Incidental Mutation 'R2012:Szt2'
ID |
219892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Szt2
|
Ensembl Gene |
ENSMUSG00000033253 |
Gene Name |
SZT2 subunit of KICSTOR complex |
Synonyms |
seaizure threshold 2 |
MMRRC Submission |
040021-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.610)
|
Stock # |
R2012 (G1)
|
Quality Score |
202 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 118220862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141952
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006562]
[ENSMUST00000075406]
[ENSMUST00000106393]
[ENSMUST00000194248]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006562
|
SMART Domains |
Protein: ENSMUSP00000006562 Gene: ENSMUSG00000006395
Domain | Start | End | E-Value | Type |
Pfam:AP_endonuc_2
|
24 |
221 |
4.2e-28 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000075406
AA Change: F3368S
|
SMART Domains |
Protein: ENSMUSP00000074862 Gene: ENSMUSG00000033253 AA Change: F3368S
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 |
probably benign
Transcript: ENSMUST00000106393
|
SMART Domains |
Protein: ENSMUSP00000102001 Gene: ENSMUSG00000006395
Domain | Start | End | E-Value | Type |
SCOP:d1k77a_
|
4 |
67 |
4e-10 |
SMART |
PDB:1K77|A
|
5 |
69 |
5e-7 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179719
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194248
|
SMART Domains |
Protein: ENSMUSP00000141952 Gene: ENSMUSG00000006395
Domain | Start | End | E-Value | Type |
SCOP:d1k77a_
|
4 |
77 |
3e-10 |
SMART |
PDB:1K77|A
|
5 |
76 |
6e-8 |
PDB |
low complexity region
|
246 |
260 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
|
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: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
T |
5: 8,167,634 (GRCm39) |
S675R |
probably damaging |
Het |
Akap5 |
A |
T |
12: 76,376,122 (GRCm39) |
H518L |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
Aox3 |
A |
T |
1: 58,177,391 (GRCm39) |
Y202F |
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,637,427 (GRCm39) |
L412F |
possibly damaging |
Het |
B4galt3 |
C |
T |
1: 171,100,118 (GRCm39) |
P121L |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,097,178 (GRCm39) |
R640Q |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,761,900 (GRCm39) |
Y128N |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,372,222 (GRCm39) |
E173G |
probably damaging |
Het |
C1qtnf1 |
T |
A |
11: 118,339,110 (GRCm39) |
F260Y |
probably benign |
Het |
Ccdc14 |
G |
T |
16: 34,511,092 (GRCm39) |
G22V |
possibly damaging |
Het |
Ccnc |
A |
T |
4: 21,741,955 (GRCm39) |
I135L |
possibly damaging |
Het |
Chd3 |
T |
C |
11: 69,239,878 (GRCm39) |
D1650G |
probably benign |
Het |
Cherp |
A |
C |
8: 73,228,613 (GRCm39) |
N14K |
probably damaging |
Het |
Clint1 |
C |
T |
11: 45,784,919 (GRCm39) |
T306I |
possibly damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,335,315 (GRCm39) |
Y85N |
probably damaging |
Het |
D830013O20Rik |
A |
G |
12: 73,418,162 (GRCm39) |
|
noncoding transcript |
Het |
Dapk1 |
A |
T |
13: 60,869,671 (GRCm39) |
K304N |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,044,449 (GRCm39) |
N3169Y |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,169,589 (GRCm39) |
I296K |
probably benign |
Het |
Elp2 |
A |
T |
18: 24,764,515 (GRCm39) |
T621S |
probably benign |
Het |
Eml6 |
G |
T |
11: 29,781,128 (GRCm39) |
Q635K |
possibly damaging |
Het |
Exph5 |
G |
A |
9: 53,278,466 (GRCm39) |
M192I |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Gas6 |
C |
T |
8: 13,518,266 (GRCm39) |
V523M |
probably damaging |
Het |
Ggn |
A |
T |
7: 28,873,188 (GRCm39) |
|
probably null |
Het |
Gimap8 |
A |
G |
6: 48,633,287 (GRCm39) |
T369A |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,724,080 (GRCm39) |
I790T |
probably damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,252,790 (GRCm39) |
A354V |
probably damaging |
Het |
Habp4 |
G |
A |
13: 64,317,995 (GRCm39) |
|
probably null |
Het |
Has2 |
A |
G |
15: 56,531,264 (GRCm39) |
W484R |
probably damaging |
Het |
Herc4 |
G |
T |
10: 63,079,817 (GRCm39) |
|
probably benign |
Het |
Igf2 |
C |
A |
7: 142,208,136 (GRCm39) |
E106D |
probably damaging |
Het |
Il17rb |
A |
T |
14: 29,718,797 (GRCm39) |
C428* |
probably null |
Het |
Ipo11 |
A |
T |
13: 107,056,130 (GRCm39) |
N47K |
probably benign |
Het |
Itga4 |
T |
G |
2: 79,108,138 (GRCm39) |
S197A |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,417,497 (GRCm39) |
M1788K |
probably benign |
Het |
Kbtbd3 |
C |
T |
9: 4,330,919 (GRCm39) |
T431I |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,075,044 (GRCm39) |
V523E |
probably benign |
Het |
Klhl41 |
A |
T |
2: 69,513,840 (GRCm39) |
D573V |
possibly damaging |
Het |
Kndc1 |
C |
A |
7: 139,501,196 (GRCm39) |
H828Q |
possibly damaging |
Het |
Leng8 |
T |
A |
7: 4,146,609 (GRCm39) |
V407D |
probably damaging |
Het |
Mamdc2 |
C |
T |
19: 23,288,215 (GRCm39) |
E608K |
probably benign |
Het |
Mcf2 |
T |
A |
X: 59,122,574 (GRCm39) |
R850S |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,576,831 (GRCm39) |
N618S |
probably benign |
Het |
Morn5 |
A |
T |
2: 35,942,950 (GRCm39) |
M17L |
probably benign |
Het |
Nme8 |
T |
C |
13: 19,881,053 (GRCm39) |
N26S |
probably damaging |
Het |
Nostrin |
C |
A |
2: 68,975,111 (GRCm39) |
|
probably null |
Het |
Npy4r |
T |
A |
14: 33,869,154 (GRCm39) |
I45F |
possibly damaging |
Het |
Or13a21 |
T |
A |
7: 139,999,024 (GRCm39) |
I221F |
probably damaging |
Het |
Or1j11 |
A |
G |
2: 36,311,931 (GRCm39) |
I174V |
probably benign |
Het |
Or2aj5 |
C |
T |
16: 19,424,881 (GRCm39) |
C179Y |
probably benign |
Het |
Or2w1 |
T |
A |
13: 21,317,659 (GRCm39) |
M238K |
probably benign |
Het |
Or2w3b |
T |
C |
11: 58,623,214 (GRCm39) |
Y259C |
possibly damaging |
Het |
Or4a70 |
A |
G |
2: 89,324,342 (GRCm39) |
F105L |
probably benign |
Het |
Or5d36 |
A |
G |
2: 87,901,063 (GRCm39) |
V221A |
probably benign |
Het |
Oxt |
A |
G |
2: 130,418,572 (GRCm39) |
D61G |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,917,181 (GRCm39) |
L676P |
probably damaging |
Het |
Pcdhb20 |
G |
A |
18: 37,638,127 (GRCm39) |
G218R |
probably damaging |
Het |
Pdgfrb |
T |
A |
18: 61,194,566 (GRCm39) |
S114R |
probably benign |
Het |
Pfdn5 |
A |
G |
15: 102,234,956 (GRCm39) |
N54S |
possibly damaging |
Het |
Phldb1 |
G |
T |
9: 44,639,333 (GRCm39) |
T15N |
possibly damaging |
Het |
Pink1 |
A |
C |
4: 138,045,316 (GRCm39) |
S253A |
probably null |
Het |
Plag1 |
A |
T |
4: 3,904,870 (GRCm39) |
L107Q |
probably damaging |
Het |
Pld5 |
C |
A |
1: 175,791,579 (GRCm39) |
V476L |
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,637 (GRCm39) |
D121E |
probably benign |
Het |
Prrt2 |
C |
T |
7: 126,618,581 (GRCm39) |
A295T |
probably damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,668 (GRCm39) |
I76V |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,001,026 (GRCm39) |
T1039A |
probably benign |
Het |
Rbm20 |
G |
A |
19: 53,847,859 (GRCm39) |
C1135Y |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,787,923 (GRCm39) |
N465K |
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,187,872 (GRCm39) |
S510G |
probably benign |
Het |
Satb1 |
G |
A |
17: 52,089,816 (GRCm39) |
Q344* |
probably null |
Het |
Sdr16c5 |
A |
G |
4: 3,996,244 (GRCm39) |
I283T |
probably benign |
Het |
Serpinb3c |
T |
C |
1: 107,199,574 (GRCm39) |
S316G |
possibly damaging |
Het |
Siglec1 |
A |
T |
2: 130,925,277 (GRCm39) |
Y395N |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,651,701 (GRCm39) |
I5V |
probably benign |
Het |
Slc27a2 |
T |
C |
2: 126,395,535 (GRCm39) |
V154A |
probably damaging |
Het |
Slc27a5 |
A |
G |
7: 12,731,634 (GRCm39) |
L119S |
probably damaging |
Het |
Slc35g2 |
T |
A |
9: 100,435,120 (GRCm39) |
T184S |
possibly damaging |
Het |
Slc4a7 |
C |
T |
14: 14,733,727 (GRCm38) |
R46* |
probably null |
Het |
Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
Spag9 |
T |
A |
11: 93,983,201 (GRCm39) |
L504* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,850,370 (GRCm39) |
I586T |
possibly damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,041 (GRCm39) |
E194D |
possibly damaging |
Het |
Spats2 |
A |
G |
15: 99,076,375 (GRCm39) |
E151G |
probably damaging |
Het |
Sugp2 |
T |
A |
8: 70,695,861 (GRCm39) |
L278Q |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,207,322 (GRCm39) |
|
probably benign |
Het |
Syde2 |
G |
T |
3: 145,694,163 (GRCm39) |
G137V |
possibly damaging |
Het |
Synj1 |
A |
T |
16: 90,735,584 (GRCm39) |
F1456L |
probably damaging |
Het |
Timd4 |
C |
A |
11: 46,710,857 (GRCm39) |
T253K |
possibly damaging |
Het |
Tlr3 |
G |
T |
8: 45,855,823 (GRCm39) |
T119N |
possibly damaging |
Het |
Tmc6 |
A |
G |
11: 117,660,232 (GRCm39) |
Y669H |
probably damaging |
Het |
Tmem221 |
T |
C |
8: 72,008,458 (GRCm39) |
E194G |
probably benign |
Het |
Tmem232 |
C |
A |
17: 65,807,167 (GRCm39) |
V9F |
probably benign |
Het |
Tpm1 |
G |
A |
9: 66,941,247 (GRCm39) |
Q135* |
probably null |
Het |
Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,665,917 (GRCm39) |
Y896* |
probably null |
Het |
Tuba4a |
A |
T |
1: 75,192,983 (GRCm39) |
Y210* |
probably null |
Het |
Tut7 |
A |
G |
13: 59,959,352 (GRCm39) |
V372A |
probably damaging |
Het |
Vegfa |
T |
G |
17: 46,336,284 (GRCm39) |
I279L |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,349,804 (GRCm39) |
T593S |
probably damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,536,840 (GRCm39) |
I508V |
probably benign |
Het |
Vps33a |
G |
T |
5: 123,669,244 (GRCm39) |
|
probably null |
Het |
Wasl |
T |
A |
6: 24,624,360 (GRCm39) |
N231I |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,578,703 (GRCm39) |
N426D |
probably benign |
Het |
Zeb2 |
T |
G |
2: 44,887,962 (GRCm39) |
H350P |
probably damaging |
Het |
Zfp112 |
T |
C |
7: 23,824,725 (GRCm39) |
F231S |
possibly damaging |
Het |
Zfp180 |
T |
C |
7: 23,803,943 (GRCm39) |
S121P |
probably benign |
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 |
|
R0396:Szt2
|
UTSW |
4 |
118,233,544 (GRCm39) |
unclassified |
probably benign |
|
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 |
|
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'- AACCACCGTCAGAGACTGTG -3'
(R):5'- TTCTGACAGACAGGTTGAGGG -3'
Sequencing Primer
(F):5'- CCGTCAGAGACTGTGGGGAAC -3'
(R):5'- ACAGGTTGAGGGAGGCCC -3'
|
Posted On |
2014-08-25 |