Mutagenetix > Incidental Mutation

Incidental Mutation 'R7190:Szt2'

559532

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

045273-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R7190 (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 118389006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 986 (H986L)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075406]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075406
AA Change: H986L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: H986L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	C	T	19: 53,216,899 (GRCm38)	R27*	probably null	Het
Armc3	T	A	2: 19,293,136 (GRCm38)	Y573N	probably damaging	Het
BC024978	G	A	7: 27,201,123 (GRCm38)	A176T	probably damaging	Het
Bod1l	A	C	5: 41,819,938 (GRCm38)	N1344K	probably benign	Het
Camta1	T	G	4: 151,148,523 (GRCm38)	N231T	possibly damaging	Het
Capza2	T	A	6: 17,654,121 (GRCm38)	Y57*	probably null	Het
Ccdc186	T	A	19: 56,792,000 (GRCm38)	I871F	probably damaging	Het
Cntnap5b	A	G	1: 100,431,849 (GRCm38)		probably null	Het
Dnah2	G	T	11: 69,549,097 (GRCm38)		probably null	Het
Fhod3	T	C	18: 25,090,755 (GRCm38)	F1053L	probably damaging	Het
Foxj1	A	G	11: 116,332,375 (GRCm38)	Y201H	possibly damaging	Het
Gatad2b	T	A	3: 90,350,415 (GRCm38)	I210N	probably benign	Het
Gba	T	A	3: 89,204,362 (GRCm38)	I112N	probably damaging	Het
Gbp2	T	C	3: 142,633,447 (GRCm38)	V420A	probably benign	Het
Gm3106	T	G	5: 94,218,237 (GRCm38)	N71K	probably benign	Het
Gm8251	A	C	1: 44,061,615 (GRCm38)	S108A	probably benign	Het
Golga3	T	A	5: 110,209,855 (GRCm38)	H1072Q	probably damaging	Het
Gpr150	C	T	13: 76,055,873 (GRCm38)	A318T	probably benign	Het
Gpr6	T	C	10: 41,070,960 (GRCm38)	N209D	probably damaging	Het
Grin2b	T	C	6: 135,732,948 (GRCm38)	N1200S	possibly damaging	Het
Ifi207	G	A	1: 173,730,252 (GRCm38)	H307Y	unknown	Het
Il20ra	A	T	10: 19,742,941 (GRCm38)	I46F	probably damaging	Het
Lvrn	A	G	18: 46,900,503 (GRCm38)	D927G	probably benign	Het
Nlrc4	G	T	17: 74,445,203 (GRCm38)	D728E	probably damaging	Het
Nup107	T	C	10: 117,762,135 (GRCm38)	D630G	probably benign	Het
Olfr378	A	T	11: 73,425,164 (GRCm38)	I273N	probably benign	Het
Olfr787	T	C	10: 129,462,757 (GRCm38)	I27T	probably benign	Het
Pclo	C	A	5: 14,679,729 (GRCm38)	A2867D	unknown	Het
Perm1	A	G	4: 156,219,815 (GRCm38)	T754A	possibly damaging	Het
Plpbp	G	T	8: 27,051,297 (GRCm38)	V162L	probably benign	Het
Plscr4	A	T	9: 92,488,641 (GRCm38)	E220D	probably benign	Het
Ppp2r3a	A	T	9: 101,212,527 (GRCm38)	M199K	probably benign	Het
Rassf6	T	C	5: 90,606,807 (GRCm38)	E204G	probably damaging	Het
Reln	A	C	5: 22,047,947 (GRCm38)	D667E	probably damaging	Het
Rere	A	G	4: 150,610,953 (GRCm38)	I462V	unknown	Het
Rpain	A	G	11: 70,971,909 (GRCm38)	E76G	possibly damaging	Het
Strc	T	G	2: 121,369,026 (GRCm38)	I1311L	probably benign	Het
Svil	A	G	18: 5,092,937 (GRCm38)	M1385V	probably benign	Het
Syne2	T	A	12: 76,066,587 (GRCm38)	D1083E	probably benign	Het
Tcl1b2	G	T	12: 105,147,234 (GRCm38)		probably null	Het
Thy1	T	A	9: 44,046,925 (GRCm38)	S117T	possibly damaging	Het
Tmem183a	A	T	1: 134,354,758 (GRCm38)	I203N	probably damaging	Het
Tmprss11g	T	C	5: 86,496,632 (GRCm38)	I118V	probably benign	Het
Tsen34	T	C	7: 3,694,807 (GRCm38)	V69A	possibly damaging	Het
Ttn	T	C	2: 76,886,799 (GRCm38)	Q7506R	unknown	Het
Vmn1r184	T	C	7: 26,267,680 (GRCm38)	S284P	probably damaging	Het
Wdr19	A	G	5: 65,240,862 (GRCm38)	D810G	probably benign	Het
Zer1	T	C	2: 30,103,432 (GRCm38)	D554G	probably damaging	Het
Zfp626	A	T	7: 27,818,343 (GRCm38)	T250S	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
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'- CTAGCAAAGCCCTTCCTTCAGC -3'
(R):5'- TGATACAGCTGTGCCAGAGC -3'

Sequencing Primer
(F):5'- AAGCCCTTCCTTCAGCCTTGG -3'
(R):5'- CCAGAGCAAGGAGTGGGGTC -3'

Posted On

2019-06-26