Mutagenetix > Incidental Mutation

Incidental Mutation 'R5169:Szt2'

397429

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

042749-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R5169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118389830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 863 (T863A)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000075406
AA Change: T863A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: T863A

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: ENSMUST00000136737

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,877,817 (GRCm38)	Y964*	probably null	Het
Acsbg2	T	C	17: 56,849,913 (GRCm38)	K375R	probably benign	Het
Ago4	C	A	4: 126,511,727 (GRCm38)	R415L	probably benign	Het
Alpk1	A	T	3: 127,671,101 (GRCm38)	I1176N	probably damaging	Het
Arhgap25	A	T	6: 87,463,270 (GRCm38)	I465N	possibly damaging	Het
Arhgef10	A	G	8: 14,930,051 (GRCm38)	D97G	possibly damaging	Het
Cdc37	T	A	9: 21,141,117 (GRCm38)	M299L	probably benign	Het
Ddx54	C	A	5: 120,623,263 (GRCm38)	H453Q	probably damaging	Het
Dip2b	T	C	15: 100,205,113 (GRCm38)	Y1102H	probably damaging	Het
Dmpk	C	G	7: 19,088,019 (GRCm38)	L301V	probably benign	Het
Dop1a	T	C	9: 86,533,021 (GRCm38)	F1939L	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665 (GRCm38)	S81A	probably benign	Het
Ints7	T	C	1: 191,613,090 (GRCm38)	F631L	probably benign	Het
Itih1	A	T	14: 30,933,446 (GRCm38)	Y597*	probably null	Het
Kctd1	T	C	18: 15,062,765 (GRCm38)	E267G	possibly damaging	Het
Lrrc8e	A	G	8: 4,234,329 (GRCm38)	T185A	probably benign	Het
Maco1	T	C	4: 134,828,463 (GRCm38)	H233R	probably benign	Het
Masp2	T	C	4: 148,606,114 (GRCm38)	I276T	probably damaging	Het
Med17	A	T	9: 15,277,604 (GRCm38)	F122I	probably benign	Het
Milr1	C	T	11: 106,754,928 (GRCm38)	R99*	probably null	Het
Mpp4	T	C	1: 59,130,097 (GRCm38)		probably null	Het
Ms4a4d	C	T	19: 11,557,976 (GRCm38)	P213S	possibly damaging	Het
Mtcl1	T	C	17: 66,343,823 (GRCm38)	N1100S	probably benign	Het
Myom3	T	C	4: 135,775,578 (GRCm38)	I322T	probably benign	Het
Nav2	C	T	7: 49,548,483 (GRCm38)	Q1287*	probably null	Het
Nr3c2	A	T	8: 76,909,037 (GRCm38)	N256Y	probably damaging	Het
Nrde2	A	G	12: 100,129,293 (GRCm38)		probably null	Het
Otog	G	T	7: 46,298,148 (GRCm38)	A2242S	probably benign	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pcdh18	T	C	3: 49,755,966 (GRCm38)	D300G	possibly damaging	Het
Pcdh8	G	A	14: 79,767,655 (GRCm38)	P880S	probably benign	Het
Pcid2	A	G	8: 13,079,632 (GRCm38)		probably null	Het
Phkb	A	G	8: 85,896,491 (GRCm38)	H148R	probably benign	Het
Pik3r4	T	C	9: 105,678,161 (GRCm38)	S1106P	probably benign	Het
Pnpla7	A	T	2: 25,050,309 (GRCm38)	M1067L	probably benign	Het
Pp2d1	C	A	17: 53,507,902 (GRCm38)	G598V	possibly damaging	Het
Ppm1d	C	T	11: 85,332,370 (GRCm38)	A267V	probably damaging	Het
Psg29	C	T	7: 17,211,653 (GRCm38)	P383S	probably damaging	Het
Rc3h2	A	T	2: 37,405,312 (GRCm38)	F231I	probably damaging	Het
Rpl14	T	A	9: 120,572,188 (GRCm38)	D32E	possibly damaging	Het
Rpl32	G	T	6: 115,806,988 (GRCm38)	N92K	probably benign	Het
Rragc	A	G	4: 123,935,664 (GRCm38)	N391S	probably damaging	Het
Ryr3	C	T	2: 112,670,660 (GRCm38)	E3563K	possibly damaging	Het
Sh3rf2	A	G	18: 42,153,061 (GRCm38)	M508V	probably benign	Het
Shoc1	T	A	4: 59,059,618 (GRCm38)	Y1014F	possibly damaging	Het
Slc24a3	G	A	2: 145,640,264 (GRCm38)	C614Y	probably benign	Het
Spata31d1b	T	C	13: 59,716,495 (GRCm38)	S486P	probably damaging	Het
Spi1	A	T	2: 91,115,083 (GRCm38)	K170*	probably null	Het
Srgn	C	A	10: 62,495,087 (GRCm38)	D80Y	probably damaging	Het
St6galnac6	A	G	2: 32,614,845 (GRCm38)	K87R	possibly damaging	Het
Sytl3	A	T	17: 6,715,546 (GRCm38)	K134*	probably null	Het
Tcea3	A	T	4: 136,264,870 (GRCm38)		probably null	Het
Tg	T	A	15: 66,678,780 (GRCm38)	L253*	probably null	Het
Timm8a2	T	A	14: 122,034,726 (GRCm38)	S14T	probably benign	Het
Tppp3	G	C	8: 105,467,869 (GRCm38)	N166K	probably benign	Het
Trav2	G	A	14: 52,567,302 (GRCm38)	V4M	probably benign	Het
Trmt5	T	C	12: 73,282,721 (GRCm38)	D221G	probably damaging	Het
Ttc27	T	A	17: 74,747,695 (GRCm38)	L332*	probably null	Het
V1rd19	A	G	7: 24,003,784 (GRCm38)	N225S	possibly damaging	Het
Wdr20rt	A	T	12: 65,227,410 (GRCm38)	Q448L	probably damaging	Het
Zc3h7b	A	T	15: 81,773,314 (GRCm38)	N185I	probably benign	Het
Zmpste24	A	T	4: 121,068,717 (GRCm38)	I351N	probably 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
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
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'- CATGATCATCTAAAGCCAGCAG -3'
(R):5'- GTGTGTACCAACCTTCTGAAACC -3'

Sequencing Primer
(F):5'- GCTCCCTGCTCTGGTCTGG -3'
(R):5'- TTCTGAAACCTACCTCGGGG -3'

Posted On

2016-07-06