Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Szt2'

224514

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 118375727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000075406

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253

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

probably null
Transcript: ENSMUST00000075406

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253

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

probably benign
Transcript: ENSMUST00000183402

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 87,970,694	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,188,619	S1114R	possibly damaging	Het
4931409K22Rik	G	A	5: 24,545,006	R680C	probably benign	Het
Acot1	T	A	12: 84,009,753	W82R	probably damaging	Het
Adam22	T	C	5: 8,329,995	D101G	probably damaging	Het
Adcy9	T	C	16: 4,297,412	D705G	probably benign	Het
Adgrg3	T	G	8: 95,036,668	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
Brinp1	C	T	4: 68,762,553	G580E	probably damaging	Het
Brwd1	G	A	16: 96,021,288	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,362,025	Y126*	probably null	Het
Camta1	T	C	4: 151,077,880	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,789	L139M	probably damaging	Het
Cd226	T	C	18: 89,207,219	V80A	probably damaging	Het
Dgka	C	T	10: 128,729,939	V367I	probably benign	Het
Dnajb13	A	T	7: 100,504,610	I206N	probably benign	Het
Dst	A	T	1: 34,256,347	Q5693L	probably damaging	Het
Ear6	T	A	14: 51,854,215	I73N	probably benign	Het
Egr1	A	G	18: 34,861,534	I16V	probably benign	Het
Eif2s1	T	A	12: 78,866,734	C70S	possibly damaging	Het
Epcam	T	C	17: 87,640,474	V124A	probably damaging	Het
Erbb2	T	A	11: 98,428,953	C624S	probably damaging	Het
Fam135b	T	A	15: 71,452,404	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 21,963,697	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,376,439	S127L	probably benign	Het
Fndc3c1	C	T	X: 106,420,705	E1276K	probably benign	Het
Gbe1	A	T	16: 70,569,041	N702I	probably damaging	Het
Gm10643	A	T	8: 84,064,424	C20*	probably null	Het
Gpr156	A	G	16: 37,997,908	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,673,694	I333N	probably damaging	Het
Gstm1	A	G	3: 108,014,811	F170S	probably damaging	Het
Hgsnat	C	T	8: 25,945,252	W618*	probably null	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,311	E176G	probably benign	Het
Jag1	T	C	2: 137,090,938	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760	E378G	probably benign	Het
Lipo4	A	G	19: 33,514,301	V94A	probably damaging	Het
Magea10	A	T	X: 72,382,773	I205K	probably benign	Het
Manea	A	G	4: 26,327,871	L390P	probably damaging	Het
Mars	T	A	10: 127,300,478	K493*	probably null	Het
Mars	T	C	10: 127,302,871	I439V	probably benign	Het
Mboat2	A	G	12: 24,946,673	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,709,163	E350V	probably damaging	Het
Mki67	A	G	7: 135,705,770	M459T	probably benign	Het
Mlf1	G	A	3: 67,395,291	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,277,924	D294G	probably null	Het
Nlrp4e	A	C	7: 23,321,246	Y386S	probably benign	Het
Nomo1	A	G	7: 46,033,944	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,734,017	W18R	probably damaging	Het
Olfr1140	T	C	2: 87,746,972	Y259H	probably damaging	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr677	G	T	7: 105,056,905	V220L	probably benign	Het
Olfr742	T	A	14: 50,515,356	C51S	probably benign	Het
Pcnx2	A	T	8: 125,887,143	V523D	probably damaging	Het
Pkd1	T	C	17: 24,573,014	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,606,877	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,883,585	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,704,918		probably benign	Het
Rai14	C	T	15: 10,594,981		probably null	Het
Rap1gap2	A	G	11: 74,395,833	L547P	probably benign	Het
Rims3	A	T	4: 120,891,358	M259L	probably benign	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Sart3	A	C	5: 113,747,921		probably null	Het
Scn7a	C	A	2: 66,683,269	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,141,083	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,751,823	I151V	probably damaging	Het
Smarca2	A	T	19: 26,631,093	Q260L	probably benign	Het
Smco1	A	G	16: 32,273,840	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,903		probably null	Het
Stab1	T	A	14: 31,162,153	K219*	probably null	Het
Sulf1	G	T	1: 12,858,834	E869*	probably null	Het
Susd1	T	C	4: 59,349,925	I504V	probably benign	Het
Tas1r3	A	T	4: 155,862,920	C103S	probably damaging	Het
Thg1l	C	A	11: 45,950,203	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,840,470	D500V	probably damaging	Het
Tmem72	A	G	6: 116,716,564	V5A	probably benign	Het
Tns4	T	G	11: 99,085,703	M131L	probably benign	Het
Trim66	C	T	7: 109,484,577		probably null	Het
Ttll6	T	A	11: 96,139,775		probably null	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ubqln5	T	A	7: 104,128,741	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,847,375	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,488,314	D311E	possibly damaging	Het
Vtn	T	A	11: 78,499,716	V67E	probably damaging	Het
Xirp2	T	A	2: 67,509,049	F545I	probably damaging	Het

Other mutations in Szt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Szt2	APN	4	118384250	splice site	probably benign
IGL01082:Szt2	APN	4	118397624	missense	probably damaging	1.00
IGL01348:Szt2	APN	4	118393624	splice site	probably benign
IGL01869:Szt2	APN	4	118399071	missense	possibly damaging	0.87
IGL01918:Szt2	APN	4	118384253	splice site	probably benign
IGL01951:Szt2	APN	4	118376493	unclassified	probably benign
IGL01971:Szt2	APN	4	118386955	missense	probably benign	0.01
IGL02047:Szt2	APN	4	118376637	unclassified	probably benign
IGL02092:Szt2	APN	4	118363332	unclassified	probably benign
IGL02120:Szt2	APN	4	118388564	missense	probably benign	0.01
IGL02210:Szt2	APN	4	118389823	missense	possibly damaging	0.95
IGL02435:Szt2	APN	4	118390823	missense	probably damaging	1.00
IGL02622:Szt2	APN	4	118392890	missense	probably damaging	0.96
IGL02666:Szt2	APN	4	118374055	missense	probably damaging	0.99
IGL02712:Szt2	APN	4	118384833	missense	probably benign	0.19
IGL02983:Szt2	APN	4	118365779	unclassified	probably benign
IGL03026:Szt2	APN	4	118391849	missense	probably benign	0.40
IGL03178:Szt2	APN	4	118382689	missense	unknown
IGL03233:Szt2	APN	4	118372529	missense	unknown
IGL03377:Szt2	APN	4	118402397	splice site	probably benign
IGL03387:Szt2	APN	4	118364725	unclassified	probably benign
PIT4687001:Szt2	UTSW	4	118398201	missense	possibly damaging	0.84
R0026:Szt2	UTSW	4	118384772	missense	possibly damaging	0.92
R0352:Szt2	UTSW	4	118382593	missense	unknown
R0396:Szt2	UTSW	4	118376347	unclassified	probably benign
R0504:Szt2	UTSW	4	118372952	splice site	probably null
R1033:Szt2	UTSW	4	118387106	missense	probably damaging	0.98
R1222:Szt2	UTSW	4	118405459	missense	possibly damaging	0.77
R1418:Szt2	UTSW	4	118387779	missense	probably benign	0.03
R1462:Szt2	UTSW	4	118373967	missense	unknown
R1462:Szt2	UTSW	4	118373967	missense	unknown
R1763:Szt2	UTSW	4	118372368	missense	unknown
R1772:Szt2	UTSW	4	118405517	missense	probably damaging	1.00
R1840:Szt2	UTSW	4	118365657	unclassified	probably benign
R1942:Szt2	UTSW	4	118392620	missense	probably benign	0.17
R1965:Szt2	UTSW	4	118383965	missense	probably benign	0.36
R2009:Szt2	UTSW	4	118378064	critical splice donor site	probably null
R2012:Szt2	UTSW	4	118363665	unclassified	probably benign
R2044:Szt2	UTSW	4	118376448	nonsense	probably null
R2066:Szt2	UTSW	4	118373980	missense	unknown
R2345:Szt2	UTSW	4	118381397	missense	unknown
R2857:Szt2	UTSW	4	118369402	missense	probably damaging	1.00
R3156:Szt2	UTSW	4	118402819	critical splice donor site	probably null
R3236:Szt2	UTSW	4	118383034	splice site	probably null
R3237:Szt2	UTSW	4	118383034	splice site	probably null
R3405:Szt2	UTSW	4	118394020	missense	probably benign	0.02
R3795:Szt2	UTSW	4	118391730	missense	probably damaging	1.00
R3878:Szt2	UTSW	4	118390585	missense	probably damaging	1.00
R3906:Szt2	UTSW	4	118378269	unclassified	probably benign
R4012:Szt2	UTSW	4	118383900	missense	probably benign	0.02
R4039:Szt2	UTSW	4	118364952	unclassified	probably benign
R4081:Szt2	UTSW	4	118373567	splice site	probably benign
R4298:Szt2	UTSW	4	118365406	unclassified	probably benign
R4299:Szt2	UTSW	4	118365406	unclassified	probably benign
R4432:Szt2	UTSW	4	118384231	missense	probably damaging	0.99
R4597:Szt2	UTSW	4	118372681	missense	unknown
R4657:Szt2	UTSW	4	118397669	missense	probably benign	0.06
R4663:Szt2	UTSW	4	118377684	unclassified	probably benign
R4670:Szt2	UTSW	4	118375829	unclassified	probably benign
R4704:Szt2	UTSW	4	118393829	missense	probably damaging	0.99
R4748:Szt2	UTSW	4	118389191	nonsense	probably null
R4786:Szt2	UTSW	4	118399062	missense	probably benign	0.20
R4809:Szt2	UTSW	4	118388985	missense	probably damaging	1.00
R4830:Szt2	UTSW	4	118369248	missense	unknown
R4944:Szt2	UTSW	4	118388669	missense	probably benign	0.03
R5077:Szt2	UTSW	4	118369616	critical splice donor site	probably null
R5121:Szt2	UTSW	4	118385444	missense	possibly damaging	0.92
R5140:Szt2	UTSW	4	118386981	missense	possibly damaging	0.46
R5169:Szt2	UTSW	4	118389830	missense	probably benign	0.26
R5198:Szt2	UTSW	4	118388322	missense	probably benign	0.03
R5433:Szt2	UTSW	4	118375466	unclassified	probably benign
R5625:Szt2	UTSW	4	118373217	missense	unknown
R5628:Szt2	UTSW	4	118373217	missense	unknown
R5630:Szt2	UTSW	4	118392905	missense	possibly damaging	0.83
R5808:Szt2	UTSW	4	118372613	missense	unknown
R5902:Szt2	UTSW	4	118391503	missense	probably benign	0.05
R6049:Szt2	UTSW	4	118402988	missense	probably damaging	0.99
R6066:Szt2	UTSW	4	118371974	missense	unknown
R6272:Szt2	UTSW	4	118374290	unclassified	probably benign
R6456:Szt2	UTSW	4	118376697	unclassified	probably benign
R6538:Szt2	UTSW	4	118390477	splice site	probably null
R6604:Szt2	UTSW	4	118385474	missense	probably benign	0.01
R6664:Szt2	UTSW	4	118391745	missense	probably damaging	1.00
R6834:Szt2	UTSW	4	118388325	missense	probably benign	0.01
R7109:Szt2	UTSW	4	118375479	missense	unknown
R7163:Szt2	UTSW	4	118405530	missense	possibly damaging	0.90
R7190:Szt2	UTSW	4	118389006	missense	probably damaging	0.98
R7289:Szt2	UTSW	4	118375878	missense	unknown
R7291:Szt2	UTSW	4	118391249	missense	probably damaging	0.98
R7383:Szt2	UTSW	4	118365214	nonsense	probably null
R7448:Szt2	UTSW	4	118363471	missense	unknown
R7637:Szt2	UTSW	4	118393828	missense	probably damaging	0.99
R7833:Szt2	UTSW	4	118366219	missense	unknown
R7896:Szt2	UTSW	4	118402913	missense	possibly damaging	0.62
R7923:Szt2	UTSW	4	118373840	missense	unknown
R8090:Szt2	UTSW	4	118387002	splice site	probably null
R8103:Szt2	UTSW	4	118387864	missense	possibly damaging	0.88
R8288:Szt2	UTSW	4	118389776	missense	probably damaging	0.96
R8309:Szt2	UTSW	4	118375482	frame shift	probably null
R8341:Szt2	UTSW	4	118392836	missense	possibly damaging	0.63
R8480:Szt2	UTSW	4	118386818	missense	probably benign	0.01
R8497:Szt2	UTSW	4	118388321	missense	possibly damaging	0.94
R8549:Szt2	UTSW	4	118372681	missense	unknown
R8768:Szt2	UTSW	4	118369416	missense	unknown
R8992:Szt2	UTSW	4	118382788	splice site	probably benign
R9001:Szt2	UTSW	4	118378332	missense	unknown
R9094:Szt2	UTSW	4	118385454	missense	possibly damaging	0.74
R9110:Szt2	UTSW	4	118385433	missense	possibly damaging	0.89
R9129:Szt2	UTSW	4	118364669	missense	unknown
R9184:Szt2	UTSW	4	118384529	missense	possibly damaging	0.92
R9186:Szt2	UTSW	4	118385091	missense	probably damaging	1.00
R9424:Szt2	UTSW	4	118390954	missense	probably damaging	1.00
R9598:Szt2	UTSW	4	118409161	critical splice donor site	probably null
X0023:Szt2	UTSW	4	118372404	missense	unknown
Z1176:Szt2	UTSW	4	118393976	missense	probably damaging	0.99
Z1177:Szt2	UTSW	4	118391214	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTCTGTACACAGTGAGGC -3'
(R):5'- CAATGGCTTTCCTCACAGGG -3'

Sequencing Primer
(F):5'- AGCTCCATGATGGCGTCG -3'
(R):5'- GGGTTGCCTGCATCACTCTAG -3'

Posted On

2014-08-25