Incidental Mutation 'R1998:Szt2'
ID 224514
Institutional Source Beutler Lab
Gene Symbol Szt2
Ensembl Gene ENSMUSG00000033253
Gene Name seizure threshold 2
Synonyms
MMRRC Submission 040008-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R1998 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118362743-118409273 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 118375727 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075406] [ENSMUST00000075406]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000075406
SMART Domains Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000075406
SMART Domains Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T G 5: 87,970,694 (GRCm38) N12K probably damaging Het
2700049A03Rik T A 12: 71,188,619 (GRCm38) S1114R possibly damaging Het
4931409K22Rik G A 5: 24,545,006 (GRCm38) R680C probably benign Het
Acot1 T A 12: 84,009,753 (GRCm38) W82R probably damaging Het
Adam22 T C 5: 8,329,995 (GRCm38) D101G probably damaging Het
Adcy9 T C 16: 4,297,412 (GRCm38) D705G probably benign Het
Adgrg3 T G 8: 95,036,668 (GRCm38) L244V probably damaging Het
Amh AGCGCCTTGG AG 10: 80,805,585 (GRCm38) probably null Het
Brinp1 C T 4: 68,762,553 (GRCm38) G580E probably damaging Het
Brwd1 G A 16: 96,021,288 (GRCm38) T1239M probably damaging Het
Camk1d A T 2: 5,362,025 (GRCm38) Y126* probably null Het
Camta1 T C 4: 151,077,880 (GRCm38) Y1560C probably damaging Het
Cbfa2t2 T A 2: 154,504,789 (GRCm38) L139M probably damaging Het
Cd226 T C 18: 89,207,219 (GRCm38) V80A probably damaging Het
Dgka C T 10: 128,729,939 (GRCm38) V367I probably benign Het
Dnajb13 A T 7: 100,504,610 (GRCm38) I206N probably benign Het
Dst A T 1: 34,256,347 (GRCm38) Q5693L probably damaging Het
Ear6 T A 14: 51,854,215 (GRCm38) I73N probably benign Het
Egr1 A G 18: 34,861,534 (GRCm38) I16V probably benign Het
Eif2s1 T A 12: 78,866,734 (GRCm38) C70S possibly damaging Het
Epcam T C 17: 87,640,474 (GRCm38) V124A probably damaging Het
Erbb2 T A 11: 98,428,953 (GRCm38) C624S probably damaging Het
Fam135b T A 15: 71,452,404 (GRCm38) H1238L probably damaging Het
Fam90a1a A G 8: 21,963,697 (GRCm38) D356G probably benign Het
Fbrsl1 G A 5: 110,376,439 (GRCm38) S127L probably benign Het
Fndc3c1 C T X: 106,420,705 (GRCm38) E1276K probably benign Het
Gbe1 A T 16: 70,569,041 (GRCm38) N702I probably damaging Het
Gm10643 A T 8: 84,064,424 (GRCm38) C20* probably null Het
Gpr156 A G 16: 37,997,908 (GRCm38) N322S possibly damaging Het
Gsdma T A 11: 98,673,694 (GRCm38) I333N probably damaging Het
Gstm1 A G 3: 108,014,811 (GRCm38) F170S probably damaging Het
Hgsnat C T 8: 25,945,252 (GRCm38) W618* probably null Het
Htr5a G A 5: 27,850,889 (GRCm38) V293M possibly damaging Het
Hyal4 A G 6: 24,756,311 (GRCm38) E176G probably benign Het
Jag1 T C 2: 137,090,938 (GRCm38) D546G probably damaging Het
Kbtbd3 A G 9: 4,330,760 (GRCm38) E378G probably benign Het
Lipo4 A G 19: 33,514,301 (GRCm38) V94A probably damaging Het
Magea10 A T X: 72,382,773 (GRCm38) I205K probably benign Het
Manea A G 4: 26,327,871 (GRCm38) L390P probably damaging Het
Mars T A 10: 127,300,478 (GRCm38) K493* probably null Het
Mars T C 10: 127,302,871 (GRCm38) I439V probably benign Het
Mboat2 A G 12: 24,946,673 (GRCm38) D225G possibly damaging Het
Mcmbp T A 7: 128,709,163 (GRCm38) E350V probably damaging Het
Mki67 A G 7: 135,705,770 (GRCm38) M459T probably benign Het
Mlf1 G A 3: 67,395,291 (GRCm38) G150R probably damaging Het
Mtmr14 A G 6: 113,277,924 (GRCm38) D294G probably null Het
Nlrp4e A C 7: 23,321,246 (GRCm38) Y386S probably benign Het
Nomo1 A G 7: 46,033,944 (GRCm38) D38G possibly damaging Het
Nudcd2 T C 11: 40,734,017 (GRCm38) W18R probably damaging Het
Olfr1140 T C 2: 87,746,972 (GRCm38) Y259H probably damaging Het
Olfr1155 G A 2: 87,943,146 (GRCm38) L161F probably benign Het
Olfr401 A G 11: 74,121,580 (GRCm38) Y97C probably benign Het
Olfr677 G T 7: 105,056,905 (GRCm38) V220L probably benign Het
Olfr742 T A 14: 50,515,356 (GRCm38) C51S probably benign Het
Pcnx2 A T 8: 125,887,143 (GRCm38) V523D probably damaging Het
Pkd1 T C 17: 24,573,014 (GRCm38) V1225A probably damaging Het
Plekhh2 T A 17: 84,606,877 (GRCm38) L1236Q possibly damaging Het
Ppp2r1b A G 9: 50,883,585 (GRCm38) D570G probably damaging Het
Prrc2c T A 1: 162,704,918 (GRCm38) probably benign Het
Rai14 C T 15: 10,594,981 (GRCm38) probably null Het
Rap1gap2 A G 11: 74,395,833 (GRCm38) L547P probably benign Het
Rims3 A T 4: 120,891,358 (GRCm38) M259L probably benign Het
Rsbn1l G A 5: 20,902,370 (GRCm38) H549Y probably damaging Het
Sart3 A C 5: 113,747,921 (GRCm38) probably null Het
Scn7a C A 2: 66,683,269 (GRCm38) G1156C probably damaging Het
Sh3rf2 T A 18: 42,141,083 (GRCm38) V406D probably damaging Het
Slitrk6 T C 14: 110,751,823 (GRCm38) I151V probably damaging Het
Smarca2 A T 19: 26,631,093 (GRCm38) Q260L probably benign Het
Smco1 A G 16: 32,273,840 (GRCm38) R110G probably damaging Het
Spef2 T A 15: 9,668,903 (GRCm38) probably null Het
Stab1 T A 14: 31,162,153 (GRCm38) K219* probably null Het
Sulf1 G T 1: 12,858,834 (GRCm38) E869* probably null Het
Susd1 T C 4: 59,349,925 (GRCm38) I504V probably benign Het
Tas1r3 A T 4: 155,862,920 (GRCm38) C103S probably damaging Het
Thg1l C A 11: 45,950,203 (GRCm38) W243L possibly damaging Het
Tlr4 A T 4: 66,840,470 (GRCm38) D500V probably damaging Het
Tmem72 A G 6: 116,716,564 (GRCm38) V5A probably benign Het
Tns4 T G 11: 99,085,703 (GRCm38) M131L probably benign Het
Trim66 C T 7: 109,484,577 (GRCm38) probably null Het
Ttll6 T A 11: 96,139,775 (GRCm38) probably null Het
Ttn A T 2: 76,969,703 (GRCm38) I387N probably damaging Het
Ubqln5 T A 7: 104,128,741 (GRCm38) Q292L probably damaging Het
Vmn1r74 G T 7: 11,847,375 (GRCm38) V201F probably damaging Het
Vmn2r28 G T 7: 5,488,314 (GRCm38) D311E possibly damaging Het
Vtn T A 11: 78,499,716 (GRCm38) V67E probably damaging Het
Xirp2 T A 2: 67,509,049 (GRCm38) F545I probably damaging Het
Other mutations in Szt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5121:Szt2 UTSW 4 118,385,444 (GRCm38) missense possibly damaging 0.92
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'- GTCTTCTGTACACAGTGAGGC -3'
(R):5'- CAATGGCTTTCCTCACAGGG -3'

Sequencing Primer
(F):5'- AGCTCCATGATGGCGTCG -3'
(R):5'- GGGTTGCCTGCATCACTCTAG -3'
Posted On 2014-08-25