Incidental Mutation 'R1772:Szt2'
ID |
196677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Szt2
|
Ensembl Gene |
ENSMUSG00000033253 |
Gene Name |
SZT2 subunit of KICSTOR complex |
Synonyms |
seaizure threshold 2 |
MMRRC Submission |
039803-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.610)
|
Stock # |
R1772 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118262714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 21
(K21M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019229]
[ENSMUST00000073881]
[ENSMUST00000075406]
[ENSMUST00000084319]
[ENSMUST00000106384]
[ENSMUST00000126089]
[ENSMUST00000144577]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019229
|
SMART Domains |
Protein: ENSMUSP00000019229 Gene: ENSMUSG00000006392
Domain | Start | End | E-Value | Type |
Pfam:Med8
|
1 |
265 |
1.2e-91 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073881
|
SMART Domains |
Protein: ENSMUSP00000073544 Gene: ENSMUSG00000006392
Domain | Start | End | E-Value | Type |
Pfam:Med8
|
2 |
129 |
1.4e-39 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075406
AA Change: K21M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074862 Gene: ENSMUSG00000033253 AA Change: K21M
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: ENSMUST00000084319
|
SMART Domains |
Protein: ENSMUSP00000081346 Gene: ENSMUSG00000006392
Domain | Start | End | E-Value | Type |
Pfam:Med8
|
2 |
179 |
1.1e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106384
|
SMART Domains |
Protein: ENSMUSP00000101992 Gene: ENSMUSG00000006392
Domain | Start | End | E-Value | Type |
Pfam:Med8
|
1 |
234 |
3.3e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152633
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144577
|
SMART Domains |
Protein: ENSMUSP00000120158 Gene: ENSMUSG00000006392
Domain | Start | End | E-Value | Type |
Pfam:Med8
|
2 |
75 |
3.7e-23 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.5%
|
Validation Efficiency |
97% (107/110) |
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: 106 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
G |
T |
10: 10,258,465 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,693,383 (GRCm39) |
K179E |
probably damaging |
Het |
Angptl7 |
G |
A |
4: 148,581,883 (GRCm39) |
R168C |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,706,563 (GRCm39) |
I208F |
possibly damaging |
Het |
Bco1 |
A |
G |
8: 117,857,347 (GRCm39) |
Y438C |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,013,581 (GRCm39) |
S1937P |
probably damaging |
Het |
Btrc |
A |
C |
19: 45,501,100 (GRCm39) |
K218Q |
probably damaging |
Het |
Cct8l1 |
G |
A |
5: 25,722,697 (GRCm39) |
V471M |
probably damaging |
Het |
Cd180 |
C |
T |
13: 102,842,750 (GRCm39) |
L599F |
probably benign |
Het |
Cd300e |
T |
C |
11: 114,945,344 (GRCm39) |
N150S |
probably benign |
Het |
Clcn1 |
C |
A |
6: 42,271,079 (GRCm39) |
T281K |
probably damaging |
Het |
Cnnm3 |
T |
C |
1: 36,558,038 (GRCm39) |
S417P |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,804,776 (GRCm39) |
S1862R |
probably benign |
Het |
Cspg5 |
A |
T |
9: 110,091,206 (GRCm39) |
N432Y |
probably damaging |
Het |
Cyp2r1 |
T |
A |
7: 114,152,451 (GRCm39) |
I169F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,059,982 (GRCm39) |
S618T |
probably damaging |
Het |
Diaph3 |
G |
A |
14: 87,202,985 (GRCm39) |
P635L |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,484,485 (GRCm39) |
I38V |
possibly damaging |
Het |
Dlk1 |
T |
G |
12: 109,425,685 (GRCm39) |
V186G |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,330,508 (GRCm39) |
|
probably benign |
Het |
Dnajc17 |
G |
A |
2: 119,014,164 (GRCm39) |
R132* |
probably null |
Het |
Dock9 |
G |
T |
14: 121,847,210 (GRCm39) |
N1042K |
probably benign |
Het |
Dok7 |
A |
T |
5: 35,243,994 (GRCm39) |
Q511L |
probably damaging |
Het |
Espnl |
G |
A |
1: 91,272,325 (GRCm39) |
E562K |
possibly damaging |
Het |
Evi5 |
G |
A |
5: 107,943,707 (GRCm39) |
T562I |
probably benign |
Het |
Exd2 |
T |
A |
12: 80,536,253 (GRCm39) |
D294E |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,245,148 (GRCm39) |
D246E |
possibly damaging |
Het |
Fbxw16 |
A |
T |
9: 109,268,650 (GRCm39) |
W247R |
possibly damaging |
Het |
Fcer1a |
A |
G |
1: 173,053,004 (GRCm39) |
I64T |
probably benign |
Het |
Fcgbp |
C |
A |
7: 27,804,600 (GRCm39) |
Q1903K |
possibly damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,700 (GRCm39) |
S467G |
unknown |
Het |
Fndc7 |
T |
A |
3: 108,777,850 (GRCm39) |
T369S |
probably damaging |
Het |
Fnta |
T |
C |
8: 26,490,994 (GRCm39) |
|
probably benign |
Het |
Gak |
A |
T |
5: 108,754,758 (GRCm39) |
H289Q |
probably damaging |
Het |
Gas2l3 |
A |
G |
10: 89,252,876 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
T |
C |
5: 105,163,987 (GRCm39) |
N437S |
probably benign |
Het |
Gk5 |
G |
A |
9: 96,032,850 (GRCm39) |
|
probably null |
Het |
Hid1 |
A |
T |
11: 115,239,299 (GRCm39) |
V788E |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,439,319 (GRCm39) |
T5505A |
probably damaging |
Het |
Igf1r |
T |
A |
7: 67,844,822 (GRCm39) |
M865K |
probably benign |
Het |
Katnal2 |
G |
A |
18: 77,090,233 (GRCm39) |
T258I |
probably damaging |
Het |
Kdm3b |
A |
T |
18: 34,936,557 (GRCm39) |
I280L |
probably benign |
Het |
Kif24 |
A |
G |
4: 41,409,787 (GRCm39) |
V382A |
probably damaging |
Het |
Kif2a |
A |
T |
13: 107,114,640 (GRCm39) |
|
probably benign |
Het |
Klhl10 |
A |
G |
11: 100,333,022 (GRCm39) |
I56V |
probably benign |
Het |
Klk6 |
C |
T |
7: 43,478,695 (GRCm39) |
Q201* |
probably null |
Het |
Klra3 |
A |
T |
6: 130,300,671 (GRCm39) |
S233T |
probably benign |
Het |
Krt9 |
A |
T |
11: 100,082,131 (GRCm39) |
M223K |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,936,220 (GRCm39) |
E632K |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,328,524 (GRCm39) |
Y163H |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,764,821 (GRCm39) |
I11T |
probably benign |
Het |
Lix1l |
T |
A |
3: 96,531,207 (GRCm39) |
H333Q |
possibly damaging |
Het |
Mal2 |
T |
A |
15: 54,451,783 (GRCm39) |
M68K |
probably damaging |
Het |
Map2k2 |
T |
C |
10: 80,956,934 (GRCm39) |
I104T |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,428,931 (GRCm39) |
V765A |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,040 (GRCm39) |
K216N |
probably damaging |
Het |
Mup5 |
C |
T |
4: 61,750,578 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
G |
14: 103,419,855 (GRCm39) |
Y2494H |
probably damaging |
Het |
Myh3 |
G |
A |
11: 66,990,220 (GRCm39) |
D1622N |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,177,331 (GRCm39) |
I609T |
possibly damaging |
Het |
Ndst1 |
G |
A |
18: 60,835,909 (GRCm39) |
T458I |
probably damaging |
Het |
Neb |
A |
T |
2: 52,125,689 (GRCm39) |
Y3622N |
probably damaging |
Het |
Ntm |
A |
G |
9: 29,090,396 (GRCm39) |
Y108H |
probably benign |
Het |
Or13c3 |
T |
G |
4: 52,855,730 (GRCm39) |
K261T |
probably benign |
Het |
Or1a1b |
T |
C |
11: 74,097,398 (GRCm39) |
I215V |
probably benign |
Het |
Or52e19 |
T |
C |
7: 102,959,449 (GRCm39) |
Y174H |
possibly damaging |
Het |
Pappa2 |
T |
A |
1: 158,641,938 (GRCm39) |
I1373F |
possibly damaging |
Het |
Pear1 |
A |
G |
3: 87,661,799 (GRCm39) |
|
probably benign |
Het |
Phc3 |
C |
T |
3: 31,015,969 (GRCm39) |
A81T |
probably damaging |
Het |
Pmepa1 |
A |
G |
2: 173,076,153 (GRCm39) |
S105P |
probably damaging |
Het |
Ppp6r1 |
T |
C |
7: 4,645,030 (GRCm39) |
I248V |
probably benign |
Het |
Prdm4 |
G |
A |
10: 85,729,256 (GRCm39) |
T717I |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,168,566 (GRCm39) |
T669A |
probably benign |
Het |
Ptpn5 |
T |
A |
7: 46,740,516 (GRCm39) |
I96F |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,407,741 (GRCm39) |
L922P |
probably damaging |
Het |
Reck |
A |
T |
4: 43,890,982 (GRCm39) |
H40L |
probably benign |
Het |
Rreb1 |
T |
A |
13: 38,114,899 (GRCm39) |
C753S |
probably benign |
Het |
Sacs |
T |
C |
14: 61,448,346 (GRCm39) |
L3464P |
probably damaging |
Het |
Samsn1 |
A |
T |
16: 75,667,663 (GRCm39) |
D304E |
probably benign |
Het |
Scgb2b3 |
T |
C |
7: 31,059,621 (GRCm39) |
N51S |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,088,515 (GRCm39) |
S341P |
probably damaging |
Het |
Siglece |
T |
C |
7: 43,308,717 (GRCm39) |
D212G |
probably damaging |
Het |
Sirpa |
A |
G |
2: 129,458,376 (GRCm39) |
T331A |
probably damaging |
Het |
Spata21 |
T |
C |
4: 140,838,607 (GRCm39) |
S553P |
possibly damaging |
Het |
Speer4b |
T |
A |
5: 27,705,236 (GRCm39) |
|
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,247,376 (GRCm39) |
D552G |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,790,098 (GRCm39) |
I556T |
probably benign |
Het |
Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
Stxbp6 |
T |
A |
12: 44,949,653 (GRCm39) |
D92V |
probably damaging |
Het |
Styx |
A |
G |
14: 45,594,215 (GRCm39) |
K46E |
probably damaging |
Het |
Supt20 |
T |
A |
3: 54,617,841 (GRCm39) |
V314E |
probably damaging |
Het |
Syne2 |
T |
A |
12: 75,985,503 (GRCm39) |
D1650E |
probably benign |
Het |
Tbx4 |
A |
T |
11: 85,802,033 (GRCm39) |
H222L |
probably damaging |
Het |
Tcstv1b |
T |
A |
13: 120,634,725 (GRCm39) |
D2E |
probably benign |
Het |
Tmx3 |
A |
T |
18: 90,551,121 (GRCm39) |
I254L |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpv2 |
A |
T |
11: 62,485,052 (GRCm39) |
|
probably benign |
Het |
Ubap2 |
A |
G |
4: 41,202,380 (GRCm39) |
S683P |
probably benign |
Het |
Ube2d3 |
C |
T |
3: 135,170,972 (GRCm39) |
R139W |
probably benign |
Het |
Ubox5 |
G |
T |
2: 130,433,794 (GRCm39) |
Q518K |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,702,857 (GRCm39) |
N588S |
probably damaging |
Het |
Vars2 |
G |
A |
17: 35,970,976 (GRCm39) |
T618M |
probably damaging |
Het |
Wfdc17 |
A |
T |
11: 83,595,730 (GRCm39) |
N65Y |
probably damaging |
Het |
Zbtb38 |
G |
A |
9: 96,570,094 (GRCm39) |
P330L |
probably damaging |
Het |
Zfp385a |
C |
T |
15: 103,224,308 (GRCm39) |
|
probably null |
Het |
Zfp637 |
T |
A |
6: 117,822,373 (GRCm39) |
L167H |
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 |
|
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 |
|
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'- TATAAGAGAGGTCCTACTGGGCCAGG -3'
(R):5'- GAAACGTGCTGCAAGATTGTAAGTTCC -3'
Sequencing Primer
(F):5'- GGCCAGGCCCTCACTTC -3'
(R):5'- agttcagttcccagcaacc -3'
|
Posted On |
2014-05-23 |