Mutagenetix > Incidental Mutation

Incidental Mutation 'R1772:Szt2'

196677

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

039803-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R1772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118405517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 21 (K21M)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019229] [ENSMUST00000073881] [ENSMUST00000075406] [ENSMUST00000084319] [ENSMUST00000106384] [ENSMUST00000126089] [ENSMUST00000144577]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019229

SMART Domains

Protein: ENSMUSP00000019229
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	1	265	1.2e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073881

SMART Domains

Protein: ENSMUSP00000073544
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	2	129	1.4e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000075406
AA Change: K21M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: K21M

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 benign
Transcript: ENSMUST00000084319

SMART Domains

Protein: ENSMUSP00000081346
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	2	179	1.1e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106384

SMART Domains

Protein: ENSMUSP00000101992
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	1	234	3.3e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130421

Predicted Effect

probably benign
Transcript: ENSMUST00000144577

SMART Domains

Protein: ENSMUSP00000120158
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	2	75	3.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152633

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.5%

Validation Efficiency

97% (107/110)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,959,432	S1937P	probably damaging	Het
Adgb	G	T	10: 10,382,721		probably benign	Het
Aldh1a7	T	C	19: 20,716,019	K179E	probably damaging	Het
Angptl7	G	A	4: 148,497,426	R168C	probably damaging	Het
Atp8b1	T	A	18: 64,573,492	I208F	possibly damaging	Het
Bco1	A	G	8: 117,130,608	Y438C	probably benign	Het
Btrc	A	C	19: 45,512,661	K218Q	probably damaging	Het
Cct8l1	G	A	5: 25,517,699	V471M	probably damaging	Het
Cd180	C	T	13: 102,706,242	L599F	probably benign	Het
Cd300e	T	C	11: 115,054,518	N150S	probably benign	Het
Clcn1	C	A	6: 42,294,145	T281K	probably damaging	Het
Cnnm3	T	C	1: 36,518,957	S417P	probably damaging	Het
Cspg4	T	A	9: 56,897,492	S1862R	probably benign	Het
Cspg5	A	T	9: 110,262,138	N432Y	probably damaging	Het
Cyp2r1	T	A	7: 114,553,216	I169F	probably damaging	Het
D130043K22Rik	T	A	13: 24,875,999	S618T	probably damaging	Het
Diaph3	G	A	14: 86,965,549	P635L	probably damaging	Het
Dlg1	A	G	16: 31,665,667	I38V	possibly damaging	Het
Dlk1	T	G	12: 109,459,759	V186G	probably damaging	Het
Dmxl2	T	C	9: 54,423,224		probably benign	Het
Dnajc17	G	A	2: 119,183,683	R132*	probably null	Het
Dock9	G	T	14: 121,609,798	N1042K	probably benign	Het
Dok7	A	T	5: 35,086,650	Q511L	probably damaging	Het
Espnl	G	A	1: 91,344,603	E562K	possibly damaging	Het
Evi5	G	A	5: 107,795,841	T562I	probably benign	Het
Exd2	T	A	12: 80,489,479	D294E	probably benign	Het
Fbn1	A	T	2: 125,403,228	D246E	possibly damaging	Het
Fbxw16	A	T	9: 109,439,582	W247R	possibly damaging	Het
Fcer1a	A	G	1: 173,225,437	I64T	probably benign	Het
Fcgbp	C	A	7: 28,105,175	Q1903K	possibly damaging	Het
Fmn1	A	G	2: 113,365,355	S467G	unknown	Het
Fndc7	T	A	3: 108,870,534	T369S	probably damaging	Het
Fnta	T	C	8: 26,000,966		probably benign	Het
Gak	A	T	5: 108,606,892	H289Q	probably damaging	Het
Gas2l3	A	G	10: 89,417,014		probably benign	Het
Gbp8	T	C	5: 105,016,121	N437S	probably benign	Het
Gk5	G	A	9: 96,150,797		probably null	Het
Gm21818	T	A	13: 120,173,189	D2E	probably benign	Het
Hid1	A	T	11: 115,348,473	V788E	probably damaging	Het
Hmcn1	T	C	1: 150,563,568	T5505A	probably damaging	Het
Igf1r	T	A	7: 68,195,074	M865K	probably benign	Het
Katnal2	G	A	18: 77,002,537	T258I	probably damaging	Het
Kdm3b	A	T	18: 34,803,504	I280L	probably benign	Het
Kif24	A	G	4: 41,409,787	V382A	probably damaging	Het
Kif2a	A	T	13: 106,978,132		probably benign	Het
Klhl10	A	G	11: 100,442,196	I56V	probably benign	Het
Klk6	C	T	7: 43,829,271	Q201*	probably null	Het
Klra3	A	T	6: 130,323,708	S233T	probably benign	Het
Krt9	A	T	11: 100,191,305	M223K	probably damaging	Het
Lama4	G	A	10: 39,060,224	E632K	probably benign	Het
Lamb1	T	C	12: 31,278,525	Y163H	probably damaging	Het
Lipo1	A	G	19: 33,787,421	I11T	probably benign	Het
Lix1l	T	A	3: 96,623,891	H333Q	possibly damaging	Het
Mal2	T	A	15: 54,588,387	M68K	probably damaging	Het
Map2k2	T	C	10: 81,121,100	I104T	probably damaging	Het
Matn2	T	C	15: 34,428,785	V765A	probably damaging	Het
Mptx2	T	A	1: 173,274,473	K216N	probably damaging	Het
Mup5	C	T	4: 61,832,341		probably null	Het
Mycbp2	A	G	14: 103,182,419	Y2494H	probably damaging	Het
Myh3	G	A	11: 67,099,394	D1622N	probably benign	Het
Myo6	T	C	9: 80,270,049	I609T	possibly damaging	Het
Ndst1	G	A	18: 60,702,837	T458I	probably damaging	Het
Neb	A	T	2: 52,235,677	Y3622N	probably damaging	Het
Ntm	A	G	9: 29,179,100	Y108H	probably benign	Het
Olfr273	T	G	4: 52,855,730	K261T	probably benign	Het
Olfr43	T	C	11: 74,206,572	I215V	probably benign	Het
Olfr596	T	C	7: 103,310,242	Y174H	possibly damaging	Het
Pappa2	T	A	1: 158,814,368	I1373F	possibly damaging	Het
Pear1	A	G	3: 87,754,492		probably benign	Het
Phc3	C	T	3: 30,961,820	A81T	probably damaging	Het
Pmepa1	A	G	2: 173,234,360	S105P	probably damaging	Het
Ppp6r1	T	C	7: 4,642,031	I248V	probably benign	Het
Prdm4	G	A	10: 85,893,392	T717I	probably damaging	Het
Prom1	T	C	5: 44,011,224	T669A	probably benign	Het
Ptpn5	T	A	7: 47,090,768	I96F	probably benign	Het
Ptpro	T	C	6: 137,430,743	L922P	probably damaging	Het
Reck	A	T	4: 43,890,982	H40L	probably benign	Het
Rreb1	T	A	13: 37,930,923	C753S	probably benign	Het
Sacs	T	C	14: 61,210,897	L3464P	probably damaging	Het
Samsn1	A	T	16: 75,870,775	D304E	probably benign	Het
Scgb2b3	T	C	7: 31,360,196	N51S	possibly damaging	Het
Shroom3	T	C	5: 92,940,656	S341P	probably damaging	Het
Siglece	T	C	7: 43,659,293	D212G	probably damaging	Het
Sirpa	A	G	2: 129,616,456	T331A	probably damaging	Het
Spata21	T	C	4: 141,111,296	S553P	possibly damaging	Het
Speer4b	T	A	5: 27,500,238		probably benign	Het
Srgap2	T	C	1: 131,319,638	D552G	probably damaging	Het
Stab2	A	G	10: 86,954,234	I556T	probably benign	Het
Strip1	C	T	3: 107,626,731		probably null	Het
Stxbp6	T	A	12: 44,902,870	D92V	probably damaging	Het
Styx	A	G	14: 45,356,758	K46E	probably damaging	Het
Supt20	T	A	3: 54,710,420	V314E	probably damaging	Het
Syne2	T	A	12: 75,938,729	D1650E	probably benign	Het
Tbx4	A	T	11: 85,911,207	H222L	probably damaging	Het
Tmx3	A	T	18: 90,532,997	I254L	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpv2	A	T	11: 62,594,226		probably benign	Het
Ubap2	A	G	4: 41,202,380	S683P	probably benign	Het
Ube2d3	C	T	3: 135,465,211	R139W	probably benign	Het
Ubox5	G	T	2: 130,591,874	Q518K	probably benign	Het
Usp42	T	C	5: 143,717,102	N588S	probably damaging	Het
Vars2	G	A	17: 35,660,084	T618M	probably damaging	Het
Wfdc17	A	T	11: 83,704,904	N65Y	probably damaging	Het
Zbtb38	G	A	9: 96,688,041	P330L	probably damaging	Het
Zfp385a	C	T	15: 103,315,881		probably null	Het
Zfp637	T	A	6: 117,845,412	L167H	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
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
R1998:Szt2	UTSW	4	118375727	critical splice donor site	probably null
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'- TATAAGAGAGGTCCTACTGGGCCAGG -3'
(R):5'- GAAACGTGCTGCAAGATTGTAAGTTCC -3'

Sequencing Primer
(F):5'- GGCCAGGCCCTCACTTC -3'
(R):5'- agttcagttcccagcaacc -3'

Posted On

2014-05-23