Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Szt2'

630560

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

067534-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118387864 bp (GRCm38)

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,834 (GRCm38)	D216G	probably benign	Het
4930430F08Rik	C	A	10: 100,577,248 (GRCm38)	V178F	probably benign	Het
9030624J02Rik	T	C	7: 118,743,632 (GRCm38)	S47P	probably benign	Het
Abcg5	A	T	17: 84,658,528 (GRCm38)	I640K	possibly damaging	Het
Acadvl	T	C	11: 70,014,342 (GRCm38)	K128R	probably benign	Het
Angptl7	T	A	4: 148,496,561 (GRCm38)	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,679,681 (GRCm38)	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,188,216 (GRCm38)	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,371,124 (GRCm38)	T376A		Het
Atf6b	T	G	17: 34,653,975 (GRCm38)	S622A	probably damaging	Het
Atp5h	T	A	11: 115,416,025 (GRCm38)	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,931,543 (GRCm38)	L307P	probably damaging	Het
B4galnt4	C	T	7: 141,064,651 (GRCm38)	T153M	possibly damaging	Het
Brd8	A	G	18: 34,607,178 (GRCm38)	V604A	probably benign	Het
Ccser2	T	C	14: 36,896,283 (GRCm38)	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,468,213 (GRCm38)	D433G	probably damaging	Het
Cep85l	T	G	10: 53,299,324 (GRCm38)		probably null	Het
Col23a1	T	A	11: 51,570,187 (GRCm38)		probably null	Het
Col7a1	A	G	9: 108,975,384 (GRCm38)	D2261G	unknown	Het
Comp	C	A	8: 70,381,286 (GRCm38)	N650K	probably damaging	Het
Copb1	A	G	7: 114,234,967 (GRCm38)	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,749,195 (GRCm38)	S743T	probably damaging	Het
Ddx39	A	G	8: 83,724,476 (GRCm38)		probably null	Het
Dgkb	A	G	12: 38,136,581 (GRCm38)	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,283,114 (GRCm38)	Y691D	probably damaging	Het
Duox2	C	T	2: 122,287,054 (GRCm38)	S933N	probably benign	Het
Ece1	T	C	4: 137,913,822 (GRCm38)	S19P	probably benign	Het
Edem1	G	A	6: 108,852,563 (GRCm38)	E548K	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,577 (GRCm38)	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,829,388 (GRCm38)	N574K	probably benign	Het
Glb1l2	T	A	9: 26,765,684 (GRCm38)	M551L	probably benign	Het
Gm3376	C	T	Y: 3,776,675 (GRCm38)	T104I	possibly damaging	Het
Gm5580	C	T	6: 116,551,507 (GRCm38)	T115I	probably damaging	Het
Gm7694	G	T	1: 170,302,715 (GRCm38)	P38Q	probably damaging	Het
Grip1	A	G	10: 119,978,535 (GRCm38)	T324A	probably benign	Het
Htr3b	A	G	9: 48,946,549 (GRCm38)	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,198,106 (GRCm38)	C50R	probably damaging	Het
Il5ra	A	G	6: 106,715,650 (GRCm38)	I378T	possibly damaging	Het
Ints11	T	C	4: 155,888,230 (GRCm38)	L504P	possibly damaging	Het
Iqca	A	T	1: 90,059,608 (GRCm38)	I74N		Het
Kbtbd12	C	T	6: 88,618,681 (GRCm38)	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,479,396 (GRCm38)	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,815,381 (GRCm38)	D815G	probably benign	Het
Lnpk	T	C	2: 74,522,255 (GRCm38)	Q361R	probably benign	Het
Mep1b	T	C	18: 21,089,385 (GRCm38)	I277T	possibly damaging	Het
Naip6	G	A	13: 100,301,343 (GRCm38)	T385I	probably benign	Het
Narfl	A	G	17: 25,777,421 (GRCm38)	T135A	probably benign	Het
Npepl1	A	T	2: 174,111,209 (GRCm38)	I95F	probably benign	Het
Nxpe4	T	C	9: 48,392,720 (GRCm38)	F36L	probably benign	Het
Olfr129	A	T	17: 38,055,012 (GRCm38)	C185S	probably damaging	Het
Olfr393	C	T	11: 73,847,909 (GRCm38)	C72Y	probably damaging	Het
Optn	C	A	2: 5,040,202 (GRCm38)	C243F	probably damaging	Het
Paqr7	T	C	4: 134,507,510 (GRCm38)	V226A	probably benign	Het
Pcdh12	T	A	18: 38,282,159 (GRCm38)	I638F	probably damaging	Het
Pfas	T	C	11: 68,992,293 (GRCm38)	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,200,757 (GRCm38)	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,871,082 (GRCm38)	H531L	probably benign	Het
Pom121l2	A	G	13: 21,982,374 (GRCm38)	T272A	probably benign	Het
Pparg	T	C	6: 115,473,141 (GRCm38)	V367A	possibly damaging	Het
Psen2	A	T	1: 180,240,791 (GRCm38)	M99K	probably damaging	Het
Ranbp10	T	C	8: 105,772,547 (GRCm38)	T536A	probably benign	Het
Rbfox2	G	T	15: 77,099,454 (GRCm38)	P284T	probably damaging	Het
Rere	G	A	4: 150,617,339 (GRCm38)	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,709,266 (GRCm38)	L119Q	probably null	Het
Rreb1	A	G	13: 37,941,701 (GRCm38)	T1328A	probably benign	Het
Sept11	A	T	5: 93,161,148 (GRCm38)		probably null	Het
Skida1	T	A	2: 18,047,738 (GRCm38)	Q201L	probably benign	Het
Sptan1	T	A	2: 30,020,043 (GRCm38)	I1805N	probably damaging	Het
Stard13	T	A	5: 151,046,970 (GRCm38)	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916 (GRCm38)		probably null	Het
Tbcc	A	C	17: 46,891,120 (GRCm38)	D144A	probably benign	Het
Tsn	A	G	1: 118,304,707 (GRCm38)	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121 (GRCm38)	T99S	probably damaging	Het
Vcan	T	A	13: 89,657,658 (GRCm38)	E3261V	probably damaging	Het
Vcan	C	A	13: 89,703,320 (GRCm38)	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,531,153 (GRCm38)		probably null	Het
Vmn2r65	A	G	7: 84,946,711 (GRCm38)	I255T	probably damaging	Het
Wdr70	A	G	15: 7,977,131 (GRCm38)	L313P	possibly damaging	Het
Ythdf2	C	A	4: 132,204,778 (GRCm38)	R357L	probably damaging	Het
Zfp523	T	C	17: 28,201,293 (GRCm38)	C262R	probably damaging	Het
Zfp553	T	C	7: 127,236,764 (GRCm38)	V497A	probably benign	Het
Zhx1	A	G	15: 58,053,266 (GRCm38)	L528S	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
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
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'- ACGTCTTCACATTCTTAGTGGC -3'
(R):5'- ACTGCTATGCAAGGCTTCTG -3'

Sequencing Primer
(F):5'- AGTGGCTTTTCAACCCCAC -3'
(R):5'- TCAGCACGTGTTCCTGAC -3'

Posted On

2020-06-30