Incidental Mutation 'R0245:Sez6l'
ID |
36159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sez6l
|
Ensembl Gene |
ENSMUSG00000058153 |
Gene Name |
seizure related 6 homolog like |
Synonyms |
Acig1 |
MMRRC Submission |
038483-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112623432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 40
(M40V)
|
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: M40V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074847 Gene: ENSMUSG00000058153 AA Change: M40V
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: M40V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078454 Gene: ENSMUSG00000058153 AA Change: M40V
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: M40V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143395 Gene: ENSMUSG00000058153 AA Change: M40V
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: M40V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212758
AA Change: M40V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
99% (73/74) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
G |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
Actmap |
T |
A |
7: 26,900,028 (GRCm39) |
C98S |
possibly damaging |
Het |
Adgrg6 |
T |
A |
10: 14,333,810 (GRCm39) |
|
probably benign |
Het |
Adra2a |
G |
C |
19: 54,035,840 (GRCm39) |
V399L |
probably damaging |
Het |
Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
Asic3 |
C |
A |
5: 24,618,836 (GRCm39) |
R43S |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,483,640 (GRCm39) |
Y178N |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,581,415 (GRCm39) |
N1647D |
probably benign |
Het |
Cacna2d4 |
A |
T |
6: 119,285,682 (GRCm39) |
D803V |
probably damaging |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
Cmpk2 |
A |
T |
12: 26,519,517 (GRCm39) |
D56V |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,540,685 (GRCm39) |
Y2563C |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
E2f7 |
C |
A |
10: 110,610,656 (GRCm39) |
S427* |
probably null |
Het |
Eps8 |
T |
C |
6: 137,456,126 (GRCm39) |
D785G |
probably benign |
Het |
Ereg |
G |
A |
5: 91,222,659 (GRCm39) |
C14Y |
possibly damaging |
Het |
Fah |
A |
C |
7: 84,244,706 (GRCm39) |
H222Q |
probably benign |
Het |
Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
Fdps |
A |
G |
3: 89,001,078 (GRCm39) |
S334P |
possibly damaging |
Het |
Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
Golga1 |
A |
G |
2: 38,925,271 (GRCm39) |
V351A |
probably benign |
Het |
Got1 |
A |
T |
19: 43,492,946 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,724,976 (GRCm39) |
I252T |
possibly damaging |
Het |
Gucy1a1 |
A |
G |
3: 82,016,094 (GRCm39) |
I298T |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,317,766 (GRCm39) |
I2081V |
possibly damaging |
Het |
Hps3 |
A |
T |
3: 20,066,960 (GRCm39) |
C535* |
probably null |
Het |
Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
Itgb8 |
T |
A |
12: 119,154,290 (GRCm39) |
N249I |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,874,992 (GRCm39) |
E314G |
probably damaging |
Het |
Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
Kng2 |
A |
T |
16: 22,830,931 (GRCm39) |
|
probably benign |
Het |
Marchf4 |
A |
T |
1: 72,573,940 (GRCm39) |
D119E |
probably benign |
Het |
Mrpl34 |
T |
C |
8: 71,917,719 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,400,856 (GRCm39) |
K660R |
probably damaging |
Het |
Nr2c2ap |
T |
C |
8: 70,584,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
Or4c29 |
C |
A |
2: 88,740,219 (GRCm39) |
D173Y |
possibly damaging |
Het |
Or4k52 |
A |
G |
2: 111,610,680 (GRCm39) |
N5S |
probably damaging |
Het |
Or5k14 |
A |
T |
16: 58,693,229 (GRCm39) |
Y95N |
probably benign |
Het |
Or7g33 |
C |
A |
9: 19,448,408 (GRCm39) |
V273L |
probably benign |
Het |
Oscar |
C |
T |
7: 3,614,573 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,610,624 (GRCm39) |
S1046G |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,844,284 (GRCm39) |
D5G |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,187,424 (GRCm39) |
H486R |
probably benign |
Het |
Rnf111 |
C |
T |
9: 70,361,113 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,676,066 (GRCm39) |
Y309C |
probably damaging |
Het |
Rnf19a |
A |
T |
15: 36,253,178 (GRCm39) |
I387N |
probably damaging |
Het |
Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,448,206 (GRCm39) |
I416T |
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Spata32 |
C |
T |
11: 103,099,921 (GRCm39) |
A195T |
probably damaging |
Het |
Srrd |
A |
G |
5: 112,485,394 (GRCm39) |
|
probably benign |
Het |
Srsf3-ps |
T |
A |
11: 98,516,067 (GRCm39) |
|
probably benign |
Het |
Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
Taok3 |
G |
A |
5: 117,390,744 (GRCm39) |
|
probably benign |
Het |
Tbxas1 |
G |
T |
6: 39,004,702 (GRCm39) |
R316S |
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,752 (GRCm39) |
I116N |
possibly damaging |
Het |
Tm7sf3 |
T |
C |
6: 146,520,107 (GRCm39) |
T260A |
possibly damaging |
Het |
Top2a |
T |
C |
11: 98,900,922 (GRCm39) |
I556V |
probably benign |
Het |
Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
Xpo4 |
G |
T |
14: 57,867,697 (GRCm39) |
H183Q |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,230,947 (GRCm39) |
I81L |
probably benign |
Het |
Zfp455 |
A |
T |
13: 67,355,899 (GRCm39) |
Y389F |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAGATGAGCCTCGTATACCTG -3'
(R):5'- GTGCCCTTGGCTTCTGTAGTCATAATG -3'
Sequencing Primer
(F):5'- gacgtggtggtCTCCTGG -3'
(R):5'- CTGGGTCCCAGAACAATGAG -3'
|
Posted On |
2013-05-09 |