Incidental Mutation 'R2343:Sez6l'
| ID |
245898 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2343 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112419151-112577185 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112464731 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 448
(V448D)
|
| 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: V448D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: V448D
| 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: V448D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: V448D
| 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: V448D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: V448D
| 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: V262D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212480
AA Change: V448D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: V448D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 75,145,422 |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 181,001,331 |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,890,678 |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,602,298 |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,895,154 |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,957,105 |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,696 |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,908,021 |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,292,195 |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,428,109 |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,459,797 |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,598,817 |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Olfr1282 |
A |
G |
2: 111,335,700 |
I126T |
probably damaging |
Het |
| Olfr1342 |
C |
A |
4: 118,690,187 |
M88I |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,167,083 |
F67L |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,344,342 |
K160R |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,483,360 |
V513E |
probably damaging |
Het |
| Susd3 |
T |
A |
13: 49,238,859 |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,938,829 |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 178,032,994 |
K129E |
possibly damaging |
Het |
|
| Other mutations in Sez6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Sez6l
|
APN |
5 |
112424645 |
missense |
probably damaging |
1.00 |
|
IGL00494:Sez6l
|
APN |
5 |
112463003 |
missense |
probably damaging |
1.00 |
|
IGL00693:Sez6l
|
APN |
5 |
112422013 |
missense |
probably damaging |
1.00 |
|
IGL01146:Sez6l
|
APN |
5 |
112428409 |
missense |
probably damaging |
1.00 |
|
IGL01382:Sez6l
|
APN |
5 |
112425621 |
missense |
probably benign |
0.00 |
|
IGL01393:Sez6l
|
APN |
5 |
112438395 |
splice site |
probably benign |
|
|
IGL01961:Sez6l
|
APN |
5 |
112471731 |
missense |
probably damaging |
1.00 |
|
IGL02101:Sez6l
|
APN |
5 |
112472746 |
missense |
probably damaging |
1.00 |
|
IGL02104:Sez6l
|
APN |
5 |
112426764 |
intron |
probably benign |
|
|
IGL02316:Sez6l
|
APN |
5 |
112462962 |
missense |
probably damaging |
1.00 |
|
IGL02965:Sez6l
|
APN |
5 |
112475574 |
missense |
probably damaging |
0.99 |
|
IGL03102:Sez6l
|
APN |
5 |
112475403 |
missense |
probably benign |
0.02 |
|
IGL03112:Sez6l
|
APN |
5 |
112473467 |
missense |
probably damaging |
1.00 |
|
IGL03180:Sez6l
|
APN |
5 |
112436285 |
missense |
probably damaging |
1.00 |
|
ranger
|
UTSW |
5 |
112576812 |
splice site |
probably null |
|
|
R0245:Sez6l
|
UTSW |
5 |
112475566 |
missense |
probably benign |
|
|
R0662:Sez6l
|
UTSW |
5 |
112473422 |
missense |
probably damaging |
1.00 |
|
R1227:Sez6l
|
UTSW |
5 |
112473464 |
missense |
probably damaging |
1.00 |
|
R1605:Sez6l
|
UTSW |
5 |
112475049 |
missense |
probably damaging |
1.00 |
|
R1873:Sez6l
|
UTSW |
5 |
112473410 |
splice site |
probably benign |
|
|
R1878:Sez6l
|
UTSW |
5 |
112475223 |
missense |
probably damaging |
0.98 |
|
R1892:Sez6l
|
UTSW |
5 |
112472799 |
missense |
probably damaging |
1.00 |
|
R1961:Sez6l
|
UTSW |
5 |
112424615 |
splice site |
probably benign |
|
|
R2038:Sez6l
|
UTSW |
5 |
112472752 |
missense |
possibly damaging |
0.81 |
|
R2212:Sez6l
|
UTSW |
5 |
112475361 |
missense |
possibly damaging |
0.76 |
|
R2315:Sez6l
|
UTSW |
5 |
112464597 |
missense |
probably benign |
0.02 |
|
R3412:Sez6l
|
UTSW |
5 |
112475361 |
missense |
possibly damaging |
0.76 |
|
R3413:Sez6l
|
UTSW |
5 |
112475361 |
missense |
possibly damaging |
0.76 |
|
R3423:Sez6l
|
UTSW |
5 |
112426749 |
missense |
probably damaging |
0.99 |
|
R3425:Sez6l
|
UTSW |
5 |
112426749 |
missense |
probably damaging |
0.99 |
|
R4081:Sez6l
|
UTSW |
5 |
112461166 |
missense |
probably benign |
0.01 |
|
R4574:Sez6l
|
UTSW |
5 |
112428478 |
missense |
probably damaging |
1.00 |
|
R5792:Sez6l
|
UTSW |
5 |
112422024 |
nonsense |
probably null |
|
|
R5864:Sez6l
|
UTSW |
5 |
112438400 |
critical splice donor site |
probably null |
|
|
R6236:Sez6l
|
UTSW |
5 |
112475244 |
missense |
possibly damaging |
0.86 |
|
R6274:Sez6l
|
UTSW |
5 |
112475365 |
nonsense |
probably null |
|
|
R6466:Sez6l
|
UTSW |
5 |
112461141 |
splice site |
probably null |
|
|
R6574:Sez6l
|
UTSW |
5 |
112576826 |
missense |
possibly damaging |
0.89 |
|
R7008:Sez6l
|
UTSW |
5 |
112464695 |
missense |
probably damaging |
1.00 |
|
R7241:Sez6l
|
UTSW |
5 |
112473480 |
missense |
probably benign |
|
|
R7329:Sez6l
|
UTSW |
5 |
112440907 |
missense |
probably damaging |
0.99 |
|
R7335:Sez6l
|
UTSW |
5 |
112576812 |
splice site |
probably null |
|
|
R7502:Sez6l
|
UTSW |
5 |
112475481 |
missense |
possibly damaging |
0.89 |
|
R7870:Sez6l
|
UTSW |
5 |
112438581 |
missense |
probably damaging |
1.00 |
|
R8260:Sez6l
|
UTSW |
5 |
112461256 |
missense |
probably benign |
0.23 |
|
R8325:Sez6l
|
UTSW |
5 |
112428116 |
splice site |
probably null |
|
|
R8884:Sez6l
|
UTSW |
5 |
112475044 |
missense |
probably damaging |
1.00 |
|
R8897:Sez6l
|
UTSW |
5 |
112440878 |
missense |
possibly damaging |
0.94 |
|
R9071:Sez6l
|
UTSW |
5 |
112425737 |
splice site |
probably benign |
|
|
R9142:Sez6l
|
UTSW |
5 |
112461217 |
missense |
probably benign |
0.00 |
|
R9159:Sez6l
|
UTSW |
5 |
112465958 |
missense |
possibly damaging |
0.52 |
|
X0052:Sez6l
|
UTSW |
5 |
112472901 |
missense |
possibly damaging |
0.75 |
|
Z1088:Sez6l
|
UTSW |
5 |
112440915 |
missense |
probably damaging |
1.00 |
|
Z1177:Sez6l
|
UTSW |
5 |
112576932 |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTAGACCCTGGTTCAGC -3'
(R):5'- AACAAGCAGACAGTTTCCATTTCTG -3'
Sequencing Primer
(F):5'- AGACCCTGGTTCAGCCTTCAC -3'
(R):5'- CAGACAGTTTCCATTTCTGTGACGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation