Incidental Mutation 'R0662:Sez6l'
| ID |
61881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6l
|
| Ensembl Gene |
ENSMUSG00000058153 |
| Gene Name |
seizure related 6 homolog like |
| Synonyms |
Acig1 |
| MMRRC Submission |
038847-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0662 (G1)
|
| Quality Score |
116 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112621288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 262
(L262Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075387]
[ENSMUST00000079491]
[ENSMUST00000197425]
[ENSMUST00000212480]
[ENSMUST00000212758]
|
| AlphaFold |
Q6P1D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075387
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: L262Q
| 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: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: L262Q
| 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: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: L262Q
| 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: L76Q
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212480
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
| Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
| C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
| Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
| Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
| Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
| Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
| Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
| Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
| Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
| Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
| Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
| Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
| Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
| Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
| Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
| Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
| Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
| Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
| Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
| Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
| Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
| Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
| Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
| Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
| Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
| Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
| Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
| Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
| Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
| Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
| Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
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 |
|
|
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'- TCCAGGGCAAATACCCTTCTCCAG -3'
(R):5'- CCCTACAACACATCAGTGAGTGAGC -3'
Sequencing Primer
(F):5'- CTGCCAGTGTTTAATAAGCAGGAC -3'
(R):5'- TGCAGCCCTGTGTATCCG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation