Incidental Mutation 'R4657:Szt2'
| ID |
352504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
041917-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R4657 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118254866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 275
(C275S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075406
AA Change: C275S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: C275S
| 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 |
|
| Meta Mutation Damage Score |
0.1295 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (105/107) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,904,304 (GRCm39) |
V264E |
possibly damaging |
Het |
| Abcg1 |
T |
A |
17: 31,327,408 (GRCm39) |
W368R |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,504 (GRCm39) |
I476T |
possibly damaging |
Het |
| Acsm1 |
T |
A |
7: 119,239,917 (GRCm39) |
I287N |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,553,483 (GRCm39) |
V5464I |
probably benign |
Het |
| AI429214 |
T |
A |
8: 37,461,545 (GRCm39) |
L231Q |
probably damaging |
Het |
| Akp3 |
A |
G |
1: 87,053,556 (GRCm39) |
|
probably benign |
Het |
| Amy2b |
C |
T |
3: 113,060,793 (GRCm39) |
|
noncoding transcript |
Het |
| Apoa5 |
A |
G |
9: 46,181,170 (GRCm39) |
Q82R |
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,896,278 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
C |
A |
3: 132,940,442 (GRCm39) |
G48V |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,109,079 (GRCm39) |
F1099L |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,975,955 (GRCm39) |
N1786K |
probably benign |
Het |
| Cav2 |
A |
T |
6: 17,281,409 (GRCm39) |
D17V |
probably null |
Het |
| Ccdc148 |
G |
T |
2: 58,891,900 (GRCm39) |
N238K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,981 (GRCm39) |
I463F |
probably damaging |
Het |
| Cd8b1 |
C |
T |
6: 71,306,758 (GRCm39) |
H162Y |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,858 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,964,513 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
T |
C |
6: 123,209,155 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
T |
A |
8: 123,861,314 (GRCm39) |
*558R |
probably null |
Het |
| Cs |
A |
G |
10: 128,189,006 (GRCm39) |
I172V |
probably benign |
Het |
| Cyp2ab1 |
A |
T |
16: 20,131,822 (GRCm39) |
L306Q |
probably damaging |
Het |
| D16Ertd472e |
A |
T |
16: 78,344,814 (GRCm39) |
V98E |
probably damaging |
Het |
| Dcaf15 |
A |
C |
8: 84,829,467 (GRCm39) |
S92A |
probably damaging |
Het |
| Dkk3 |
T |
C |
7: 111,748,253 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,156,162 (GRCm39) |
C163S |
probably benign |
Het |
| Eda2r |
T |
A |
X: 96,385,239 (GRCm39) |
Q171L |
probably damaging |
Het |
| Eml4 |
A |
T |
17: 83,758,377 (GRCm39) |
K397* |
probably null |
Het |
| Eml6 |
A |
T |
11: 29,755,108 (GRCm39) |
I889N |
possibly damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,964 (GRCm39) |
D384E |
possibly damaging |
Het |
| Fzr1 |
T |
A |
10: 81,203,386 (GRCm39) |
|
probably null |
Het |
| Gm13889 |
G |
T |
2: 93,786,921 (GRCm39) |
F61L |
probably damaging |
Het |
| Gm14149 |
A |
T |
2: 151,072,684 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
T |
A |
1: 16,839,642 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
G |
A |
5: 52,740,262 (GRCm39) |
|
noncoding transcript |
Het |
| Gp2 |
T |
C |
7: 119,056,391 (GRCm39) |
I27M |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,279 (GRCm39) |
|
probably null |
Het |
| Gucd1 |
T |
C |
10: 75,346,959 (GRCm39) |
N97S |
probably benign |
Het |
| H2bc27 |
C |
T |
11: 58,839,797 (GRCm39) |
P11L |
probably benign |
Het |
| H2-Q7 |
T |
A |
17: 35,661,735 (GRCm39) |
V326E |
possibly damaging |
Het |
| Haao |
A |
T |
17: 84,139,774 (GRCm39) |
D227E |
possibly damaging |
Het |
| Hipk3 |
C |
T |
2: 104,264,104 (GRCm39) |
S819N |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,063,557 (GRCm39) |
V501A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,500,301 (GRCm39) |
Y3964H |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
| Ifi211 |
A |
G |
1: 173,735,226 (GRCm39) |
F68L |
probably benign |
Het |
| Ift57 |
A |
G |
16: 49,582,957 (GRCm39) |
|
probably null |
Het |
| Ighv5-12-4 |
A |
T |
12: 113,725,887 (GRCm39) |
L112* |
probably null |
Het |
| Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
| Il36a |
T |
A |
2: 24,114,416 (GRCm39) |
M97K |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,763,197 (GRCm39) |
*1686W |
probably null |
Het |
| Jkamp |
G |
T |
12: 72,140,823 (GRCm39) |
V123F |
probably damaging |
Het |
| Kat7 |
C |
A |
11: 95,168,424 (GRCm39) |
V411L |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,973 (GRCm39) |
V114A |
probably benign |
Het |
| Krtap5-4 |
T |
A |
7: 141,857,491 (GRCm39) |
C54S |
unknown |
Het |
| Lats1 |
T |
A |
10: 7,581,448 (GRCm39) |
N744K |
possibly damaging |
Het |
| Lpo |
T |
C |
11: 87,705,173 (GRCm39) |
E387G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,644,471 (GRCm39) |
M388R |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,297,337 (GRCm39) |
R3208L |
probably damaging |
Het |
| Mterf1b |
T |
A |
5: 4,247,176 (GRCm39) |
C272* |
probably null |
Het |
| Myh15 |
A |
T |
16: 48,992,421 (GRCm39) |
R1632* |
probably null |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,782,699 (GRCm39) |
|
probably null |
Het |
| Nelfa |
T |
G |
5: 34,059,157 (GRCm39) |
S233R |
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,051,522 (GRCm39) |
E121V |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,933,116 (GRCm39) |
E5406D |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,415 (GRCm39) |
Y27* |
probably null |
Het |
| Or7e177 |
A |
C |
9: 20,211,919 (GRCm39) |
H142P |
probably damaging |
Het |
| Oxct2b |
T |
C |
4: 123,010,926 (GRCm39) |
L282P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,233,033 (GRCm39) |
|
probably null |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,900 (GRCm39) |
I335M |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,354 (GRCm39) |
D726E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,434,391 (GRCm39) |
Q2349L |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,743 (GRCm39) |
C2750Y |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,476,821 (GRCm38) |
C26R |
unknown |
Het |
| Prex2 |
T |
A |
1: 11,136,049 (GRCm39) |
I74N |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,641,071 (GRCm39) |
D121G |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Ralbp1 |
T |
C |
17: 66,159,686 (GRCm39) |
S526G |
probably null |
Het |
| Ric8b |
T |
C |
10: 84,828,001 (GRCm39) |
Y442H |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,605,487 (GRCm39) |
D385N |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,601,424 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,356,415 (GRCm39) |
I363T |
possibly damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,680,876 (GRCm39) |
L95P |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,962,221 (GRCm39) |
T385A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slc7a1 |
T |
A |
5: 148,289,209 (GRCm39) |
M13L |
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,912,893 (GRCm39) |
N172S |
possibly damaging |
Het |
| Spns1 |
G |
T |
7: 125,973,474 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
T |
A |
2: 162,775,347 (GRCm39) |
S86R |
probably benign |
Het |
| Stk25 |
A |
T |
1: 93,553,378 (GRCm39) |
|
probably benign |
Het |
| Tcp10b |
T |
A |
17: 13,292,504 (GRCm39) |
|
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,260,615 (GRCm39) |
L60H |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,930 (GRCm39) |
I182T |
probably damaging |
Het |
| Tspan10 |
A |
G |
11: 120,335,324 (GRCm39) |
N145D |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,801,412 (GRCm39) |
F487S |
probably damaging |
Het |
| Wdr86 |
A |
T |
5: 24,923,229 (GRCm39) |
D154E |
probably benign |
Het |
| Wfdc18 |
C |
A |
11: 83,600,695 (GRCm39) |
A32D |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,826,019 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
C |
A |
17: 33,019,897 (GRCm39) |
E7* |
probably null |
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 |
|
|
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 |
|
|
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'- TCTCCCCAGGAAACCATGTC -3'
(R):5'- ACCTCATCTGGGAAGTCTGG -3'
Sequencing Primer
(F):5'- GGAAACCATGTCACCATCGTC -3'
(R):5'- AAGTCTGGTGTAGGAGCATCTAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation