Incidental Mutation 'R9142:Sez6l'
ID |
694383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sez6l
|
Ensembl Gene |
ENSMUSG00000058153 |
Gene Name |
seizure related 6 homolog like |
Synonyms |
Acig1 |
MMRRC Submission |
068934-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9142 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 112609083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 589
(A589T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
AlphaFold |
Q6P1D5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075387
AA Change: A589T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153 AA Change: A589T
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: A589T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153 AA Change: A589T
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: A589T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153 AA Change: A589T
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212480
AA Change: A589T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
AA Change: A589T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
C |
A |
4: 126,215,360 (GRCm39) |
G35V |
probably damaging |
Het |
Apob |
A |
C |
12: 8,062,705 (GRCm39) |
D3729A |
possibly damaging |
Het |
App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
Arid3a |
T |
C |
10: 79,787,612 (GRCm39) |
S550P |
unknown |
Het |
Armc2 |
T |
G |
10: 41,851,404 (GRCm39) |
E259D |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,729,364 (GRCm39) |
D566G |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,474,111 (GRCm39) |
C12R |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cc2d2b |
C |
T |
19: 40,753,845 (GRCm39) |
R123* |
probably null |
Het |
Cdc37l1 |
T |
A |
19: 28,989,402 (GRCm39) |
H286Q |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,820,097 (GRCm39) |
L1239Q |
possibly damaging |
Het |
Cfap58 |
T |
C |
19: 47,974,993 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,706,566 (GRCm39) |
D2789E |
unknown |
Het |
Ctnna2 |
G |
T |
6: 76,879,423 (GRCm39) |
|
probably benign |
Het |
Dazl |
A |
G |
17: 50,590,178 (GRCm39) |
V271A |
probably benign |
Het |
Dennd4c |
A |
T |
4: 86,755,637 (GRCm39) |
N1610Y |
probably benign |
Het |
Dusp13b |
T |
A |
14: 21,792,756 (GRCm39) |
K56N |
probably benign |
Het |
Erbb2 |
T |
A |
11: 98,312,884 (GRCm39) |
I149N |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,388,552 (GRCm39) |
C217S |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,985,413 (GRCm39) |
C122R |
probably damaging |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,344,298 (GRCm39) |
I182N |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,730,886 (GRCm39) |
N381S |
possibly damaging |
Het |
Gja3 |
T |
C |
14: 57,274,048 (GRCm39) |
E108G |
probably benign |
Het |
Gm40460 |
C |
A |
7: 141,794,499 (GRCm39) |
G106V |
unknown |
Het |
Gm9736 |
A |
G |
10: 77,586,849 (GRCm39) |
C114R |
unknown |
Het |
Gpbp1 |
A |
T |
13: 111,563,033 (GRCm39) |
D492E |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,312 (GRCm39) |
V219A |
possibly damaging |
Het |
Gtf2e1 |
C |
T |
16: 37,356,364 (GRCm39) |
R56Q |
probably benign |
Het |
H2ac10 |
T |
C |
13: 23,718,151 (GRCm39) |
L24P |
probably damaging |
Het |
Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
Kat6a |
T |
A |
8: 23,430,072 (GRCm39) |
M1809K |
unknown |
Het |
Kdm2b |
A |
T |
5: 123,127,112 (GRCm39) |
|
probably benign |
Het |
Kif7 |
A |
T |
7: 79,356,585 (GRCm39) |
M702K |
probably benign |
Het |
Lrrtm4 |
T |
A |
6: 79,999,426 (GRCm39) |
N279K |
probably damaging |
Het |
Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,831,195 (GRCm39) |
I444T |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,362,315 (GRCm39) |
S1497R |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,366,688 (GRCm39) |
I1607N |
probably damaging |
Het |
Nrde2 |
G |
T |
12: 100,117,518 (GRCm39) |
T47K |
probably benign |
Het |
Or5w12 |
C |
T |
2: 87,502,313 (GRCm39) |
V133I |
probably benign |
Het |
Or6b2b |
T |
G |
1: 92,419,411 (GRCm39) |
E22A |
probably benign |
Het |
Or6c1 |
T |
C |
10: 129,518,285 (GRCm39) |
T108A |
probably benign |
Het |
Ppargc1a |
G |
A |
5: 51,652,146 (GRCm39) |
T184I |
possibly damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,173,920 (GRCm39) |
D296G |
probably damaging |
Het |
Prl7c1 |
C |
T |
13: 27,964,751 (GRCm39) |
|
probably benign |
Het |
Prss42 |
G |
T |
9: 110,628,228 (GRCm39) |
R124L |
possibly damaging |
Het |
Psmd1 |
T |
G |
1: 86,064,817 (GRCm39) |
Y950D |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,024,119 (GRCm39) |
L250F |
possibly damaging |
Het |
Rabgef1 |
T |
A |
5: 130,237,554 (GRCm39) |
M208K |
possibly damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,437,793 (GRCm39) |
Y17C |
probably damaging |
Het |
Scart2 |
T |
A |
7: 139,877,806 (GRCm39) |
D929E |
probably damaging |
Het |
Sec23ip |
T |
A |
7: 128,363,226 (GRCm39) |
C463S |
probably damaging |
Het |
Serpina3n |
A |
G |
12: 104,379,710 (GRCm39) |
T368A |
probably damaging |
Het |
Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
Spag5 |
T |
A |
11: 78,192,823 (GRCm39) |
Y52N |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,788,548 (GRCm39) |
S494L |
unknown |
Het |
Top3b |
T |
C |
16: 16,701,299 (GRCm39) |
Y204H |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,973,452 (GRCm39) |
V94M |
possibly damaging |
Het |
Trps1 |
T |
G |
15: 50,524,658 (GRCm39) |
I1091L |
probably damaging |
Het |
Ttk |
G |
A |
9: 83,725,741 (GRCm39) |
R221Q |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,549,466 (GRCm39) |
M31737R |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,335,125 (GRCm39) |
L495* |
probably null |
Het |
Usp19 |
A |
G |
9: 108,372,284 (GRCm39) |
D447G |
possibly damaging |
Het |
Zdhhc2 |
A |
G |
8: 40,920,563 (GRCm39) |
E274G |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,350,935 (GRCm39) |
Y1595F |
probably damaging |
Het |
Zfp932 |
A |
T |
5: 110,157,520 (GRCm39) |
H406L |
probably 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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTTCTTGGACACCAGTC -3'
(R):5'- CTACACAGGGATCCACAGATG -3'
Sequencing Primer
(F):5'- GGACACCAGTCTTTTTAGCGGAAC -3'
(R):5'- GGATCCACAGATGCCAACCTC -3'
|
Posted On |
2022-01-20 |