Incidental Mutation 'R2044:Szt2'
| ID |
221610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
040051-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R2044 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 118233645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 2225
(L2225*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075406
AA Change: L2225*
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: L2225*
| 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 |
noncoding transcript
Transcript: ENSMUST00000138386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183402
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
98% (92/94) |
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
G |
A |
17: 37,288,986 (GRCm39) |
|
probably benign |
Het |
| Abhd15 |
A |
G |
11: 77,409,164 (GRCm39) |
T293A |
probably benign |
Het |
| Aldh1l1 |
C |
T |
6: 90,539,647 (GRCm39) |
P192L |
probably benign |
Het |
| Aldoart1 |
T |
G |
4: 72,770,779 (GRCm39) |
I10L |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,778,166 (GRCm39) |
G1653D |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,330,664 (GRCm39) |
|
probably null |
Het |
| Astn1 |
A |
G |
1: 158,428,072 (GRCm39) |
T748A |
possibly damaging |
Het |
| Bmp7 |
C |
A |
2: 172,781,708 (GRCm39) |
R52L |
possibly damaging |
Het |
| Ccdc33 |
G |
A |
9: 57,938,395 (GRCm39) |
P859S |
possibly damaging |
Het |
| Ccny |
A |
G |
18: 9,449,644 (GRCm39) |
S10P |
probably damaging |
Het |
| Cdc6 |
C |
A |
11: 98,801,287 (GRCm39) |
F179L |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,130,998 (GRCm39) |
V491E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,432,509 (GRCm39) |
S138R |
possibly damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,614 (GRCm39) |
H299R |
probably benign |
Het |
| Ciart |
A |
T |
3: 95,786,013 (GRCm39) |
M354K |
probably benign |
Het |
| Clasrp |
G |
T |
7: 19,320,640 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,674,040 (GRCm39) |
G1132E |
unknown |
Het |
| Crebbp |
G |
A |
16: 3,902,687 (GRCm39) |
T2184I |
probably benign |
Het |
| Cyp2r1 |
A |
C |
7: 114,149,640 (GRCm39) |
M458R |
probably damaging |
Het |
| Cyp7a1 |
C |
A |
4: 6,275,492 (GRCm39) |
R27M |
probably null |
Het |
| Ddhd2 |
A |
G |
8: 26,242,192 (GRCm39) |
F116L |
probably damaging |
Het |
| Dgkd |
G |
A |
1: 87,855,413 (GRCm39) |
R685K |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,415,066 (GRCm39) |
S223P |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,283,979 (GRCm39) |
R353S |
possibly damaging |
Het |
| F11 |
C |
A |
8: 45,705,155 (GRCm39) |
V129F |
probably benign |
Het |
| F830045P16Rik |
A |
T |
2: 129,301,317 (GRCm39) |
S454T |
possibly damaging |
Het |
| Fam124a |
T |
C |
14: 62,824,656 (GRCm39) |
I50T |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,741,982 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,203,912 (GRCm39) |
T405A |
probably benign |
Het |
| Fbh1 |
C |
A |
2: 11,767,781 (GRCm39) |
V356L |
possibly damaging |
Het |
| Flywch1 |
G |
A |
17: 23,981,287 (GRCm39) |
Q132* |
probably null |
Het |
| Foxo6 |
T |
C |
4: 120,144,166 (GRCm39) |
D95G |
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,439,921 (GRCm39) |
F174S |
probably damaging |
Het |
| Gm7104 |
G |
A |
12: 88,252,551 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr155 |
A |
G |
2: 73,203,977 (GRCm39) |
L279P |
probably damaging |
Het |
| H2-T23 |
A |
G |
17: 36,343,083 (GRCm39) |
L98P |
probably damaging |
Het |
| H4c16 |
G |
C |
6: 136,781,101 (GRCm39) |
R93G |
possibly damaging |
Het |
| Heatr5a |
A |
G |
12: 52,002,186 (GRCm39) |
V250A |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,135,156 (GRCm39) |
I50F |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,909,771 (GRCm39) |
S179R |
probably damaging |
Het |
| Isg15 |
A |
T |
4: 156,284,249 (GRCm39) |
I93N |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
G |
A |
3: 96,565,006 (GRCm39) |
V985I |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,302,892 (GRCm39) |
I144T |
probably benign |
Het |
| Klk1 |
A |
C |
7: 43,878,458 (GRCm39) |
K104T |
possibly damaging |
Het |
| Lemd3 |
C |
A |
10: 120,769,347 (GRCm39) |
R654L |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,292,125 (GRCm39) |
M327L |
probably benign |
Het |
| Lonrf2 |
T |
C |
1: 38,846,131 (GRCm39) |
E347G |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,583,427 (GRCm39) |
Y409C |
probably damaging |
Het |
| Mecom |
A |
T |
3: 30,034,741 (GRCm39) |
Y312N |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,252,342 (GRCm39) |
T295A |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,482 (GRCm39) |
C23Y |
possibly damaging |
Het |
| Nadk |
C |
A |
4: 155,669,898 (GRCm39) |
L194I |
probably damaging |
Het |
| Naxd |
A |
G |
8: 11,559,510 (GRCm39) |
I182V |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,358,846 (GRCm39) |
I1176K |
probably damaging |
Het |
| Nol4l |
C |
A |
2: 153,371,441 (GRCm39) |
R81L |
possibly damaging |
Het |
| Odad3 |
T |
G |
9: 21,903,154 (GRCm39) |
T419P |
possibly damaging |
Het |
| Or4k47 |
T |
A |
2: 111,452,159 (GRCm39) |
R87W |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,674 (GRCm39) |
M114K |
probably damaging |
Het |
| Or9s15 |
G |
T |
1: 92,524,691 (GRCm39) |
R150L |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,709,389 (GRCm39) |
V642A |
probably benign |
Het |
| Pdzk1 |
G |
A |
3: 96,763,164 (GRCm39) |
|
probably benign |
Het |
| Per3 |
C |
T |
4: 151,118,395 (GRCm39) |
V233I |
probably benign |
Het |
| Pisd |
G |
A |
5: 32,922,140 (GRCm39) |
P267S |
possibly damaging |
Het |
| Prm1 |
T |
A |
16: 10,614,357 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,293,439 (GRCm39) |
V548A |
probably damaging |
Het |
| Ranbp3 |
G |
A |
17: 56,980,367 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
T |
A |
4: 100,960,009 (GRCm39) |
V163D |
probably damaging |
Het |
| Rbm14 |
A |
T |
19: 4,853,905 (GRCm39) |
I159N |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,594,222 (GRCm39) |
V381I |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,108,693 (GRCm39) |
|
probably benign |
Het |
| Rpl28-ps4 |
T |
A |
6: 117,190,856 (GRCm39) |
|
noncoding transcript |
Het |
| Rsph10b |
A |
G |
5: 143,904,068 (GRCm39) |
|
probably null |
Het |
| Rspo4 |
A |
G |
2: 151,715,013 (GRCm39) |
K217E |
unknown |
Het |
| Scgb2b27 |
G |
A |
7: 33,712,710 (GRCm39) |
A44V |
possibly damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,061,435 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,595 (GRCm39) |
N101D |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,439,496 (GRCm39) |
C9* |
probably null |
Het |
| Septin5 |
A |
C |
16: 18,441,762 (GRCm39) |
L331R |
probably benign |
Het |
| Slc16a11 |
C |
A |
11: 70,106,477 (GRCm39) |
Y238* |
probably null |
Het |
| Slc25a12 |
T |
C |
2: 71,142,892 (GRCm39) |
T210A |
probably benign |
Het |
| Slc35f1 |
A |
T |
10: 52,965,443 (GRCm39) |
Y286F |
probably damaging |
Het |
| Thap12 |
T |
C |
7: 98,365,827 (GRCm39) |
L665P |
probably damaging |
Het |
| Tpsb2 |
T |
A |
17: 25,586,698 (GRCm39) |
W237R |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,031,637 (GRCm39) |
D451G |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,049,696 (GRCm39) |
N231K |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,852 (GRCm39) |
T98S |
possibly damaging |
Het |
| Vmn1r87 |
A |
T |
7: 12,865,748 (GRCm39) |
S180T |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,262 (GRCm39) |
V821A |
probably damaging |
Het |
| Zfp689 |
C |
A |
7: 127,043,998 (GRCm39) |
G211C |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,802,865 (GRCm39) |
D479G |
probably benign |
Het |
| Zfp995 |
A |
C |
17: 22,099,575 (GRCm39) |
F220V |
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 |
|
|
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 |
|
|
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'- GCCACAGATGCAAAGATCCTG -3'
(R):5'- GCTGGTTCGGAATTGCAAG -3'
Sequencing Primer
(F):5'- GATCCTGAGGAAAGTCCCAGC -3'
(R):5'- TTCGGAATTGCAAGCTGACC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation