Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Szt2'

693457

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R9129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118364669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3339 (V3339A)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006562] [ENSMUST00000075406] [ENSMUST00000106393] [ENSMUST00000194248]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006562

SMART Domains

Protein: ENSMUSP00000006562
Gene: ENSMUSG00000006395

Domain	Start	End	E-Value	Type
Pfam:AP_endonuc_2	24	221	4.2e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000075406
AA Change: V3339A

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: V3339A

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: ENSMUST00000106393

SMART Domains

Protein: ENSMUSP00000102001
Gene: ENSMUSG00000006395

Domain	Start	End	E-Value	Type
SCOP:d1k77a_	4	67	4e-10	SMART
PDB:1K77\|A	5	69	5e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000183402

Predicted Effect

probably benign
Transcript: ENSMUST00000194248

SMART Domains

Protein: ENSMUSP00000141952
Gene: ENSMUSG00000006395

Domain	Start	End	E-Value	Type
SCOP:d1k77a_	4	77	3e-10	SMART
PDB:1K77\|A	5	76	6e-8	PDB
low complexity region	246	260	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,260	S1238P	probably damaging	Het
Akap9	T	C	5: 4,069,089	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,421,216	L701P		Het
Aph1b	A	C	9: 66,779,313	I225S	probably benign	Het
Asic4	A	T	1: 75,469,825	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,532,578	E187G	probably damaging	Het
Atp9a	A	G	2: 168,675,285	M376T	probably benign	Het
BC049730	A	G	7: 24,713,745	D163G	probably benign	Het
Bod1l	G	T	5: 41,818,877	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,336,454		probably null	Het
Catsper1	C	A	19: 5,340,374		probably benign	Het
Cd248	T	C	19: 5,070,112	S663P	probably benign	Het
Crispld2	A	T	8: 120,010,749	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,896,315	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,314,711	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,681,764		probably benign	Het
Dsp	T	A	13: 38,193,150	V1637D	probably benign	Het
Elovl1	A	T	4: 118,431,959	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,410,120	K483E	probably benign	Het
Fzd2	T	C	11: 102,605,639	F303S	probably benign	Het
Gm14548	C	A	7: 3,895,501		probably null	Het
Gm9944	A	T	4: 144,453,193	V42D	unknown	Het
Grik5	G	A	7: 25,068,004		probably benign	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hinfp	C	T	9: 44,297,765	R352H	probably damaging	Het
Hrnr	A	G	3: 93,323,970	H505R	unknown	Het
Hsfy2	C	T	1: 56,636,593	D262N	probably benign	Het
Hspa4	G	A	11: 53,283,636	Q186*	probably null	Het
Ipo8	T	C	6: 148,798,627	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,487,748	R54*	probably null	Het
Lama4	T	A	10: 39,056,891	Y588N	probably benign	Het
Lekr1	T	A	3: 65,684,005	Y54*	probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lzts3	A	T	2: 130,634,945	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812	V628E	probably benign	Het
Mgat5b	A	C	11: 116,968,522		probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,162,593	S443L	probably benign	Het
Mtf1	G	A	4: 124,805,120		probably benign	Het
Myom2	T	C	8: 15,104,068	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,378,003		probably null	Het
Nog	G	C	11: 89,301,776	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,128,270	T795A	probably benign	Het
Olfr1032	A	T	2: 86,008,012	M79L		Het
Olfr1141	A	T	2: 87,753,704	F96L	probably benign	Het
Olfr1251	A	G	2: 89,667,586	F100S	probably damaging	Het
Olfr681	G	A	7: 105,122,016	M186I	probably benign	Het
Prl6a1	A	T	13: 27,318,081	I144L		Het
Rab11fip5	A	G	6: 85,340,910	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 32,978,156		probably benign	Het
Shisa6	A	G	11: 66,220,027	M296T	probably benign	Het
Slc18a1	T	A	8: 69,038,881	T494S	probably benign	Het
Slc22a29	T	G	19: 8,169,305	I378L	probably benign	Het
Slc23a2	C	T	2: 132,078,412		probably null	Het
Slc2a7	G	T	4: 150,158,544	R274L	probably benign	Het
Spta1	A	G	1: 174,231,345	T1949A	possibly damaging	Het
Tcp10a	G	A	17: 7,326,536	D87N	probably benign	Het
Tgm5	T	G	2: 121,046,789	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,314,840	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,384,349	M50L	probably benign	Het
Ush1c	A	G	7: 46,205,205	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,114,706	T9S	probably benign	Het
Vmn1r26	T	C	6: 58,008,388	Y272C		Het
Vmn1r75	G	T	7: 11,880,586	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,459,944	R769*	probably null	Het
Vps13b	C	A	15: 35,448,647	A589E	probably damaging	Het
Vps13d	G	A	4: 145,171,679	R304W		Het
Vps41	A	G	13: 18,827,605	E294G	probably benign	Het
Xpo7	T	C	14: 70,671,673	T802A	probably benign	Het
Ylpm1	T	A	12: 85,057,278	D2022E		Het
Zfp433	T	A	10: 81,719,890	C75*	probably null	Het
Zyg11a	A	T	4: 108,181,812	S737T	probably benign	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
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
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'- CCAAAGGTTTCAATGGCAGTC -3'
(R):5'- TCCATTGCGGACATTGACCC -3'

Sequencing Primer
(F):5'- TGGTCTAACTCCAGCAAGGC -3'
(R):5'- ATTGACCCCCAGCTGGTAAGAG -3'

Posted On

2022-01-20