45S |
probably damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,368 (GRCm39) |
Y30* |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation