Incidental Mutation 'R1998:Szt2'
ID 224514
Institutional Source Beutler Lab
Gene Symbol Szt2
Ensembl Gene ENSMUSG00000033253
Gene Name SZT2 subunit of KICSTOR complex
Synonyms seaizure threshold 2
MMRRC Submission 040008-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.649) question?
Stock # R1998 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118219940-118266470 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 118232924 bp (GRCm39)
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: 88,118,553 (GRCm39) N12K probably damaging Het
2700049A03Rik T A 12: 71,235,393 (GRCm39) S1114R possibly damaging Het
Acot1 T A 12: 84,056,527 (GRCm39) W82R probably damaging Het
Adam22 T C 5: 8,379,995 (GRCm39) D101G probably damaging Het
Adcy9 T C 16: 4,115,276 (GRCm39) D705G probably benign Het
Adgrg3 T G 8: 95,763,296 (GRCm39) L244V probably damaging Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Brinp1 C T 4: 68,680,790 (GRCm39) G580E probably damaging Het
Brwd1 G A 16: 95,822,488 (GRCm39) T1239M probably damaging Het
Camk1d A T 2: 5,366,836 (GRCm39) Y126* probably null Het
Camta1 T C 4: 151,162,337 (GRCm39) Y1560C probably damaging Het
Cbfa2t2 T A 2: 154,346,709 (GRCm39) L139M probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Dgka C T 10: 128,565,808 (GRCm39) V367I probably benign Het
Dnajb13 A T 7: 100,153,817 (GRCm39) I206N probably benign Het
Dst A T 1: 34,295,428 (GRCm39) Q5693L probably damaging Het
Ear6 T A 14: 52,091,672 (GRCm39) I73N probably benign Het
Egr1 A G 18: 34,994,587 (GRCm39) I16V probably benign Het
Eif2s1 T A 12: 78,913,508 (GRCm39) C70S possibly damaging Het
Epcam T C 17: 87,947,902 (GRCm39) V124A probably damaging Het
Erbb2 T A 11: 98,319,779 (GRCm39) C624S probably damaging Het
Fam135b T A 15: 71,324,253 (GRCm39) H1238L probably damaging Het
Fam90a1a A G 8: 22,453,713 (GRCm39) D356G probably benign Het
Fbrsl1 G A 5: 110,524,305 (GRCm39) S127L probably benign Het
Fndc3c1 C T X: 105,464,311 (GRCm39) E1276K probably benign Het
Gbe1 A T 16: 70,365,929 (GRCm39) N702I probably damaging Het
Gm10643 A T 8: 84,791,053 (GRCm39) C20* probably null Het
Gpr156 A G 16: 37,818,270 (GRCm39) N322S possibly damaging Het
Gsdma T A 11: 98,564,520 (GRCm39) I333N probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Htr5a G A 5: 28,055,887 (GRCm39) V293M possibly damaging Het
Hyal4 A G 6: 24,756,310 (GRCm39) E176G probably benign Het
Iqca1l G A 5: 24,750,004 (GRCm39) R680C probably benign Het
Jag1 T C 2: 136,932,858 (GRCm39) D546G probably damaging Het
Kbtbd3 A G 9: 4,330,760 (GRCm39) E378G probably benign Het
Lipo4 A G 19: 33,491,701 (GRCm39) V94A probably damaging Het
Magea10 A T X: 71,426,379 (GRCm39) I205K probably benign Het
Manea A G 4: 26,327,871 (GRCm39) L390P probably damaging Het
Mars1 T A 10: 127,136,347 (GRCm39) K493* probably null Het
Mars1 T C 10: 127,138,740 (GRCm39) I439V probably benign Het
Mboat2 A G 12: 24,996,672 (GRCm39) D225G possibly damaging Het
Mcmbp T A 7: 128,310,887 (GRCm39) E350V probably damaging Het
Mki67 A G 7: 135,307,499 (GRCm39) M459T probably benign Het
Mlf1 G A 3: 67,302,624 (GRCm39) G150R probably damaging Het
Mtmr14 A G 6: 113,254,885 (GRCm39) D294G probably null Het
Nlrp4e A C 7: 23,020,671 (GRCm39) Y386S probably benign Het
Nomo1 A G 7: 45,683,368 (GRCm39) D38G possibly damaging Het
Nudcd2 T C 11: 40,624,844 (GRCm39) W18R probably damaging Het
Or11g26 T A 14: 50,752,813 (GRCm39) C51S probably benign Het
Or3a1b A G 11: 74,012,406 (GRCm39) Y97C probably benign Het
Or52e4 G T 7: 104,706,112 (GRCm39) V220L probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or5w16 T C 2: 87,577,316 (GRCm39) Y259H probably damaging Het
Pcnx2 A T 8: 126,613,882 (GRCm39) V523D probably damaging Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhh2 T A 17: 84,914,305 (GRCm39) L1236Q possibly damaging Het
Ppp2r1b A G 9: 50,794,885 (GRCm39) D570G probably damaging Het
Prrc2c T A 1: 162,532,487 (GRCm39) probably benign Het
Rai14 C T 15: 10,595,067 (GRCm39) probably null Het
Rap1gap2 A G 11: 74,286,659 (GRCm39) L547P probably benign Het
Rims3 A T 4: 120,748,555 (GRCm39) M259L probably benign Het
Rsbn1l G A 5: 21,107,368 (GRCm39) H549Y probably damaging Het
Sart3 A C 5: 113,885,982 (GRCm39) probably null Het
Scn7a C A 2: 66,513,613 (GRCm39) G1156C probably damaging Het
Sh3rf2 T A 18: 42,274,148 (GRCm39) V406D probably damaging Het
Slitrk6 T C 14: 110,989,255 (GRCm39) I151V probably damaging Het
Smarca2 A T 19: 26,608,493 (GRCm39) Q260L probably benign Het
Smco1 A G 16: 32,092,658 (GRCm39) R110G probably damaging Het
Spef2 T A 15: 9,668,989 (GRCm39) probably null Het
Stab1 T A 14: 30,884,110 (GRCm39) K219* probably null Het
Sulf1 G T 1: 12,929,058 (GRCm39) E869* probably null Het
Susd1 T C 4: 59,349,925 (GRCm39) I504V probably benign Het
Tas1r3 A T 4: 155,947,377 (GRCm39) C103S probably damaging Het
Thg1l C A 11: 45,841,030 (GRCm39) W243L possibly damaging Het
Tlr4 A T 4: 66,758,707 (GRCm39) D500V probably damaging Het
Tmem72 A G 6: 116,693,525 (GRCm39) V5A probably benign Het
Tns4 T G 11: 98,976,529 (GRCm39) M131L probably benign Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttll6 T A 11: 96,030,601 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Vmn1r74 G T 7: 11,581,302 (GRCm39) V201F probably damaging Het
Vmn2r28 G T 7: 5,491,313 (GRCm39) D311E possibly damaging Het
Vtn T A 11: 78,390,542 (GRCm39) V67E probably damaging Het
Xirp2 T A 2: 67,339,393 (GRCm39) F545I probably damaging Het
Other mutations in Szt2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTCTTCTGTACACAGTGAGGC -3'
(R):5'- CAATGGCTTTCCTCACAGGG -3'

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