Incidental Mutation 'R7008:Sez6l'
| ID |
544824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sez6l
|
| Ensembl Gene |
ENSMUSG00000058153 |
| Gene Name |
seizure related 6 homolog like |
| Synonyms |
Acig1 |
| MMRRC Submission |
045110-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112567017-112725051 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112612561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 460
(Y460C)
|
| 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: Y460C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: Y460C
| 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: Y460C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: Y460C
| 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: Y460C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: Y460C
| 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: Y460C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212758
AA Change: Y460C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
| Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
| Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
| Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
| Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
| Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
| Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
| Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
| Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
| Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
| Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
| Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
| Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
| Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
| Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
| Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
| Odf2l |
A |
G |
3: 144,838,495 (GRCm39) |
K241E |
probably damaging |
Het |
| Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
| Osbpl10 |
T |
G |
9: 114,890,916 (GRCm39) |
D101E |
probably damaging |
Het |
| Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
| Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
| Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
| Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sipa1l1 |
T |
G |
12: 82,409,886 (GRCm39) |
M600R |
probably damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
| Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
| Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
| Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
| Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,535,005 (GRCm39) |
L721P |
probably benign |
Het |
| Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
| Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
| Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,355,421 (GRCm39) |
F216L |
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 |
|
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'- AAATCATGGGCCAGTCTGG -3'
(R):5'- AGAGGCAGGATTTGGGTTCC -3'
Sequencing Primer
(F):5'- AGTCTGGGTCCCTCATGCTTAG -3'
(R):5'- TGGGTTCCGAGGGAGAC -3'
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| Posted On |
2019-05-13 |
Incidental Mutation