Mutagenetix > Incidental Mutation

Incidental Mutation 'R2066:Szt2'

226664

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

SZT2 subunit of KICSTOR complex

Synonyms

seaizure threshold 2

MMRRC Submission

040071-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R2066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118219940-118266470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118231177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 2529 (M2529V)

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: M2529V

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: M2529V

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: ENSMUST00000138386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138632

Predicted Effect

unknown
Transcript: ENSMUST00000183402
AA Change: M60V

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Acadl	C	T	1: 66,880,905 (GRCm39)		probably null	Het
Acss1	G	A	2: 150,510,051 (GRCm39)	Q23*	probably null	Het
Afap1l1	A	T	18: 61,872,193 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano5	T	G	7: 51,235,134 (GRCm39)	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,439,781 (GRCm39)	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,786,735 (GRCm39)	L151P	probably damaging	Het
Bach1	A	T	16: 87,526,513 (GRCm39)	K658N	probably damaging	Het
Bdnf	C	A	2: 109,554,247 (GRCm39)	T207K	probably damaging	Het
Bod1l	G	T	5: 41,962,499 (GRCm39)	T2746K	probably damaging	Het
Brwd1	A	G	16: 95,847,665 (GRCm39)	S652P	probably benign	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Clasp2	T	A	9: 113,735,225 (GRCm39)	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cntn6	C	T	6: 104,838,783 (GRCm39)	R946*	probably null	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,098,640 (GRCm39)	I471N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Emx2	A	G	19: 59,450,130 (GRCm39)	N149S	probably benign	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Filip1	A	G	9: 79,727,498 (GRCm39)	S374P	probably damaging	Het
Fry	T	A	5: 150,293,584 (GRCm39)		probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Hdlbp	A	G	1: 93,349,602 (GRCm39)		probably benign	Het
Hunk	G	A	16: 90,278,133 (GRCm39)		probably null	Het
Ifnb1	T	A	4: 88,440,996 (GRCm39)	I6F	possibly damaging	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Ints1	A	G	5: 139,753,251 (GRCm39)	V720A	probably benign	Het
Invs	T	A	4: 48,396,287 (GRCm39)	L320Q	probably damaging	Het
Jpt2	G	A	17: 25,167,713 (GRCm39)	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179 (GRCm39)	L267P	probably benign	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Meiob	G	T	17: 25,037,290 (GRCm39)	R56L	probably damaging	Het
Mindy3	A	T	2: 12,424,060 (GRCm39)	S2T	probably damaging	Het
Mrm3	A	T	11: 76,141,147 (GRCm39)	D385V	probably damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,875,567 (GRCm39)	V1701A	probably damaging	Het
Nipal4	T	G	11: 46,047,622 (GRCm39)	D104A	probably damaging	Het
Npas4	A	G	19: 5,037,442 (GRCm39)	V284A	probably damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Obscn	G	A	11: 59,026,558 (GRCm39)	A215V	possibly damaging	Het
Or4c113	A	G	2: 88,885,243 (GRCm39)	Y176H	probably damaging	Het
Or8b12i	G	T	9: 20,082,850 (GRCm39)	Q6K	probably benign	Het
Or8g24	T	C	9: 38,989,510 (GRCm39)	Y177C	probably damaging	Het
Pgs1	G	A	11: 117,905,396 (GRCm39)		probably benign	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Phldb2	A	T	16: 45,591,121 (GRCm39)	L970Q	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,173,352 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,098,042 (GRCm39)	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,263,487 (GRCm39)	T112I	probably damaging	Het
Sec61g	T	C	11: 16,458,124 (GRCm39)	T24A	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Sorbs1	T	C	19: 40,353,472 (GRCm39)		probably null	Het
Sox2	C	A	3: 34,705,456 (GRCm39)	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,167,737 (GRCm39)		probably null	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tpp2	T	G	1: 44,017,598 (GRCm39)	I734S	possibly damaging	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ttc28	C	A	5: 111,373,799 (GRCm39)	F1078L	probably benign	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,211,483 (GRCm39)	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,466,175 (GRCm39)	V284D	probably benign	Het
Zfp668	C	A	7: 127,466,203 (GRCm39)	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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'- TCCAGCCATTGAGATGACCAG -3'
(R):5'- CCCAGAGACAAAGGTATATGTGTG -3'

Sequencing Primer
(F):5'- TGGTGAACTCTGACAGGATGG -3'
(R):5'- GACAAAGGTATATGTGTGGTATGC -3'

Posted On

2014-09-17