Incidental Mutation 'IGL00331:Sez6l'
| ID |
5557 |
| 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 # |
IGL00331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112572511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 948
(D948G)
|
| 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: D946G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: D946G
| 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: D947G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: D947G
| 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: D881G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: D881G
| 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: D697G
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212480
AA Change: D948G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: D871G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
| Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
| Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
| Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
| Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
| Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
| Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
| Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
| Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
| Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
| Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
| Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
| Other mutations in Sez6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation