Incidental Mutation 'IGL03102:Sez6l'
ID |
418805 |
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 # |
IGL03102
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112623269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 94
(H94R)
|
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: H94R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153 AA Change: H94R
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: H94R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153 AA Change: H94R
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: H94R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153 AA Change: H94R
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
AA Change: H94R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
AA Change: H94R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly 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 |
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 |
2016-08-02 |