Incidental Mutation 'R7289:Szt2'
| ID |
566218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
SZT2 subunit of KICSTOR complex |
| Synonyms |
seaizure threshold 2 |
| MMRRC Submission |
045396-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R7289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118219940-118266470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118233075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 2297
(T2297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000075406
AA Change: T2297I
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: T2297I
| 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: ENSMUST00000183402
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,818,550 (GRCm39) |
D112N |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,845,778 (GRCm39) |
I1580K |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,059 (GRCm39) |
D234G |
probably damaging |
Het |
| Agap1 |
T |
A |
1: 89,383,153 (GRCm39) |
M1K |
probably null |
Het |
| Agrn |
A |
T |
4: 156,263,389 (GRCm39) |
L345H |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,725,754 (GRCm39) |
M209T |
possibly damaging |
Het |
| Angel2 |
G |
A |
1: 190,673,371 (GRCm39) |
R338H |
possibly damaging |
Het |
| Ankrd27 |
C |
T |
7: 35,330,674 (GRCm39) |
A866V |
probably damaging |
Het |
| Apc |
G |
A |
18: 34,448,324 (GRCm39) |
R1740Q |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,233 (GRCm39) |
S739C |
possibly damaging |
Het |
| Arhgap32 |
G |
C |
9: 32,168,234 (GRCm39) |
S739T |
probably benign |
Het |
| Arhgef2 |
C |
T |
3: 88,543,192 (GRCm39) |
S418L |
probably benign |
Het |
| Arhgef25 |
T |
C |
10: 127,019,641 (GRCm39) |
T472A |
possibly damaging |
Het |
| Atrnl1 |
C |
T |
19: 57,638,846 (GRCm39) |
S328F |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,171,000 (GRCm39) |
A1514V |
probably benign |
Het |
| Calcoco2 |
C |
T |
11: 95,990,823 (GRCm39) |
E305K |
unknown |
Het |
| Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
| Cdc42bpa |
A |
T |
1: 179,889,362 (GRCm39) |
K203* |
probably null |
Het |
| Cmc1 |
A |
T |
9: 117,904,250 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,964,540 (GRCm39) |
E656G |
possibly damaging |
Het |
| Dcun1d3 |
T |
C |
7: 119,458,864 (GRCm39) |
K57R |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,492 (GRCm39) |
E559G |
probably damaging |
Het |
| Dennd6a |
G |
A |
14: 26,333,193 (GRCm39) |
R367Q |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,083,702 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,301,424 (GRCm39) |
D2160G |
unknown |
Het |
| Efcab3 |
T |
C |
11: 104,929,184 (GRCm39) |
M4838T |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,718,520 (GRCm39) |
|
probably null |
Het |
| Esrrb |
T |
A |
12: 86,517,331 (GRCm39) |
|
probably null |
Het |
| Fabp1 |
C |
A |
6: 71,180,111 (GRCm39) |
T94N |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,045,482 (GRCm39) |
C785S |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,710 (GRCm39) |
I193V |
probably damaging |
Het |
| Foxc1 |
A |
G |
13: 31,991,243 (GRCm39) |
Y18C |
probably damaging |
Het |
| Fshr |
T |
C |
17: 89,293,272 (GRCm39) |
T469A |
probably benign |
Het |
| Gm14399 |
T |
A |
2: 174,972,204 (GRCm39) |
H517L |
unknown |
Het |
| Gm39115 |
G |
T |
7: 141,689,297 (GRCm39) |
Q159K |
unknown |
Het |
| Gm7347 |
T |
A |
5: 26,262,306 (GRCm39) |
I72F |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,559,466 (GRCm39) |
V2395A |
possibly damaging |
Het |
| Ighv5-17 |
T |
G |
12: 113,822,858 (GRCm39) |
T88P |
probably damaging |
Het |
| Insm2 |
T |
A |
12: 55,647,329 (GRCm39) |
Y358N |
probably damaging |
Het |
| Kazn |
A |
T |
4: 141,844,486 (GRCm39) |
L409Q |
|
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Kcnv2 |
A |
T |
19: 27,311,084 (GRCm39) |
T484S |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,927,557 (GRCm39) |
Y140H |
probably benign |
Het |
| Kifbp |
A |
C |
10: 62,401,895 (GRCm39) |
C261W |
probably damaging |
Het |
| Krt25 |
C |
T |
11: 99,212,098 (GRCm39) |
A180T |
probably benign |
Het |
| Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
| Nr3c1 |
T |
C |
18: 39,547,654 (GRCm39) |
T755A |
probably benign |
Het |
| Nr3c1 |
A |
T |
18: 39,555,786 (GRCm39) |
I517N |
probably benign |
Het |
| Nxpe2 |
A |
G |
9: 48,234,339 (GRCm39) |
|
probably null |
Het |
| Oaz1 |
C |
A |
10: 80,662,673 (GRCm39) |
T27K |
possibly damaging |
Het |
| Or4p7 |
A |
T |
2: 88,222,050 (GRCm39) |
H153L |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,634 (GRCm39) |
I301T |
probably damaging |
Het |
| Or5t5 |
G |
T |
2: 86,617,034 (GRCm39) |
C320F |
probably benign |
Het |
| Or6z3 |
T |
A |
7: 6,463,777 (GRCm39) |
W90R |
probably benign |
Het |
| Or8k21 |
A |
G |
2: 86,145,369 (GRCm39) |
M87T |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,237,943 (GRCm39) |
V309A |
probably damaging |
Het |
| Pafah2 |
A |
T |
4: 134,147,308 (GRCm39) |
K319M |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,259,309 (GRCm39) |
V236E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,322,966 (GRCm39) |
T956A |
probably damaging |
Het |
| Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
| Pcsk2 |
A |
T |
2: 143,532,343 (GRCm39) |
I164F |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,154,289 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,301 (GRCm39) |
I212F |
probably benign |
Het |
| Pnkp |
T |
A |
7: 44,508,114 (GRCm39) |
W146R |
probably damaging |
Het |
| Prkcb |
A |
T |
7: 122,143,910 (GRCm39) |
I325F |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,670,450 (GRCm39) |
D239N |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,164,070 (GRCm39) |
T626A |
probably damaging |
Het |
| Pttg1 |
T |
C |
11: 43,311,916 (GRCm39) |
N180D |
probably benign |
Het |
| Raly |
G |
A |
2: 154,703,774 (GRCm39) |
R115Q |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,301,114 (GRCm39) |
M474L |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,605,960 (GRCm39) |
I810N |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,337,304 (GRCm39) |
L55* |
probably null |
Het |
| Sema6b |
A |
T |
17: 56,432,573 (GRCm39) |
D543E |
possibly damaging |
Het |
| Serpina11 |
C |
T |
12: 103,952,761 (GRCm39) |
G5E |
unknown |
Het |
| Sesn3 |
A |
T |
9: 14,187,848 (GRCm39) |
M1L |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,865,149 (GRCm39) |
I632N |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,394,192 (GRCm39) |
I49N |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,524 (GRCm39) |
I86F |
possibly damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,333,786 (GRCm39) |
W30R |
probably benign |
Het |
| Spata31g1 |
A |
T |
4: 42,972,379 (GRCm39) |
T571S |
probably benign |
Het |
| Spata31g1 |
A |
T |
4: 42,973,252 (GRCm39) |
I862F |
possibly damaging |
Het |
| Stk31 |
T |
G |
6: 49,415,393 (GRCm39) |
V576G |
probably benign |
Het |
| Tmem208 |
T |
C |
8: 106,061,418 (GRCm39) |
F148S |
possibly damaging |
Het |
| Tprg1l |
A |
G |
4: 154,245,031 (GRCm39) |
L19P |
possibly damaging |
Het |
| Tubg2 |
C |
A |
11: 101,050,897 (GRCm39) |
N207K |
probably damaging |
Het |
| Ube2n |
G |
T |
10: 95,377,612 (GRCm39) |
K130N |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,164,355 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,840,852 (GRCm39) |
L1564* |
probably null |
Het |
| Xkr6 |
A |
T |
14: 64,035,748 (GRCm39) |
D283V |
unknown |
Het |
| Zfp654 |
T |
C |
16: 64,605,523 (GRCm39) |
H352R |
probably benign |
Het |
| Zfp819 |
T |
A |
7: 43,266,506 (GRCm39) |
C330S |
probably damaging |
Het |
| Zfp970 |
G |
T |
2: 177,167,086 (GRCm39) |
C220F |
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 |
|
|
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 |
|
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'- ACAGCACTGAGGGAACACTC -3'
(R):5'- CCCCGACTTGGACATCTACTTG -3'
Sequencing Primer
(F):5'- TGAGGGAACACTCCAGCC -3'
(R):5'- CTACTTGTATAATAAACCTGGTGGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation