Mutagenetix > Incidental Mutation

Incidental Mutation 'R9598:Szt2'

723380

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: 0.591) question?

Stock #

R9598 (G1)

Quality Score

107.008

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 118409161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019229] [ENSMUST00000073881] [ENSMUST00000075406] [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 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

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

probably benign
Transcript: ENSMUST00000144577

SMART Domains

Protein: ENSMUSP00000120158
Gene: ENSMUSG00000006392

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
4921539E11Rik	T	C	4: 103,231,407	I302V	probably benign	Het
Ackr2	A	C	9: 121,908,591	T11P	possibly damaging	Het
Ahnak	A	G	19: 9,003,785	N811S	probably benign	Het
Atm	T	C	9: 53,520,081	I326V	probably benign	Het
Cdh23	A	T	10: 60,378,795	F1480L	probably benign	Het
Celsr2	T	C	3: 108,415,262	E78G	possibly damaging	Het
Ces1f	A	T	8: 93,256,866	N504K	probably benign	Het
Chrna4	G	A	2: 181,037,471	S61L	probably damaging	Het
Clcn3	G	T	8: 60,913,027	T864K	unknown	Het
Cym	A	C	3: 107,219,625	D71E	possibly damaging	Het
Ddx19b	T	C	8: 111,021,041	D87G	probably benign	Het
Dnah7b	T	C	1: 46,253,461	V3002A	possibly damaging	Het
Dnmt3a	G	A	12: 3,896,997	G408S	probably benign	Het
Dock10	A	T	1: 80,648,222	D66E	probably benign	Het
Dsg3	A	G	18: 20,539,732	D820G	probably damaging	Het
Dst	G	A	1: 34,113,933	V92I	possibly damaging	Het
Dusp16	T	A	6: 134,718,222	T549S	probably benign	Het
Ephx1	T	A	1: 180,999,816	K91*	probably null	Het
Flii	A	G	11: 60,727,165	F9L	probably benign	Het
Fmn2	T	C	1: 174,608,742	S760P	unknown	Het
Fmnl3	A	T	15: 99,325,329	V378E	probably damaging	Het
Gbp4	A	G	5: 105,136,874	S50P	probably damaging	Het
Glra3	G	T	8: 55,940,683		probably benign	Het
Gm10188	T	C	1: 132,229,295	D111G	unknown	Het
Gnptab	A	T	10: 88,412,014	E101V	probably damaging	Het
Hacl1	C	A	14: 31,610,240	M525I	probably benign	Het
Hid1	T	A	11: 115,348,912	T731S	probably damaging	Het
Ifi203	T	C	1: 173,923,956	Y847C	probably damaging	Het
Igfbpl1	C	A	4: 45,815,472	L221F	probably null	Het
Ighv1-12	A	G	12: 114,616,137	Y22H	probably benign	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
L3mbtl4	T	A	17: 68,559,772	H335Q	probably benign	Het
Mapre2	A	G	18: 23,883,650	D287G	probably benign	Het
Mfsd14b	G	A	13: 65,066,708	R477W	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Msh4	A	T	3: 153,901,511	S131T	possibly damaging	Het
Nat8f2	A	T	6: 85,867,866	D171E	probably benign	Het
Ndufb5	G	T	3: 32,741,732	L24F	probably benign	Het
Nkain2	T	C	10: 32,402,295	I45V	probably damaging	Het
Nlrp9b	T	G	7: 20,019,377	M69R	probably benign	Het
Olfr1167	A	C	2: 88,149,591	C143G	probably damaging	Het
Olfr1176	A	T	2: 88,340,477	K304I	possibly damaging	Het
Olfr1281	A	T	2: 111,329,288	R290*	probably null	Het
Oxct2b	T	A	4: 123,116,620	V111E	possibly damaging	Het
Parva	T	A	7: 112,588,546	V350D	probably damaging	Het
Pcdhb7	A	G	18: 37,342,381	D190G	probably damaging	Het
Pik3c2b	T	C	1: 133,084,987		probably null	Het
Plcz1	T	A	6: 140,039,758	Q19L	possibly damaging	Het
Prag1	A	G	8: 36,103,915	N551D	probably benign	Het
Rb1cc1	G	A	1: 6,239,965	V196I	probably damaging	Het
Rnf113a2	T	C	12: 84,417,496	V54A	probably benign	Het
Sec14l1	G	A	11: 117,153,276	E537K	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Shtn1	T	A	19: 59,038,303	I119F	probably damaging	Het
Tasp1	T	C	2: 139,977,647	D212G	probably benign	Het
Tmpo	A	G	10: 91,158,746		probably null	Het
Usp17lb	T	C	7: 104,840,511	K403R	probably benign	Het
Vcpip1	A	G	1: 9,745,794	V788A	probably benign	Het
Wdr25	C	A	12: 108,898,687	H253N	probably benign	Het
Wisp1	T	A	15: 66,912,915	C146S	possibly damaging	Het
Wwc2	G	A	8: 47,875,325	S367L	probably damaging	Het
Zfr	A	G	15: 12,162,206	E814G	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
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
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'- GCGTGGCACAATGAAAATCC -3'
(R):5'- TATAAGGCCCAACCCGCTTC -3'

Sequencing Primer
(F):5'- GCACAATGAAAATCCCAACTAATAAC -3'
(R):5'- CGGTTTCTCGCACGGCTTG -3'

Posted On

2022-08-09