Incidental Mutation 'R8884:Sez6l'
| ID |
677158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6l
|
| Ensembl Gene |
ENSMUSG00000058153 |
| Gene Name |
seizure related 6 homolog like |
| Synonyms |
Acig1 |
| MMRRC Submission |
068690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112622910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 214
(T214A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
| AlphaFold |
Q6P1D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075387
AA Change: T214A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: T214A
| 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: T214A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: T214A
| 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: T214A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: T214A
| 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 damaging
Transcript: ENSMUST00000212480
AA Change: T214A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: T214A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,354 (GRCm39) |
F168Y |
probably damaging |
Het |
| 4932438H23Rik |
T |
C |
16: 90,852,737 (GRCm39) |
Y133C |
probably damaging |
Het |
| Aasdh |
A |
G |
5: 77,039,641 (GRCm39) |
S223P |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,964,941 (GRCm39) |
D453G |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,236,728 (GRCm39) |
F541I |
probably damaging |
Het |
| Agfg1 |
A |
T |
1: 82,860,110 (GRCm39) |
K326* |
probably null |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,541 (GRCm39) |
N448S |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,355 (GRCm39) |
K118E |
possibly damaging |
Het |
| Atp9b |
T |
A |
18: 80,838,562 (GRCm39) |
T451S |
|
Het |
| B4galt6 |
A |
T |
18: 20,822,072 (GRCm39) |
N307K |
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,042,981 (GRCm39) |
M1569I |
probably benign |
Het |
| Cacng6 |
C |
T |
7: 3,478,984 (GRCm39) |
T121I |
probably damaging |
Het |
| Cdc5l |
C |
A |
17: 45,744,467 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,027,860 (GRCm39) |
D535V |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,946 (GRCm39) |
F228L |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,719,757 (GRCm39) |
D404E |
probably benign |
Het |
| Commd8 |
G |
A |
5: 72,325,514 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
A |
19: 43,954,615 (GRCm39) |
Q337L |
possibly damaging |
Het |
| Dctn6 |
T |
C |
8: 34,557,933 (GRCm39) |
T180A |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,447,553 (GRCm39) |
E1180G |
possibly damaging |
Het |
| Dock4 |
T |
A |
12: 40,856,884 (GRCm39) |
L1239Q |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,556,550 (GRCm39) |
I469T |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,115,052 (GRCm39) |
I240N |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,941,280 (GRCm39) |
T1337I |
probably damaging |
Het |
| Fbxw13 |
T |
A |
9: 109,010,469 (GRCm39) |
M390L |
probably benign |
Het |
| Fgr |
C |
T |
4: 132,713,609 (GRCm39) |
P46S |
probably benign |
Het |
| Galnt1 |
T |
A |
18: 24,400,641 (GRCm39) |
M249K |
probably benign |
Het |
| Gm40460 |
A |
T |
7: 141,794,555 (GRCm39) |
C87* |
probably null |
Het |
| Hcn4 |
C |
T |
9: 58,760,705 (GRCm39) |
R417C |
unknown |
Het |
| Insr |
T |
C |
8: 3,205,679 (GRCm39) |
N1370S |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,414,089 (GRCm39) |
E722K |
|
Het |
| Larp6 |
G |
A |
9: 60,620,682 (GRCm39) |
G65E |
|
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Muc16 |
G |
A |
9: 18,555,496 (GRCm39) |
T3599I |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,403,156 (GRCm39) |
F706L |
unknown |
Het |
| Nbea |
A |
T |
3: 55,712,720 (GRCm39) |
M2119K |
probably benign |
Het |
| Or13a18 |
C |
T |
7: 140,190,616 (GRCm39) |
P171L |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,224 (GRCm39) |
T53S |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,574,553 (GRCm39) |
V83I |
probably damaging |
Het |
| Pdcd1lg2 |
G |
T |
19: 29,423,318 (GRCm39) |
|
probably null |
Het |
| Pde7a |
G |
A |
3: 19,281,858 (GRCm39) |
A464V |
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,634,213 (GRCm39) |
F155L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,936,513 (GRCm39) |
D192G |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,282,193 (GRCm39) |
D320G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 174,980,730 (GRCm39) |
V98A |
probably benign |
Het |
| Ric3 |
C |
T |
7: 108,637,688 (GRCm39) |
G356D |
probably benign |
Het |
| Rsph4a |
T |
C |
10: 33,781,840 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,871 (GRCm39) |
V595G |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,119,486 (GRCm39) |
H4508L |
probably damaging |
Het |
| Spta1 |
G |
T |
1: 174,045,254 (GRCm39) |
|
probably null |
Het |
| Ssbp2 |
A |
G |
13: 91,836,989 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,181,822 (GRCm39) |
Q4171P |
possibly damaging |
Het |
| Tgfb2 |
G |
A |
1: 186,364,907 (GRCm39) |
T232I |
probably damaging |
Het |
| Tmem175 |
A |
G |
5: 108,794,327 (GRCm39) |
S486G |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,821,657 (GRCm39) |
V466A |
probably benign |
Het |
| Treh |
C |
G |
9: 44,595,800 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,696 (GRCm39) |
S8G |
unknown |
Het |
| Ttc32 |
T |
A |
12: 9,088,083 (GRCm39) |
D103E |
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,458 (GRCm39) |
L68P |
probably damaging |
Het |
| Vmn2r37 |
T |
G |
7: 9,218,916 (GRCm39) |
L489F |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,734 (GRCm39) |
T802S |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,769 (GRCm39) |
F68I |
probably benign |
Het |
| Zbtb8os |
T |
C |
4: 129,236,924 (GRCm39) |
V113A |
probably benign |
Het |
| Zfp354a |
A |
T |
11: 50,950,805 (GRCm39) |
|
probably benign |
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 |
|
|
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'- AAATGACAGCTGGAGTGGTTCTG -3'
(R):5'- ACAACTCTGCAGAGACTGGG -3'
Sequencing Primer
(F):5'- TCTGTGCTGGCATGCGC -3'
(R):5'- TCTGCCACCACGAAGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation