Incidental Mutation 'R0396:Szt2'
| ID |
32025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
038602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R0396 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 118233544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000075406
AA Change: R2259W
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: R2259W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
64 |
N/A |
INTRINSIC |
|
Blast:VWA
|
93 |
343 |
1e-109 |
BLAST |
|
low complexity region
|
704 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1619 |
1630 |
N/A |
INTRINSIC |
|
low complexity region
|
1662 |
1678 |
N/A |
INTRINSIC |
|
low complexity region
|
1832 |
1854 |
N/A |
INTRINSIC |
|
low complexity region
|
1862 |
1881 |
N/A |
INTRINSIC |
|
low complexity region
|
1895 |
1914 |
N/A |
INTRINSIC |
|
low complexity region
|
2176 |
2184 |
N/A |
INTRINSIC |
|
low complexity region
|
2284 |
2292 |
N/A |
INTRINSIC |
|
low complexity region
|
2309 |
2323 |
N/A |
INTRINSIC |
|
low complexity region
|
2373 |
2384 |
N/A |
INTRINSIC |
|
low complexity region
|
2500 |
2508 |
N/A |
INTRINSIC |
|
low complexity region
|
2669 |
2680 |
N/A |
INTRINSIC |
|
low complexity region
|
2739 |
2758 |
N/A |
INTRINSIC |
|
low complexity region
|
3239 |
3252 |
N/A |
INTRINSIC |
|
low complexity region
|
3257 |
3268 |
N/A |
INTRINSIC |
|
low complexity region
|
3283 |
3309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183402
|
| Meta Mutation Damage Score |
0.1037 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
| Validation Efficiency |
92% (96/104) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein associated with low seizure threshold in mice and may contribute to susceptibility to epilepsy. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for mutations in this gene display increased susceptibility to induced seizures. Mice homozygous for null mutations also display partial penetrance of prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
G |
A |
8: 106,436,412 (GRCm39) |
V194I |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,235,678 (GRCm39) |
I133F |
probably damaging |
Het |
| Adamts9 |
T |
A |
6: 92,774,986 (GRCm39) |
T1676S |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,009,745 (GRCm39) |
D769G |
probably benign |
Het |
| Aif1 |
T |
C |
17: 35,390,085 (GRCm39) |
*148W |
probably null |
Het |
| Akna |
C |
T |
4: 63,310,363 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
G |
A |
9: 32,156,551 (GRCm39) |
|
probably null |
Het |
| Atpaf1 |
G |
A |
4: 115,642,449 (GRCm39) |
E92K |
possibly damaging |
Het |
| Bltp2 |
T |
C |
11: 78,159,203 (GRCm39) |
V467A |
possibly damaging |
Het |
| C1s1 |
T |
C |
6: 124,510,313 (GRCm39) |
E378G |
probably benign |
Het |
| Caprin1 |
T |
A |
2: 103,599,914 (GRCm39) |
Q108L |
probably damaging |
Het |
| Car13 |
A |
T |
3: 14,721,299 (GRCm39) |
H154L |
probably benign |
Het |
| Cdon |
C |
A |
9: 35,381,426 (GRCm39) |
N605K |
probably damaging |
Het |
| Ceacam10 |
G |
A |
7: 24,480,439 (GRCm39) |
G70E |
probably damaging |
Het |
| Cfap221 |
G |
A |
1: 119,881,930 (GRCm39) |
T286M |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,791,864 (GRCm39) |
F107S |
possibly damaging |
Het |
| Coil |
C |
A |
11: 88,872,449 (GRCm39) |
T270N |
probably benign |
Het |
| Crocc2 |
T |
G |
1: 93,151,936 (GRCm39) |
|
probably benign |
Het |
| Crot |
T |
C |
5: 9,019,959 (GRCm39) |
E461G |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,391 (GRCm39) |
R41L |
unknown |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,671 (GRCm39) |
S166G |
possibly damaging |
Het |
| Dennd4a |
T |
G |
9: 64,769,673 (GRCm39) |
V460G |
probably damaging |
Het |
| Depdc7 |
A |
T |
2: 104,557,668 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,240,134 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
G |
17: 80,582,226 (GRCm39) |
S407R |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,636,392 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
G |
6: 83,035,986 (GRCm39) |
M106R |
probably benign |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Ephx2 |
T |
G |
14: 66,345,512 (GRCm39) |
I151L |
probably benign |
Het |
| Gdf3 |
C |
T |
6: 122,584,094 (GRCm39) |
G91D |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,665,620 (GRCm39) |
N481K |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,198,087 (GRCm39) |
H291L |
probably benign |
Het |
| H2-T13 |
A |
G |
17: 36,394,614 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,785,946 (GRCm39) |
|
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,627 (GRCm39) |
I232L |
probably benign |
Het |
| Itgb2 |
A |
G |
10: 77,397,023 (GRCm39) |
Y686C |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,055,302 (GRCm39) |
T528A |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,121,388 (GRCm39) |
I541V |
possibly damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,559,054 (GRCm39) |
V343L |
probably damaging |
Het |
| Kif16b |
C |
T |
2: 142,695,579 (GRCm39) |
R175H |
probably damaging |
Het |
| Klri2 |
T |
G |
6: 129,717,251 (GRCm39) |
E44A |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,180 (GRCm39) |
T1773K |
probably damaging |
Het |
| Lair1 |
A |
G |
7: 4,013,785 (GRCm39) |
L154P |
probably damaging |
Het |
| Larp1b |
G |
A |
3: 40,924,996 (GRCm39) |
V158M |
probably damaging |
Het |
| Lgi3 |
T |
A |
14: 70,772,280 (GRCm39) |
I275N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,202,486 (GRCm39) |
N246D |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,605,733 (GRCm39) |
|
probably benign |
Het |
| Mdh2 |
G |
T |
5: 135,818,533 (GRCm39) |
V263L |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,341,688 (GRCm39) |
V149E |
probably damaging |
Het |
| Nanos1 |
A |
T |
19: 60,745,479 (GRCm39) |
D259V |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,294,725 (GRCm39) |
|
probably benign |
Het |
| Npas3 |
A |
G |
12: 53,878,528 (GRCm39) |
Y150C |
probably damaging |
Het |
| Or10ab4 |
A |
T |
7: 107,655,170 (GRCm39) |
H327L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,911 (GRCm39) |
V161D |
possibly damaging |
Het |
| Or2h1b |
C |
T |
17: 37,462,446 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or2y1f |
A |
T |
11: 49,184,165 (GRCm39) |
I6F |
probably benign |
Het |
| Or52e15 |
G |
A |
7: 104,645,913 (GRCm39) |
A66V |
probably damaging |
Het |
| Or8k28 |
T |
C |
2: 86,286,363 (GRCm39) |
N84S |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,725 (GRCm39) |
N637S |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,702,740 (GRCm39) |
V824D |
possibly damaging |
Het |
| Pole2 |
A |
T |
12: 69,269,160 (GRCm39) |
|
probably benign |
Het |
| Ppig |
C |
T |
2: 69,566,320 (GRCm39) |
|
probably benign |
Het |
| Prep |
A |
G |
10: 44,968,772 (GRCm39) |
Y90C |
probably damaging |
Het |
| Proca1 |
A |
T |
11: 78,085,731 (GRCm39) |
R11S |
probably damaging |
Het |
| Prph |
T |
A |
15: 98,954,872 (GRCm39) |
W313R |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,100,444 (GRCm39) |
P1983S |
probably benign |
Het |
| Ptbp2 |
G |
A |
3: 119,517,847 (GRCm39) |
|
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,808,031 (GRCm39) |
P398L |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,720,793 (GRCm39) |
I1379V |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,058,430 (GRCm39) |
G53E |
probably damaging |
Het |
| Slc9a3 |
T |
C |
13: 74,305,903 (GRCm39) |
|
probably null |
Het |
| Smarcal1 |
A |
T |
1: 72,665,632 (GRCm39) |
H710L |
probably benign |
Het |
| Soat2 |
GAGAAG |
GAG |
15: 102,059,142 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,881,045 (GRCm39) |
V438A |
probably damaging |
Het |
| Sstr4 |
T |
A |
2: 148,238,181 (GRCm39) |
V264D |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,745 (GRCm39) |
L418P |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,528 (GRCm39) |
V1475A |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,695,499 (GRCm39) |
|
probably null |
Het |
| Tesk1 |
A |
G |
4: 43,446,000 (GRCm39) |
E311G |
probably damaging |
Het |
| Tmed5 |
A |
T |
5: 108,273,882 (GRCm39) |
V119E |
probably damaging |
Het |
| Tmem260 |
T |
C |
14: 48,724,324 (GRCm39) |
S201P |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,890,707 (GRCm39) |
Y350C |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,825,624 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
A |
T |
11: 87,037,794 (GRCm39) |
D161V |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,751,366 (GRCm39) |
Q1640K |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,667,172 (GRCm39) |
|
probably benign |
Het |
| Ttk |
T |
A |
9: 83,729,313 (GRCm39) |
|
probably benign |
Het |
| Vmn1r172 |
A |
G |
7: 23,359,957 (GRCm39) |
S281G |
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,022 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,661 (GRCm39) |
V85I |
probably damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,643 (GRCm39) |
I436V |
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,240,765 (GRCm39) |
K116R |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,513 (GRCm39) |
I245L |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,008,216 (GRCm39) |
|
probably benign |
Het |
| Xrcc3 |
A |
T |
12: 111,776,391 (GRCm39) |
H67Q |
probably benign |
Het |
| Zbbx |
A |
T |
3: 74,985,802 (GRCm39) |
S417T |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,560,922 (GRCm39) |
D504G |
unknown |
Het |
| Zfp1005 |
G |
A |
2: 150,109,973 (GRCm39) |
G221D |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zyg11b |
A |
T |
4: 108,112,505 (GRCm39) |
F388I |
probably damaging |
Het |
|
| Other mutations in Szt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Szt2
|
APN |
4 |
118,241,447 (GRCm39) |
splice site |
probably benign |
|
|
IGL01082:Szt2
|
APN |
4 |
118,254,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01348:Szt2
|
APN |
4 |
118,250,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL01869:Szt2
|
APN |
4 |
118,256,268 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01918:Szt2
|
APN |
4 |
118,241,450 (GRCm39) |
splice site |
probably benign |
|
|
IGL01951:Szt2
|
APN |
4 |
118,233,690 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01971:Szt2
|
APN |
4 |
118,244,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02047:Szt2
|
APN |
4 |
118,233,834 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02092:Szt2
|
APN |
4 |
118,220,529 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02120:Szt2
|
APN |
4 |
118,245,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02210:Szt2
|
APN |
4 |
118,247,020 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02435:Szt2
|
APN |
4 |
118,248,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Szt2
|
APN |
4 |
118,250,087 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02666:Szt2
|
APN |
4 |
118,231,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02712:Szt2
|
APN |
4 |
118,242,030 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02983:Szt2
|
APN |
4 |
118,222,976 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03026:Szt2
|
APN |
4 |
118,249,046 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03178:Szt2
|
APN |
4 |
118,239,886 (GRCm39) |
missense |
unknown |
|
|
IGL03233:Szt2
|
APN |
4 |
118,229,726 (GRCm39) |
missense |
unknown |
|
|
IGL03377:Szt2
|
APN |
4 |
118,259,594 (GRCm39) |
splice site |
probably benign |
|
|
IGL03387:Szt2
|
APN |
4 |
118,221,922 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4687001:Szt2
|
UTSW |
4 |
118,255,398 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0026:Szt2
|
UTSW |
4 |
118,241,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0352:Szt2
|
UTSW |
4 |
118,239,790 (GRCm39) |
missense |
unknown |
|
|
R0504:Szt2
|
UTSW |
4 |
118,230,149 (GRCm39) |
splice site |
probably null |
|
|
R1033:Szt2
|
UTSW |
4 |
118,244,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1222:Szt2
|
UTSW |
4 |
118,262,656 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1418:Szt2
|
UTSW |
4 |
118,244,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1462:Szt2
|
UTSW |
4 |
118,231,164 (GRCm39) |
missense |
unknown |
|
|
R1462:Szt2
|
UTSW |
4 |
118,231,164 (GRCm39) |
missense |
unknown |
|
|
R1763:Szt2
|
UTSW |
4 |
118,229,565 (GRCm39) |
missense |
unknown |
|
|
R1772:Szt2
|
UTSW |
4 |
118,262,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1840:Szt2
|
UTSW |
4 |
118,222,854 (GRCm39) |
unclassified |
probably benign |
|
|
R1942:Szt2
|
UTSW |
4 |
118,249,817 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1965:Szt2
|
UTSW |
4 |
118,241,162 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1998:Szt2
|
UTSW |
4 |
118,232,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2009:Szt2
|
UTSW |
4 |
118,235,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2012:Szt2
|
UTSW |
4 |
118,220,862 (GRCm39) |
unclassified |
probably benign |
|
|
R2044:Szt2
|
UTSW |
4 |
118,233,645 (GRCm39) |
nonsense |
probably null |
|
|
R2066:Szt2
|
UTSW |
4 |
118,231,177 (GRCm39) |
missense |
unknown |
|
|
R2345:Szt2
|
UTSW |
4 |
118,238,594 (GRCm39) |
missense |
unknown |
|
|
R2857:Szt2
|
UTSW |
4 |
118,226,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Szt2
|
UTSW |
4 |
118,260,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3236:Szt2
|
UTSW |
4 |
118,240,231 (GRCm39) |
splice site |
probably null |
|
|
R3237:Szt2
|
UTSW |
4 |
118,240,231 (GRCm39) |
splice site |
probably null |
|
|
R3405:Szt2
|
UTSW |
4 |
118,251,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3795:Szt2
|
UTSW |
4 |
118,248,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3878:Szt2
|
UTSW |
4 |
118,247,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Szt2
|
UTSW |
4 |
118,235,466 (GRCm39) |
unclassified |
probably benign |
|
|
R4012:Szt2
|
UTSW |
4 |
118,241,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4039:Szt2
|
UTSW |
4 |
118,222,149 (GRCm39) |
unclassified |
probably benign |
|
|
R4081:Szt2
|
UTSW |
4 |
118,230,764 (GRCm39) |
splice site |
probably benign |
|
|
R4298:Szt2
|
UTSW |
4 |
118,222,603 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:Szt2
|
UTSW |
4 |
118,222,603 (GRCm39) |
unclassified |
probably benign |
|
|
R4432:Szt2
|
UTSW |
4 |
118,241,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4597:Szt2
|
UTSW |
4 |
118,229,878 (GRCm39) |
missense |
unknown |
|
|
R4657:Szt2
|
UTSW |
4 |
118,254,866 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4663:Szt2
|
UTSW |
4 |
118,234,881 (GRCm39) |
unclassified |
probably benign |
|
|
R4670:Szt2
|
UTSW |
4 |
118,233,026 (GRCm39) |
unclassified |
probably benign |
|
|
R4704:Szt2
|
UTSW |
4 |
118,251,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4748:Szt2
|
UTSW |
4 |
118,246,388 (GRCm39) |
nonsense |
probably null |
|
|
R4786:Szt2
|
UTSW |
4 |
118,256,259 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4809:Szt2
|
UTSW |
4 |
118,246,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Szt2
|
UTSW |
4 |
118,226,445 (GRCm39) |
missense |
unknown |
|
|
R4944:Szt2
|
UTSW |
4 |
118,245,866 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5077:Szt2
|
UTSW |
4 |
118,226,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5121:Szt2
|
UTSW |
4 |
118,242,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5140:Szt2
|
UTSW |
4 |
118,244,178 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5169:Szt2
|
UTSW |
4 |
118,247,027 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5198:Szt2
|
UTSW |
4 |
118,245,519 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5433:Szt2
|
UTSW |
4 |
118,232,663 (GRCm39) |
unclassified |
probably benign |
|
|
R5625:Szt2
|
UTSW |
4 |
118,230,414 (GRCm39) |
missense |
unknown |
|
|
R5628:Szt2
|
UTSW |
4 |
118,230,414 (GRCm39) |
missense |
unknown |
|
|
R5630:Szt2
|
UTSW |
4 |
118,250,102 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5808:Szt2
|
UTSW |
4 |
118,229,810 (GRCm39) |
missense |
unknown |
|
|
R5902:Szt2
|
UTSW |
4 |
118,248,700 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6049:Szt2
|
UTSW |
4 |
118,260,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6066:Szt2
|
UTSW |
4 |
118,229,171 (GRCm39) |
missense |
unknown |
|
|
R6272:Szt2
|
UTSW |
4 |
118,231,487 (GRCm39) |
unclassified |
probably benign |
|
|
R6456:Szt2
|
UTSW |
4 |
118,233,894 (GRCm39) |
unclassified |
probably benign |
|
|
R6538:Szt2
|
UTSW |
4 |
118,247,674 (GRCm39) |
splice site |
probably null |
|
|
R6604:Szt2
|
UTSW |
4 |
118,242,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6664:Szt2
|
UTSW |
4 |
118,248,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Szt2
|
UTSW |
4 |
118,245,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7109:Szt2
|
UTSW |
4 |
118,232,676 (GRCm39) |
missense |
unknown |
|
|
R7163:Szt2
|
UTSW |
4 |
118,262,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7190:Szt2
|
UTSW |
4 |
118,246,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7289:Szt2
|
UTSW |
4 |
118,233,075 (GRCm39) |
missense |
unknown |
|
|
R7291:Szt2
|
UTSW |
4 |
118,248,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7383:Szt2
|
UTSW |
4 |
118,222,411 (GRCm39) |
nonsense |
probably null |
|
|
R7448:Szt2
|
UTSW |
4 |
118,220,668 (GRCm39) |
missense |
unknown |
|
|
R7637:Szt2
|
UTSW |
4 |
118,251,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7833:Szt2
|
UTSW |
4 |
118,223,416 (GRCm39) |
missense |
unknown |
|
|
R7896:Szt2
|
UTSW |
4 |
118,260,110 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7923:Szt2
|
UTSW |
4 |
118,231,037 (GRCm39) |
missense |
unknown |
|
|
R8090:Szt2
|
UTSW |
4 |
118,244,199 (GRCm39) |
splice site |
probably null |
|
|
R8103:Szt2
|
UTSW |
4 |
118,245,061 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8288:Szt2
|
UTSW |
4 |
118,246,973 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8309:Szt2
|
UTSW |
4 |
118,232,679 (GRCm39) |
frame shift |
probably null |
|
|
R8341:Szt2
|
UTSW |
4 |
118,250,033 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8480:Szt2
|
UTSW |
4 |
118,244,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8497:Szt2
|
UTSW |
4 |
118,245,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8549:Szt2
|
UTSW |
4 |
118,229,878 (GRCm39) |
missense |
unknown |
|
|
R8768:Szt2
|
UTSW |
4 |
118,226,613 (GRCm39) |
missense |
unknown |
|
|
R8992:Szt2
|
UTSW |
4 |
118,239,985 (GRCm39) |
splice site |
probably benign |
|
|
R9001:Szt2
|
UTSW |
4 |
118,235,529 (GRCm39) |
missense |
unknown |
|
|
R9094:Szt2
|
UTSW |
4 |
118,242,651 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9110:Szt2
|
UTSW |
4 |
118,242,630 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9129:Szt2
|
UTSW |
4 |
118,221,866 (GRCm39) |
missense |
unknown |
|
|
R9184:Szt2
|
UTSW |
4 |
118,241,726 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9186:Szt2
|
UTSW |
4 |
118,242,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Szt2
|
UTSW |
4 |
118,248,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Szt2
|
UTSW |
4 |
118,266,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0023:Szt2
|
UTSW |
4 |
118,229,601 (GRCm39) |
missense |
unknown |
|
|
Z1176:Szt2
|
UTSW |
4 |
118,251,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Szt2
|
UTSW |
4 |
118,248,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCACTTGCACACAGCCCTC -3'
(R):5'- AGCATCCTTTTCAGACTCAGCCAC -3'
Sequencing Primer
(F):5'- TTACACCTGGTATAGTGCCACAG -3'
(R):5'- ATAGAATCCGTGGCTTCAGC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation