Incidental Mutation 'R1840:Szt2'
| ID |
205679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
039866-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R1840 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 118222854 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: N3136K
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: N3136K
| 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: ENSMUST00000138632
|
| 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: 97.5%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,236 (GRCm39) |
M85L |
probably benign |
Het |
| Aatk |
T |
G |
11: 119,904,558 (GRCm39) |
D206A |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,705,229 (GRCm39) |
D719G |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,251,872 (GRCm39) |
R1797C |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,566,257 (GRCm39) |
M734K |
probably benign |
Het |
| Asph |
T |
A |
4: 9,601,340 (GRCm39) |
M136L |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,858,791 (GRCm39) |
H1158R |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,421,032 (GRCm39) |
|
probably null |
Het |
| BC024139 |
G |
T |
15: 76,004,842 (GRCm39) |
S611R |
probably benign |
Het |
| Becn1 |
C |
T |
11: 101,186,392 (GRCm39) |
G105S |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,197,706 (GRCm39) |
E70G |
probably damaging |
Het |
| Cacul1 |
A |
T |
19: 60,522,688 (GRCm39) |
L282* |
probably null |
Het |
| Catspere2 |
A |
G |
1: 177,830,581 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ccar1 |
T |
A |
10: 62,599,289 (GRCm39) |
K614M |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,455 (GRCm39) |
T189A |
probably benign |
Het |
| Cdh5 |
C |
A |
8: 104,853,248 (GRCm39) |
Y189* |
probably null |
Het |
| Chka |
A |
G |
19: 3,936,460 (GRCm39) |
N284S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,751,441 (GRCm39) |
I366F |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,470,560 (GRCm39) |
G3372E |
probably damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,761,980 (GRCm39) |
|
probably null |
Het |
| Dcaf6 |
A |
G |
1: 165,227,317 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,422,587 (GRCm39) |
I608N |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,725,024 (GRCm39) |
C1849* |
probably null |
Het |
| Eci3 |
C |
A |
13: 35,144,024 (GRCm39) |
V34L |
probably benign |
Het |
| Eif1ad9 |
T |
C |
12: 88,296,181 (GRCm39) |
V53A |
probably benign |
Het |
| Entrep2 |
C |
A |
7: 64,408,943 (GRCm39) |
V484L |
probably benign |
Het |
| Epha1 |
C |
T |
6: 42,340,522 (GRCm39) |
R583H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,455 (GRCm39) |
N720K |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,299,728 (GRCm39) |
R346* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,353,128 (GRCm39) |
T699I |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,995 (GRCm39) |
V427A |
possibly damaging |
Het |
| Frey1 |
T |
C |
2: 92,213,554 (GRCm39) |
S36P |
probably benign |
Het |
| Fzd9 |
T |
A |
5: 135,278,425 (GRCm39) |
T487S |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,258,113 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Gm10269 |
T |
C |
18: 20,815,866 (GRCm39) |
K52R |
probably damaging |
Het |
| Gm8674 |
A |
T |
13: 50,055,801 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
| Gramd4 |
T |
C |
15: 86,014,393 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,500 (GRCm39) |
L403P |
probably benign |
Het |
| H6pd |
A |
T |
4: 150,066,507 (GRCm39) |
D626E |
possibly damaging |
Het |
| Herc6 |
T |
A |
6: 57,635,091 (GRCm39) |
L769* |
probably null |
Het |
| Hes5 |
A |
G |
4: 155,045,711 (GRCm39) |
K58R |
probably damaging |
Het |
| Heyl |
A |
G |
4: 123,135,183 (GRCm39) |
I59V |
probably damaging |
Het |
| Hpca |
A |
G |
4: 129,012,393 (GRCm39) |
F48L |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,754,337 (GRCm39) |
R583Q |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,817,191 (GRCm39) |
I390F |
probably damaging |
Het |
| Kat5 |
C |
T |
19: 5,659,266 (GRCm39) |
V95M |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,636,167 (GRCm39) |
I827F |
possibly damaging |
Het |
| Kif1b |
C |
T |
4: 149,272,589 (GRCm39) |
R138Q |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lats1 |
T |
A |
10: 7,586,703 (GRCm39) |
L955* |
probably null |
Het |
| Ldlrad2 |
A |
C |
4: 137,299,495 (GRCm39) |
C110G |
possibly damaging |
Het |
| Lgi3 |
G |
A |
14: 70,772,216 (GRCm39) |
|
probably null |
Het |
| Lingo1 |
A |
G |
9: 56,527,842 (GRCm39) |
M249T |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,849,258 (GRCm39) |
R993* |
probably null |
Het |
| Lsm14b |
T |
A |
2: 179,668,521 (GRCm39) |
I74N |
probably damaging |
Het |
| Lyplal1 |
T |
A |
1: 185,832,414 (GRCm39) |
I114F |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,092,048 (GRCm39) |
Y86C |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,313 (GRCm39) |
E816G |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,157,017 (GRCm39) |
N151S |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,594 (GRCm39) |
E1082V |
possibly damaging |
Het |
| Nrg4 |
A |
C |
9: 55,189,890 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,777,498 (GRCm39) |
L101P |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,639 (GRCm39) |
D52V |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
| Or4p19 |
T |
C |
2: 88,242,411 (GRCm39) |
D197G |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,324 (GRCm39) |
I281V |
probably benign |
Het |
| Or5ak22 |
G |
A |
2: 85,230,512 (GRCm39) |
R122C |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,683,819 (GRCm39) |
E169V |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,256 (GRCm39) |
N130Y |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,552,170 (GRCm39) |
R101H |
probably damaging |
Het |
| Plscr1 |
A |
T |
9: 92,140,127 (GRCm39) |
S5C |
unknown |
Het |
| Plxdc2 |
T |
C |
2: 16,674,667 (GRCm39) |
V338A |
probably benign |
Het |
| Psg23 |
T |
A |
7: 18,344,363 (GRCm39) |
N364I |
possibly damaging |
Het |
| Psmg4 |
A |
G |
13: 34,362,039 (GRCm39) |
E109G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,082,733 (GRCm39) |
E908G |
probably damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,519,048 (GRCm39) |
R26H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,314,588 (GRCm39) |
N1769K |
probably benign |
Het |
| Rbm14 |
C |
T |
19: 4,851,823 (GRCm39) |
|
probably benign |
Het |
| Rgs7 |
A |
T |
1: 174,980,714 (GRCm39) |
D103E |
probably damaging |
Het |
| Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,978,990 (GRCm39) |
D93E |
probably benign |
Het |
| Rps6ka6 |
A |
G |
X: 110,330,629 (GRCm39) |
I246T |
possibly damaging |
Het |
| Rubcn |
T |
C |
16: 32,646,542 (GRCm39) |
M803V |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,581,165 (GRCm39) |
Y2889C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,957,905 (GRCm39) |
T134A |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,844,543 (GRCm39) |
T122N |
possibly damaging |
Het |
| Slc9b1 |
T |
A |
3: 135,063,229 (GRCm39) |
D4E |
unknown |
Het |
| Smim18 |
A |
G |
8: 34,232,376 (GRCm39) |
M81T |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,697,518 (GRCm39) |
H281Q |
probably damaging |
Het |
| Sparc |
C |
A |
11: 55,286,692 (GRCm39) |
C302F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,932,237 (GRCm39) |
L535P |
probably damaging |
Het |
| Spsb1 |
G |
A |
4: 149,991,088 (GRCm39) |
T160I |
probably damaging |
Het |
| Stra6 |
A |
G |
9: 58,047,813 (GRCm39) |
N128S |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,777 (GRCm39) |
E182G |
probably damaging |
Het |
| Sult2a6 |
A |
G |
7: 13,988,754 (GRCm39) |
M2T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,118,352 (GRCm39) |
N499S |
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,636,972 (GRCm39) |
S372T |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,440,463 (GRCm39) |
S289T |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,830,744 (GRCm39) |
E259G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,330,973 (GRCm39) |
I1390L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,249,325 (GRCm39) |
R921W |
probably damaging |
Het |
| Tmem126a |
C |
A |
7: 90,102,092 (GRCm39) |
G36* |
probably null |
Het |
| Tmem245 |
C |
T |
4: 56,903,947 (GRCm39) |
V606I |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,843,631 (GRCm39) |
D1665G |
probably benign |
Het |
| Ubac2 |
T |
G |
14: 122,231,674 (GRCm39) |
V200G |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,981,161 (GRCm39) |
A2372V |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,219,517 (GRCm39) |
P285S |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,406 (GRCm39) |
K369* |
probably null |
Het |
| Xpnpep3 |
G |
T |
15: 81,311,554 (GRCm39) |
A87S |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
| Zdhhc11 |
A |
G |
13: 74,122,771 (GRCm39) |
N169S |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,107,215 (GRCm39) |
D435E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,648,033 (GRCm39) |
D1007G |
possibly 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 |
|
|
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 |
|
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'- TAGTCAGGGTGGGAGATATGCC -3'
(R):5'- CCATCTCACAACATTCCTTGGG -3'
Sequencing Primer
(F):5'- AGATATGCCGCCTCTGAGG -3'
(R):5'- CACAACATTCCTTGGGGGCTTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation