Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Szt2'

193180

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R1763 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118372368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 2820 (W2820R)

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: W2820R

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: W2820R

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: W351R

Meta Mutation Damage Score

0.9034

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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
Abca4	A	T	3: 122,163,830 (GRCm38)	T772S	probably damaging	Het
Abca4	G	A	3: 122,110,681 (GRCm38)	V794M	probably benign	Het
Acox3	G	A	5: 35,608,339 (GRCm38)		probably null	Het
Adamts17	A	G	7: 67,147,715 (GRCm38)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483 (GRCm38)	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991 (GRCm38)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015 (GRCm38)	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589 (GRCm38)		probably null	Het
Bloc1s5	A	G	13: 38,619,084 (GRCm38)		probably benign	Het
Btbd9	T	C	17: 30,334,297 (GRCm38)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196 (GRCm38)	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951 (GRCm38)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121 (GRCm38)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636 (GRCm38)	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406 (GRCm38)	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880 (GRCm38)		probably null	Het
Chrna7	A	G	7: 63,099,252 (GRCm38)	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425 (GRCm38)	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176 (GRCm38)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979 (GRCm38)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031 (GRCm38)		probably null	Het
Dlk1	G	T	12: 109,458,119 (GRCm38)	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139 (GRCm38)	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176 (GRCm38)		probably benign	Het
Dus1l	C	G	11: 120,795,671 (GRCm38)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823 (GRCm38)	V268L	probably benign	Het
F2	A	C	2: 91,634,906 (GRCm38)	C104W	probably damaging	Het
F5	C	A	1: 164,192,535 (GRCm38)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266 (GRCm38)	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622 (GRCm38)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767 (GRCm38)	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266 (GRCm38)	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959 (GRCm38)	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322 (GRCm38)	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866 (GRCm38)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867 (GRCm38)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590 (GRCm38)	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077 (GRCm38)		probably null	Het
Ifi27	C	T	12: 103,437,682 (GRCm38)	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481 (GRCm38)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877 (GRCm38)	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060 (GRCm38)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191 (GRCm38)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252 (GRCm38)	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757 (GRCm38)		probably benign	Het
Mtmr7	T	C	8: 40,551,811 (GRCm38)	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576 (GRCm38)	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410 (GRCm38)	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337 (GRCm38)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647 (GRCm38)	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271 (GRCm38)	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436 (GRCm38)	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129 (GRCm38)	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441 (GRCm38)	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038 (GRCm38)	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430 (GRCm38)	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098 (GRCm38)	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630 (GRCm38)	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595 (GRCm38)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547 (GRCm38)	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995 (GRCm38)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542 (GRCm38)	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170 (GRCm38)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm38)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640 (GRCm38)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425 (GRCm38)	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605 (GRCm38)	R708*	probably null	Het
Sept9	T	C	11: 117,290,428 (GRCm38)	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058 (GRCm38)	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587 (GRCm38)		probably benign	Het
Slc6a21	G	A	7: 45,287,734 (GRCm38)	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731 (GRCm38)	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416 (GRCm38)	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965 (GRCm38)	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949 (GRCm38)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784 (GRCm38)	K458E	probably damaging	Het
Tmtc1	C	A	6: 148,294,618 (GRCm38)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066 (GRCm38)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822 (GRCm38)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428 (GRCm38)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376 (GRCm38)	L388P	possibly damaging	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
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
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'- AATGCACCAAGCGGGATGACTG -3'
(R):5'- TCCCTTTGATGAAGCTCTGAGGGAC -3'

Sequencing Primer
(F):5'- GATGACTGCTTCAGGGTCTCC -3'
(R):5'- ACGGGCAGCAGTTCTTAG -3'

Posted On

2014-05-23