Incidental Mutation 'R5121:Szt2'
| ID |
392995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Szt2
|
| Ensembl Gene |
ENSMUSG00000033253 |
| Gene Name |
seizure threshold 2 |
| Synonyms |
|
| MMRRC Submission |
042709-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.649)
|
| Stock # |
R5121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118362743-118409273 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118385444 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1482
(E1482G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074862
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075406
AA Change: E1482G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: E1482G
| 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: ENSMUST00000136737
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| 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: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
A |
G |
2: 58,281,650 (GRCm38) |
I234T |
probably damaging |
Het |
| Adam24 |
A |
G |
8: 40,679,511 (GRCm38) |
E6G |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,744,164 (GRCm38) |
D151G |
probably benign |
Het |
| Arhgap24 |
T |
C |
5: 102,841,335 (GRCm38) |
L10P |
probably damaging |
Het |
| Arhgap25 |
T |
G |
6: 87,532,864 (GRCm38) |
N8T |
probably benign |
Het |
| Arsi |
T |
G |
18: 60,917,439 (GRCm38) |
F465V |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,448,825 (GRCm38) |
V293A |
probably damaging |
Het |
| Bzw2 |
A |
G |
12: 36,104,351 (GRCm38) |
L340P |
probably damaging |
Het |
| Camkmt |
C |
T |
17: 85,096,581 (GRCm38) |
T77I |
probably benign |
Het |
| Camsap1 |
G |
T |
2: 25,935,550 (GRCm38) |
Q1375K |
probably benign |
Het |
| Catsper2 |
G |
T |
2: 121,397,123 (GRCm38) |
|
probably null |
Het |
| Cd163 |
T |
C |
6: 124,317,989 (GRCm38) |
C671R |
probably damaging |
Het |
| Cdk7 |
T |
C |
13: 100,717,684 (GRCm38) |
|
probably null |
Het |
| Cfi |
C |
T |
3: 129,873,077 (GRCm38) |
P483L |
probably damaging |
Het |
| Chn2 |
C |
T |
6: 54,218,561 (GRCm38) |
L72F |
possibly damaging |
Het |
| Cimip4 |
C |
T |
15: 78,386,173 (GRCm38) |
E132K |
probably benign |
Het |
| Cntn2 |
C |
A |
1: 132,517,060 (GRCm38) |
E363* |
probably null |
Het |
| Crebbp |
T |
C |
16: 4,093,511 (GRCm38) |
E999G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,126,463 (GRCm38) |
N900K |
probably damaging |
Het |
| Cts3 |
A |
C |
13: 61,567,595 (GRCm38) |
I141M |
probably benign |
Het |
| Cwc27 |
A |
T |
13: 104,804,353 (GRCm38) |
V166D |
probably damaging |
Het |
| Defb26 |
T |
C |
2: 152,508,165 (GRCm38) |
E65G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,810,353 (GRCm38) |
T4099A |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,744,606 (GRCm38) |
F1953L |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,340,111 (GRCm38) |
|
probably null |
Het |
| Fbln1 |
A |
G |
15: 85,237,671 (GRCm38) |
E331G |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,572,203 (GRCm38) |
H76Y |
probably benign |
Het |
| Gcat |
T |
C |
15: 79,035,282 (GRCm38) |
V149A |
probably damaging |
Het |
| Glp2r |
A |
T |
11: 67,722,100 (GRCm38) |
|
probably null |
Het |
| Gm572 |
T |
C |
4: 148,666,845 (GRCm38) |
|
probably null |
Het |
| Golgb1 |
T |
C |
16: 36,919,258 (GRCm38) |
V2653A |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,646,144 (GRCm38) |
R155Q |
possibly damaging |
Het |
| Gspt1 |
T |
A |
16: 11,223,301 (GRCm38) |
I533L |
probably damaging |
Het |
| Gypa |
A |
T |
8: 80,496,348 (GRCm38) |
Y27F |
unknown |
Het |
| Hipk4 |
G |
A |
7: 27,529,492 (GRCm38) |
V456I |
probably benign |
Het |
| Homer2 |
A |
T |
7: 81,649,563 (GRCm38) |
D51E |
probably benign |
Het |
| Hspa1b |
A |
T |
17: 34,958,004 (GRCm38) |
V335E |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,912,534 (GRCm38) |
T827A |
probably benign |
Het |
| Igkv1-35 |
T |
C |
6: 70,011,135 (GRCm38) |
N58S |
probably benign |
Het |
| Kat6b |
A |
T |
14: 21,619,258 (GRCm38) |
H297L |
probably damaging |
Het |
| Kirrel3 |
G |
T |
9: 35,013,305 (GRCm38) |
G296W |
probably damaging |
Het |
| Klhl17 |
A |
G |
4: 156,230,625 (GRCm38) |
V525A |
probably benign |
Het |
| Lrrn1 |
G |
T |
6: 107,569,207 (GRCm38) |
R655S |
possibly damaging |
Het |
| Ltk |
T |
C |
2: 119,753,227 (GRCm38) |
N256D |
probably damaging |
Het |
| Mill2 |
G |
A |
7: 18,856,666 (GRCm38) |
G209S |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,581,368 (GRCm38) |
H544L |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,389,596 (GRCm38) |
S209P |
probably damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,676,546 (GRCm38) |
K415* |
probably null |
Het |
| Myb |
T |
A |
10: 21,126,238 (GRCm38) |
M616L |
probably benign |
Het |
| Myo15b |
C |
T |
11: 115,886,054 (GRCm38) |
R867W |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,874,480 (GRCm38) |
|
probably benign |
Het |
| Nip7 |
A |
G |
8: 107,056,957 (GRCm38) |
E8G |
possibly damaging |
Het |
| Optn |
T |
A |
2: 5,046,106 (GRCm38) |
I155F |
probably benign |
Het |
| Or2f1b |
T |
A |
6: 42,762,997 (GRCm38) |
L315* |
probably null |
Het |
| Or4f62 |
A |
T |
2: 112,156,286 (GRCm38) |
M112L |
possibly damaging |
Het |
| Or52e4 |
A |
G |
7: 105,056,482 (GRCm38) |
T79A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,332,589 (GRCm38) |
F281V |
probably damaging |
Het |
| Or6b6 |
T |
C |
7: 106,972,231 (GRCm38) |
I38V |
probably benign |
Het |
| Papolb |
A |
T |
5: 142,528,837 (GRCm38) |
H350Q |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,838,627 (GRCm38) |
M1128L |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,117 (GRCm38) |
N183K |
probably benign |
Het |
| Pde12 |
G |
T |
14: 26,669,422 (GRCm38) |
S44* |
probably null |
Het |
| Peg3 |
T |
C |
7: 6,710,289 (GRCm38) |
K645E |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,573,463 (GRCm38) |
R1375C |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,579,474 (GRCm38) |
E21K |
probably damaging |
Het |
| Plk2 |
C |
T |
13: 110,399,424 (GRCm38) |
P554L |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 (GRCm38) |
S113L |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,464,605 (GRCm38) |
W203R |
probably damaging |
Het |
| Ppcdc |
A |
G |
9: 57,421,163 (GRCm38) |
V65A |
possibly damaging |
Het |
| Ppm1m |
T |
A |
9: 106,195,805 (GRCm38) |
Q353L |
probably benign |
Het |
| Ppp1r13l |
G |
C |
7: 19,370,095 (GRCm38) |
R167P |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,996,653 (GRCm38) |
V497E |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,636,043 (GRCm38) |
H399Q |
probably benign |
Het |
| Psg25 |
T |
A |
7: 18,526,536 (GRCm38) |
I146F |
possibly damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,960,429 (GRCm38) |
Q116L |
probably damaging |
Het |
| Rbbp9 |
A |
G |
2: 144,550,756 (GRCm38) |
V8A |
possibly damaging |
Het |
| Rfk |
T |
C |
19: 17,399,566 (GRCm38) |
F144S |
probably damaging |
Het |
| Rfwd3 |
A |
C |
8: 111,282,753 (GRCm38) |
|
probably null |
Het |
| Rhpn1 |
T |
C |
15: 75,709,260 (GRCm38) |
I117T |
probably damaging |
Het |
| Sars2 |
A |
T |
7: 28,747,908 (GRCm38) |
N244Y |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,902,887 (GRCm38) |
H256L |
probably benign |
Het |
| Sgcz |
G |
A |
8: 37,539,667 (GRCm38) |
T195I |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,379,257 (GRCm38) |
H157Q |
probably benign |
Het |
| Spen |
T |
A |
4: 141,476,099 (GRCm38) |
Q1739L |
probably benign |
Het |
| Susd1 |
G |
T |
4: 59,379,657 (GRCm38) |
S323R |
possibly damaging |
Het |
| Tex15 |
A |
T |
8: 33,571,766 (GRCm38) |
K408I |
probably damaging |
Het |
| Trem1 |
T |
A |
17: 48,232,836 (GRCm38) |
F14L |
probably null |
Het |
| Trim26 |
G |
T |
17: 36,851,066 (GRCm38) |
E126* |
probably null |
Het |
| Trpv3 |
T |
C |
11: 73,277,834 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,916,491 (GRCm38) |
|
probably null |
Het |
| Ubap1 |
C |
T |
4: 41,379,688 (GRCm38) |
L301F |
probably benign |
Het |
| Uchl1 |
T |
C |
5: 66,676,437 (GRCm38) |
M12T |
probably benign |
Het |
| Vill |
C |
T |
9: 119,070,025 (GRCm38) |
T253I |
possibly damaging |
Het |
| Vmn2r107 |
C |
T |
17: 20,355,753 (GRCm38) |
T115I |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,053,553 (GRCm38) |
S21P |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,677,162 (GRCm38) |
K63E |
probably benign |
Het |
| Wnt2 |
T |
C |
6: 18,023,126 (GRCm38) |
K175E |
possibly damaging |
Het |
| Zfp592 |
T |
C |
7: 81,023,561 (GRCm38) |
L91P |
probably damaging |
Het |
| Zfp74 |
T |
C |
7: 29,932,507 (GRCm38) |
|
probably null |
Het |
| Zglp1 |
A |
T |
9: 21,062,661 (GRCm38) |
I243N |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,950,187 (GRCm38) |
E215G |
probably benign |
Het |
|
| Other mutations in Szt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Szt2
|
APN |
4 |
118,384,250 (GRCm38) |
splice site |
probably benign |
|
|
IGL01082:Szt2
|
APN |
4 |
118,397,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01348:Szt2
|
APN |
4 |
118,393,624 (GRCm38) |
splice site |
probably benign |
|
|
IGL01869:Szt2
|
APN |
4 |
118,399,071 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01918:Szt2
|
APN |
4 |
118,384,253 (GRCm38) |
splice site |
probably benign |
|
|
IGL01951:Szt2
|
APN |
4 |
118,376,493 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01971:Szt2
|
APN |
4 |
118,386,955 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02047:Szt2
|
APN |
4 |
118,376,637 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02092:Szt2
|
APN |
4 |
118,363,332 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02120:Szt2
|
APN |
4 |
118,388,564 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02210:Szt2
|
APN |
4 |
118,389,823 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02435:Szt2
|
APN |
4 |
118,390,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02622:Szt2
|
APN |
4 |
118,392,890 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02666:Szt2
|
APN |
4 |
118,374,055 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02712:Szt2
|
APN |
4 |
118,384,833 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02983:Szt2
|
APN |
4 |
118,365,779 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03026:Szt2
|
APN |
4 |
118,391,849 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL03178:Szt2
|
APN |
4 |
118,382,689 (GRCm38) |
missense |
unknown |
|
|
IGL03233:Szt2
|
APN |
4 |
118,372,529 (GRCm38) |
missense |
unknown |
|
|
IGL03377:Szt2
|
APN |
4 |
118,402,397 (GRCm38) |
splice site |
probably benign |
|
|
IGL03387:Szt2
|
APN |
4 |
118,364,725 (GRCm38) |
unclassified |
probably benign |
|
|
PIT4687001:Szt2
|
UTSW |
4 |
118,398,201 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0026:Szt2
|
UTSW |
4 |
118,384,772 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0352:Szt2
|
UTSW |
4 |
118,382,593 (GRCm38) |
missense |
unknown |
|
|
R0396:Szt2
|
UTSW |
4 |
118,376,347 (GRCm38) |
unclassified |
probably benign |
|
|
R0504:Szt2
|
UTSW |
4 |
118,372,952 (GRCm38) |
splice site |
probably null |
|
|
R1033:Szt2
|
UTSW |
4 |
118,387,106 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1222:Szt2
|
UTSW |
4 |
118,405,459 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1418:Szt2
|
UTSW |
4 |
118,387,779 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1462:Szt2
|
UTSW |
4 |
118,373,967 (GRCm38) |
missense |
unknown |
|
|
R1462:Szt2
|
UTSW |
4 |
118,373,967 (GRCm38) |
missense |
unknown |
|
|
R1763:Szt2
|
UTSW |
4 |
118,372,368 (GRCm38) |
missense |
unknown |
|
|
R1772:Szt2
|
UTSW |
4 |
118,405,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1840:Szt2
|
UTSW |
4 |
118,365,657 (GRCm38) |
unclassified |
probably benign |
|
|
R1942:Szt2
|
UTSW |
4 |
118,392,620 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1965:Szt2
|
UTSW |
4 |
118,383,965 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1998:Szt2
|
UTSW |
4 |
118,375,727 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2009:Szt2
|
UTSW |
4 |
118,378,064 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2012:Szt2
|
UTSW |
4 |
118,363,665 (GRCm38) |
unclassified |
probably benign |
|
|
R2044:Szt2
|
UTSW |
4 |
118,376,448 (GRCm38) |
nonsense |
probably null |
|
|
R2066:Szt2
|
UTSW |
4 |
118,373,980 (GRCm38) |
missense |
unknown |
|
|
R2345:Szt2
|
UTSW |
4 |
118,381,397 (GRCm38) |
missense |
unknown |
|
|
R2857:Szt2
|
UTSW |
4 |
118,369,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3156:Szt2
|
UTSW |
4 |
118,402,819 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3236:Szt2
|
UTSW |
4 |
118,383,034 (GRCm38) |
splice site |
probably null |
|
|
R3237:Szt2
|
UTSW |
4 |
118,383,034 (GRCm38) |
splice site |
probably null |
|
|
R3405:Szt2
|
UTSW |
4 |
118,394,020 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3795:Szt2
|
UTSW |
4 |
118,391,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3878:Szt2
|
UTSW |
4 |
118,390,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3906:Szt2
|
UTSW |
4 |
118,378,269 (GRCm38) |
unclassified |
probably benign |
|
|
R4012:Szt2
|
UTSW |
4 |
118,383,900 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4039:Szt2
|
UTSW |
4 |
118,364,952 (GRCm38) |
unclassified |
probably benign |
|
|
R4081:Szt2
|
UTSW |
4 |
118,373,567 (GRCm38) |
splice site |
probably benign |
|
|
R4298:Szt2
|
UTSW |
4 |
118,365,406 (GRCm38) |
unclassified |
probably benign |
|
|
R4299:Szt2
|
UTSW |
4 |
118,365,406 (GRCm38) |
unclassified |
probably benign |
|
|
R4432:Szt2
|
UTSW |
4 |
118,384,231 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4597:Szt2
|
UTSW |
4 |
118,372,681 (GRCm38) |
missense |
unknown |
|
|
R4657:Szt2
|
UTSW |
4 |
118,397,669 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4663:Szt2
|
UTSW |
4 |
118,377,684 (GRCm38) |
unclassified |
probably benign |
|
|
R4670:Szt2
|
UTSW |
4 |
118,375,829 (GRCm38) |
unclassified |
probably benign |
|
|
R4704:Szt2
|
UTSW |
4 |
118,393,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4748:Szt2
|
UTSW |
4 |
118,389,191 (GRCm38) |
nonsense |
probably null |
|
|
R4786:Szt2
|
UTSW |
4 |
118,399,062 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4809:Szt2
|
UTSW |
4 |
118,388,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4830:Szt2
|
UTSW |
4 |
118,369,248 (GRCm38) |
missense |
unknown |
|
|
R4944:Szt2
|
UTSW |
4 |
118,388,669 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5077:Szt2
|
UTSW |
4 |
118,369,616 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5140:Szt2
|
UTSW |
4 |
118,386,981 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R5169:Szt2
|
UTSW |
4 |
118,389,830 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5198:Szt2
|
UTSW |
4 |
118,388,322 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5433:Szt2
|
UTSW |
4 |
118,375,466 (GRCm38) |
unclassified |
probably benign |
|
|
R5625:Szt2
|
UTSW |
4 |
118,373,217 (GRCm38) |
missense |
unknown |
|
|
R5628:Szt2
|
UTSW |
4 |
118,373,217 (GRCm38) |
missense |
unknown |
|
|
R5630:Szt2
|
UTSW |
4 |
118,392,905 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5808:Szt2
|
UTSW |
4 |
118,372,613 (GRCm38) |
missense |
unknown |
|
|
R5902:Szt2
|
UTSW |
4 |
118,391,503 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6049:Szt2
|
UTSW |
4 |
118,402,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6066:Szt2
|
UTSW |
4 |
118,371,974 (GRCm38) |
missense |
unknown |
|
|
R6272:Szt2
|
UTSW |
4 |
118,374,290 (GRCm38) |
unclassified |
probably benign |
|
|
R6456:Szt2
|
UTSW |
4 |
118,376,697 (GRCm38) |
unclassified |
probably benign |
|
|
R6538:Szt2
|
UTSW |
4 |
118,390,477 (GRCm38) |
splice site |
probably null |
|
|
R6604:Szt2
|
UTSW |
4 |
118,385,474 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6664:Szt2
|
UTSW |
4 |
118,391,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6834:Szt2
|
UTSW |
4 |
118,388,325 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7109:Szt2
|
UTSW |
4 |
118,375,479 (GRCm38) |
missense |
unknown |
|
|
R7163:Szt2
|
UTSW |
4 |
118,405,530 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7190:Szt2
|
UTSW |
4 |
118,389,006 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7289:Szt2
|
UTSW |
4 |
118,375,878 (GRCm38) |
missense |
unknown |
|
|
R7291:Szt2
|
UTSW |
4 |
118,391,249 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7383:Szt2
|
UTSW |
4 |
118,365,214 (GRCm38) |
nonsense |
probably null |
|
|
R7448:Szt2
|
UTSW |
4 |
118,363,471 (GRCm38) |
missense |
unknown |
|
|
R7637:Szt2
|
UTSW |
4 |
118,393,828 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7833:Szt2
|
UTSW |
4 |
118,366,219 (GRCm38) |
missense |
unknown |
|
|
R7896:Szt2
|
UTSW |
4 |
118,402,913 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7923:Szt2
|
UTSW |
4 |
118,373,840 (GRCm38) |
missense |
unknown |
|
|
R8090:Szt2
|
UTSW |
4 |
118,387,002 (GRCm38) |
splice site |
probably null |
|
|
R8103:Szt2
|
UTSW |
4 |
118,387,864 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8288:Szt2
|
UTSW |
4 |
118,389,776 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8309:Szt2
|
UTSW |
4 |
118,375,482 (GRCm38) |
frame shift |
probably null |
|
|
R8341:Szt2
|
UTSW |
4 |
118,392,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8480:Szt2
|
UTSW |
4 |
118,386,818 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8497:Szt2
|
UTSW |
4 |
118,388,321 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8549:Szt2
|
UTSW |
4 |
118,372,681 (GRCm38) |
missense |
unknown |
|
|
R8768:Szt2
|
UTSW |
4 |
118,369,416 (GRCm38) |
missense |
unknown |
|
|
R8992:Szt2
|
UTSW |
4 |
118,382,788 (GRCm38) |
splice site |
probably benign |
|
|
R9001:Szt2
|
UTSW |
4 |
118,378,332 (GRCm38) |
missense |
unknown |
|
|
R9094:Szt2
|
UTSW |
4 |
118,385,454 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9110:Szt2
|
UTSW |
4 |
118,385,433 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9129:Szt2
|
UTSW |
4 |
118,364,669 (GRCm38) |
missense |
unknown |
|
|
R9184:Szt2
|
UTSW |
4 |
118,384,529 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9186:Szt2
|
UTSW |
4 |
118,385,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9424:Szt2
|
UTSW |
4 |
118,390,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9598:Szt2
|
UTSW |
4 |
118,409,161 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0023:Szt2
|
UTSW |
4 |
118,372,404 (GRCm38) |
missense |
unknown |
|
|
Z1176:Szt2
|
UTSW |
4 |
118,393,976 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Szt2
|
UTSW |
4 |
118,391,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCGCTTTCAGTGACC -3'
(R):5'- AGATCAGCCGTCTGCACTTC -3'
Sequencing Primer
(F):5'- TGACCACACAGCAGGCAGATG -3'
(R):5'- TATTGCCCGCCATCCAGTAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation