Incidental Mutation 'R7448:Szt2'
| ID |
577447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
045523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R7448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 118220668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 3385
(S3385A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(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: S3385A
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: S3385A
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (117/117) |
| 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: 119 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,360,186 (GRCm39) |
S54P |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,746,605 (GRCm39) |
K1242E |
|
Het |
| Alpi |
T |
A |
1: 87,029,257 (GRCm39) |
M1L |
possibly damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,329,982 (GRCm39) |
A283T |
probably damaging |
Het |
| Atp8b5 |
T |
G |
4: 43,366,021 (GRCm39) |
M764R |
probably benign |
Het |
| B4galnt2 |
T |
A |
11: 95,760,193 (GRCm39) |
H278L |
probably damaging |
Het |
| Bcl9l |
G |
T |
9: 44,420,634 (GRCm39) |
A1347S |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,533,427 (GRCm39) |
E671G |
probably damaging |
Het |
| Bmp3 |
A |
T |
5: 99,020,077 (GRCm39) |
I167F |
probably damaging |
Het |
| Bpifb5 |
T |
A |
2: 154,072,105 (GRCm39) |
C271S |
possibly damaging |
Het |
| Camsap2 |
T |
A |
1: 136,198,644 (GRCm39) |
H793L |
|
Het |
| Casp8ap2 |
T |
A |
4: 32,643,974 (GRCm39) |
S1016T |
possibly damaging |
Het |
| Castor1 |
A |
G |
11: 4,171,897 (GRCm39) |
S325G |
not run |
Het |
| Ccdc134 |
T |
A |
15: 82,025,149 (GRCm39) |
I216N |
possibly damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,246,245 (GRCm39) |
R559S |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,442,895 (GRCm39) |
T187A |
probably benign |
Het |
| Ciao1 |
C |
T |
2: 127,087,678 (GRCm39) |
R219H |
probably damaging |
Het |
| Clmn |
T |
C |
12: 104,751,687 (GRCm39) |
D256G |
possibly damaging |
Het |
| Cobl |
A |
C |
11: 12,206,225 (GRCm39) |
M550R |
possibly damaging |
Het |
| Cracr2b |
A |
T |
7: 141,044,118 (GRCm39) |
T117S |
probably benign |
Het |
| Cx3cr1 |
G |
A |
9: 119,881,282 (GRCm39) |
A40V |
probably benign |
Het |
| Cxcl14 |
A |
G |
13: 56,440,344 (GRCm39) |
C72R |
probably damaging |
Het |
| Dab2 |
T |
A |
15: 6,451,747 (GRCm39) |
I121N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,898,990 (GRCm39) |
Y820C |
probably damaging |
Het |
| Dele1 |
A |
G |
18: 38,390,319 (GRCm39) |
N256D |
probably damaging |
Het |
| Ech1 |
T |
A |
7: 28,525,623 (GRCm39) |
C91S |
probably damaging |
Het |
| Exosc5 |
T |
G |
7: 25,358,734 (GRCm39) |
V25G |
probably benign |
Het |
| Fbp1 |
A |
C |
13: 63,020,564 (GRCm39) |
D122E |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,014,471 (GRCm39) |
Y101H |
unknown |
Het |
| Fcsk |
C |
T |
8: 111,616,963 (GRCm39) |
G396S |
possibly damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,871 (GRCm39) |
S778L |
probably benign |
Het |
| Fmnl1 |
T |
A |
11: 103,077,453 (GRCm39) |
V271E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,417,866 (GRCm39) |
S545T |
probably benign |
Het |
| Galnt13 |
G |
A |
2: 54,406,576 (GRCm39) |
V9M |
possibly damaging |
Het |
| Gm7995 |
A |
T |
14: 42,132,302 (GRCm39) |
I45F |
|
Het |
| Gpr137 |
C |
T |
19: 6,917,726 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Gpr22 |
T |
G |
12: 31,759,514 (GRCm39) |
I203L |
probably benign |
Het |
| H2-Q10 |
T |
C |
17: 35,784,457 (GRCm39) |
Y324H |
not run |
Het |
| Hcn4 |
G |
A |
9: 58,751,582 (GRCm39) |
E403K |
unknown |
Het |
| Hddc2 |
T |
A |
10: 31,189,412 (GRCm39) |
M1K |
probably null |
Het |
| Hps3 |
A |
G |
3: 20,089,329 (GRCm39) |
F34S |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,381,422 (GRCm39) |
Y319* |
probably null |
Het |
| Igdcc4 |
G |
T |
9: 65,031,276 (GRCm39) |
V405L |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,231,006 (GRCm39) |
V1215L |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,742,339 (GRCm39) |
S812P |
probably damaging |
Het |
| Lgi1 |
T |
A |
19: 38,289,713 (GRCm39) |
C260S |
probably damaging |
Het |
| Lhfpl6 |
A |
G |
3: 53,168,020 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,699,439 (GRCm39) |
D282G |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,079,567 (GRCm39) |
T230A |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,297,784 (GRCm39) |
W86R |
probably benign |
Het |
| Maco1 |
A |
T |
4: 134,555,590 (GRCm39) |
N294K |
possibly damaging |
Het |
| Magi2 |
G |
A |
5: 20,563,954 (GRCm39) |
G199D |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,077,858 (GRCm39) |
|
probably null |
Het |
| Morc1 |
A |
G |
16: 48,251,708 (GRCm39) |
D2G |
probably damaging |
Het |
| Mpp7 |
A |
T |
18: 7,351,079 (GRCm39) |
F539L |
probably damaging |
Het |
| Muc13 |
A |
T |
16: 33,634,951 (GRCm39) |
I502F |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,255,286 (GRCm39) |
|
probably null |
Het |
| Nat10 |
C |
G |
2: 103,578,390 (GRCm39) |
L238F |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,354,885 (GRCm39) |
T679I |
probably damaging |
Het |
| Npy6r |
T |
A |
18: 44,409,260 (GRCm39) |
I227N |
probably damaging |
Het |
| Nudt18 |
A |
T |
14: 70,815,389 (GRCm39) |
M1L |
unknown |
Het |
| Or13d1 |
T |
A |
4: 52,971,207 (GRCm39) |
N195K |
probably damaging |
Het |
| Or14a257 |
G |
A |
7: 86,138,417 (GRCm39) |
T114I |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,637 (GRCm39) |
I213L |
probably benign |
Het |
| Or8d1 |
C |
A |
9: 38,766,412 (GRCm39) |
T18K |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,011,678 (GRCm39) |
Y259C |
probably damaging |
Het |
| Pcdha3 |
T |
A |
18: 37,079,266 (GRCm39) |
F3I |
probably benign |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,917 (GRCm39) |
Y457N |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,719,631 (GRCm39) |
Q1256L |
unknown |
Het |
| Piezo2 |
C |
T |
18: 63,157,543 (GRCm39) |
R2389H |
probably damaging |
Het |
| Pml |
G |
T |
9: 58,154,496 (GRCm39) |
Q126K |
probably benign |
Het |
| Ppef2 |
A |
G |
5: 92,376,563 (GRCm39) |
Y655H |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,147,936 (GRCm39) |
V926A |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,945,648 (GRCm39) |
D406G |
possibly damaging |
Het |
| Ptprf |
T |
C |
4: 118,092,864 (GRCm39) |
D517G |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,142,461 (GRCm38) |
E371K |
probably benign |
Het |
| Pttg1ip2 |
T |
C |
5: 5,505,952 (GRCm39) |
I110V |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,122,178 (GRCm39) |
D404V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,315,727 (GRCm39) |
F541I |
probably damaging |
Het |
| Rgsl1 |
C |
A |
1: 153,719,847 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
T |
14: 70,033,397 (GRCm39) |
W524* |
probably null |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rims1 |
A |
G |
1: 22,474,699 (GRCm39) |
S211P |
|
Het |
| Ripor2 |
A |
T |
13: 24,854,054 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,372,117 (GRCm39) |
I4903V |
|
Het |
| Robo3 |
T |
A |
9: 37,336,111 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rpl27rt |
A |
G |
18: 34,870,580 (GRCm39) |
K38R |
probably damaging |
Het |
| Seh1l |
C |
T |
18: 67,916,988 (GRCm39) |
H56Y |
probably damaging |
Het |
| Sema3b |
T |
A |
9: 107,480,162 (GRCm39) |
D192V |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,106,763 (GRCm39) |
C222* |
probably null |
Het |
| Skor1 |
A |
G |
9: 63,053,385 (GRCm39) |
F195L |
probably damaging |
Het |
| Slc44a2 |
A |
C |
9: 21,259,642 (GRCm39) |
K596N |
possibly damaging |
Het |
| Smgc |
A |
G |
15: 91,729,696 (GRCm39) |
K217E |
probably benign |
Het |
| Socs7 |
C |
A |
11: 97,267,917 (GRCm39) |
H349Q |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,540 (GRCm39) |
T161A |
|
Het |
| Spg11 |
T |
C |
2: 121,924,026 (GRCm39) |
|
probably null |
Het |
| Ssb |
A |
G |
2: 69,693,624 (GRCm39) |
T11A |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,232,589 (GRCm39) |
S837G |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,139,391 (GRCm39) |
V129A |
possibly damaging |
Het |
| Thsd1 |
T |
C |
8: 22,733,349 (GRCm39) |
I132T |
possibly damaging |
Het |
| Tm6sf2 |
T |
A |
8: 70,530,589 (GRCm39) |
V223E |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,036,267 (GRCm39) |
M343K |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,195,417 (GRCm39) |
P1147Q |
probably benign |
Het |
| Trip4 |
G |
A |
9: 65,773,757 (GRCm39) |
T275M |
probably damaging |
Het |
| Tsen34 |
T |
C |
7: 3,698,834 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,680,422 (GRCm39) |
E1086G |
unknown |
Het |
| Ubr4 |
A |
T |
4: 139,189,778 (GRCm39) |
M853L |
unknown |
Het |
| Ubxn11 |
A |
T |
4: 133,852,466 (GRCm39) |
R352W |
probably damaging |
Het |
| Vmn1r35 |
G |
A |
6: 66,656,219 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
C |
T |
17: 20,595,994 (GRCm39) |
T849I |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,546,248 (GRCm39) |
L707I |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,766,533 (GRCm39) |
T574I |
probably benign |
Het |
| Zfp143 |
A |
G |
7: 109,669,705 (GRCm39) |
M45V |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,902,601 (GRCm39) |
N843K |
possibly damaging |
Het |
| Zfp87 |
A |
T |
13: 67,665,163 (GRCm39) |
M433K |
probably benign |
Het |
| Zfp873 |
C |
A |
10: 81,896,461 (GRCm39) |
H397Q |
probably damaging |
Het |
| Zscan21 |
A |
T |
5: 138,116,110 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- GGTTCCTAAGTGCCAGTCTG -3'
(R):5'- GTTTCTGGACTCACACCTGG -3'
Sequencing Primer
(F):5'- CGGGCAAGCTTATAGATCCATGATTC -3'
(R):5'- TTTCTGGACTCACACCTGGGAAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation