Incidental Mutation 'R8103:Szt2'
ID 630560
Institutional Source Beutler Lab
Gene Symbol Szt2
Ensembl Gene ENSMUSG00000033253
Gene Name SZT2 subunit of KICSTOR complex
Synonyms seaizure threshold 2
MMRRC Submission 067534-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.610) question?
Stock # R8103 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 118219940-118266470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118245061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1158 (Q1158H)
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: Q1158H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: Q1158H

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.4%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,668 (GRCm39) D216G probably benign Het
Abcg5 A T 17: 84,965,956 (GRCm39) I640K possibly damaging Het
Acadvl T C 11: 69,905,168 (GRCm39) K128R probably benign Het
Angptl7 T A 4: 148,581,018 (GRCm39) N259I probably damaging Het
Ankrd35 A G 3: 96,586,997 (GRCm39) K104R possibly damaging Het
Antxr1 T C 6: 87,165,198 (GRCm39) N413S probably damaging Het
Arhgap26 A G 18: 39,504,177 (GRCm39) T376A Het
Atf6b T G 17: 34,872,949 (GRCm39) S622A probably damaging Het
Atp5pd T A 11: 115,306,851 (GRCm39) Y115F possibly damaging Het
Axin2 T C 11: 108,822,369 (GRCm39) L307P probably damaging Het
B4galnt4 C T 7: 140,644,564 (GRCm39) T153M possibly damaging Het
Brd8 A G 18: 34,740,231 (GRCm39) V604A probably benign Het
Ccser2 T C 14: 36,618,240 (GRCm39) Y765C probably damaging Het
Cdh26 A G 2: 178,110,006 (GRCm39) D433G probably damaging Het
Cep85l T G 10: 53,175,420 (GRCm39) probably null Het
Ciao3 A G 17: 25,996,395 (GRCm39) T135A probably benign Het
Col23a1 T A 11: 51,461,014 (GRCm39) probably null Het
Col7a1 A G 9: 108,804,452 (GRCm39) D2261G unknown Het
Comp C A 8: 70,833,936 (GRCm39) N650K probably damaging Het
Copb1 A G 7: 113,834,202 (GRCm39) M476T possibly damaging Het
Dapk1 T A 13: 60,897,009 (GRCm39) S743T probably damaging Het
Ddx39a A G 8: 84,451,105 (GRCm39) probably null Het
Dgkb A G 12: 38,186,580 (GRCm39) H243R probably damaging Het
Dsg1c T G 18: 20,416,171 (GRCm39) Y691D probably damaging Het
Duox2 C T 2: 122,117,535 (GRCm39) S933N probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Edem1 G A 6: 108,829,524 (GRCm39) E548K probably damaging Het
Eif4a3l2 C T 6: 116,528,468 (GRCm39) T115I probably damaging Het
Fpr-rs6 A G 17: 20,402,839 (GRCm39) V174A possibly damaging Het
Fyco1 A T 9: 123,658,453 (GRCm39) N574K probably benign Het
Glb1l2 T A 9: 26,676,980 (GRCm39) M551L probably benign Het
Gm7694 G T 1: 170,130,284 (GRCm39) P38Q probably damaging Het
Grip1 A G 10: 119,814,440 (GRCm39) T324A probably benign Het
Htr3b A G 9: 48,857,849 (GRCm39) V131A possibly damaging Het
Igfbp1 T C 11: 7,148,106 (GRCm39) C50R probably damaging Het
Il5ra A G 6: 106,692,611 (GRCm39) I378T possibly damaging Het
Ints11 T C 4: 155,972,687 (GRCm39) L504P possibly damaging Het
Iqca1 A T 1: 89,987,330 (GRCm39) I74N Het
Kbtbd12 C T 6: 88,595,663 (GRCm39) A56T probably damaging Het
Kcnq5 T C 1: 21,549,620 (GRCm39) N369S possibly damaging Het
Kmt5b A G 19: 3,865,381 (GRCm39) D815G probably benign Het
Lnpk T C 2: 74,352,599 (GRCm39) Q361R probably benign Het
Mep1b T C 18: 21,222,442 (GRCm39) I277T possibly damaging Het
Naip6 G A 13: 100,437,851 (GRCm39) T385I probably benign Het
Npepl1 A T 2: 173,953,002 (GRCm39) I95F probably benign Het
Nxpe4 T C 9: 48,304,020 (GRCm39) F36L probably benign Het
Optn C A 2: 5,045,013 (GRCm39) C243F probably damaging Het
Or10al7 A T 17: 38,365,903 (GRCm39) C185S probably damaging Het
Or1e33 C T 11: 73,738,735 (GRCm39) C72Y probably damaging Het
Paqr7 T C 4: 134,234,821 (GRCm39) V226A probably benign Het
Pcdh12 T A 18: 38,415,212 (GRCm39) I638F probably damaging Het
Pfas T C 11: 68,883,119 (GRCm39) T722A probably damaging Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Plxnc1 T A 10: 94,706,944 (GRCm39) H531L probably benign Het
Pom121l2 A G 13: 22,166,544 (GRCm39) T272A probably benign Het
Pparg T C 6: 115,450,102 (GRCm39) V367A possibly damaging Het
Psen2 A T 1: 180,068,356 (GRCm39) M99K probably damaging Het
Ranbp10 T C 8: 106,499,179 (GRCm39) T536A probably benign Het
Rbfox2 G T 15: 76,983,654 (GRCm39) P284T probably damaging Het
Rbmyf9 C T Y: 3,776,675 (GRCm39) T104I possibly damaging Het
Rere G A 4: 150,701,796 (GRCm39) R25H probably damaging Het
Rhpn1 T A 15: 75,581,115 (GRCm39) L119Q probably null Het
Rlig1 C A 10: 100,413,110 (GRCm39) V178F probably benign Het
Rreb1 A G 13: 38,125,677 (GRCm39) T1328A probably benign Het
Septin11 A T 5: 93,309,007 (GRCm39) probably null Het
Skida1 T A 2: 18,052,549 (GRCm39) Q201L probably benign Het
Sptan1 T A 2: 29,910,055 (GRCm39) I1805N probably damaging Het
Stard13 T A 5: 150,970,435 (GRCm39) Q853L possibly damaging Het
Susd1 T A 4: 59,365,916 (GRCm39) probably null Het
Tbcc A C 17: 47,202,046 (GRCm39) D144A probably benign Het
Tsn A G 1: 118,232,437 (GRCm39) I146T probably benign Het
Umad1 A T 6: 8,427,121 (GRCm39) T99S probably damaging Het
Vcan T A 13: 89,805,777 (GRCm39) E3261V probably damaging Het
Vcan C A 13: 89,851,439 (GRCm39) E1174* probably null Het
Vmn2r100 C A 17: 19,751,415 (GRCm39) probably null Het
Vmn2r65 A G 7: 84,595,919 (GRCm39) I255T probably damaging Het
Vps35l T C 7: 118,342,855 (GRCm39) S47P probably benign Het
Wdr70 A G 15: 8,006,612 (GRCm39) L313P possibly damaging Het
Ythdf2 C A 4: 131,932,089 (GRCm39) R357L probably damaging Het
Zfp523 T C 17: 28,420,267 (GRCm39) C262R probably damaging Het
Zfp553 T C 7: 126,835,936 (GRCm39) V497A probably benign Het
Zhx1 A G 15: 57,916,662 (GRCm39) L528S probably benign 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
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
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
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'- ACGTCTTCACATTCTTAGTGGC -3'
(R):5'- ACTGCTATGCAAGGCTTCTG -3'

Sequencing Primer
(F):5'- AGTGGCTTTTCAACCCCAC -3'
(R):5'- TCAGCACGTGTTCCTGAC -3'
Posted On 2020-06-30