Mutagenetix > Incidental Mutation

Incidental Mutation 'R1222:Szt2'

152747

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

039291-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R1222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118405459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 40 (H40Q)

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

possibly damaging
Transcript: ENSMUST00000075406
AA Change: H40Q

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: H40Q

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

96% (54/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,145,064 (GRCm38)		probably benign	Het
Abl1	T	C	2: 31,800,994 (GRCm38)	S842P	probably benign	Het
Agrn	C	A	4: 156,177,385 (GRCm38)	V483L	probably damaging	Het
Ankrd13a	T	A	5: 114,800,763 (GRCm38)	C365*	probably null	Het
Ap2b1	T	C	11: 83,346,738 (GRCm38)	S543P	probably benign	Het
Atic	C	T	1: 71,559,279 (GRCm38)	T67I	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm38)		probably null	Het
Cux1	C	T	5: 136,275,149 (GRCm38)	R1391Q	probably benign	Het
Cyp2a4	T	C	7: 26,308,588 (GRCm38)	V140A	possibly damaging	Het
Dlgap3	A	T	4: 127,194,613 (GRCm38)	M1L	probably null	Het
Dnah3	T	C	7: 120,090,676 (GRCm38)	D2G	probably benign	Het
Erbb3	A	C	10: 128,571,665 (GRCm38)	V938G	probably damaging	Het
Fam13a	C	T	6: 58,935,722 (GRCm38)		probably benign	Het
Gata2	G	A	6: 88,200,341 (GRCm38)	V118I	probably benign	Het
Gm2663	T	C	6: 40,996,041 (GRCm38)	I211V	probably benign	Het
Gm5096	A	G	18: 87,757,334 (GRCm38)	K327R	probably damaging	Het
Gm8298	T	A	3: 59,877,261 (GRCm38)	L385*	probably null	Het
Izumo3	T	A	4: 92,145,047 (GRCm38)	N104I	probably damaging	Het
Kifc1	G	A	17: 33,884,711 (GRCm38)	R195C	probably benign	Het
Mctp2	T	A	7: 72,259,139 (GRCm38)	H142L	probably benign	Het
Mmp10	T	C	9: 7,505,681 (GRCm38)		probably benign	Het
Mroh8	G	A	2: 157,241,854 (GRCm38)		probably benign	Het
Mylk	T	C	16: 34,860,652 (GRCm38)	V94A	probably benign	Het
Nol6	A	T	4: 41,120,760 (GRCm38)	N396K	probably benign	Het
Nr4a2	A	T	2: 57,108,324 (GRCm38)	N543K	probably damaging	Het
Nynrin	T	C	14: 55,863,541 (GRCm38)	S263P	probably benign	Het
Olfr1115	G	T	2: 87,252,422 (GRCm38)	G162C	probably benign	Het
Olfr395	A	T	11: 73,907,414 (GRCm38)	L26H	probably damaging	Het
Olfr493	T	A	7: 108,346,106 (GRCm38)	I292F	probably damaging	Het
Olfr77	G	A	9: 19,921,048 (GRCm38)	V280I	possibly damaging	Het
Pkhd1	T	A	1: 20,567,456 (GRCm38)	R368S	probably benign	Het
Plekhg4	G	A	8: 105,379,110 (GRCm38)	A736T	probably benign	Het
Plxna2	A	G	1: 194,800,649 (GRCm38)	D1550G	probably damaging	Het
Qrfpr	C	A	3: 36,180,095 (GRCm38)	G366W	probably damaging	Het
Qser1	C	A	2: 104,777,431 (GRCm38)	A1471S	probably damaging	Het
Rars	A	T	11: 35,809,740 (GRCm38)	Y505N	probably damaging	Het
Reln	T	A	5: 21,986,955 (GRCm38)	T1496S	probably null	Het
Rrs1	T	C	1: 9,545,855 (GRCm38)	L111P	probably benign	Het
Selplg	C	T	5: 113,819,373 (GRCm38)	V291M	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,951 (GRCm38)	T50S	possibly damaging	Het
Slc4a5	A	G	6: 83,280,132 (GRCm38)	K640E	probably damaging	Het
Taar4	C	T	10: 23,961,332 (GRCm38)	T280I	probably benign	Het
Tdo2	A	G	3: 81,961,468 (GRCm38)		probably null	Het
Tpp1	T	C	7: 105,746,741 (GRCm38)	N527S	probably benign	Het
Trim43c	A	T	9: 88,843,078 (GRCm38)	T218S	possibly damaging	Het
Trim45	G	T	3: 100,927,298 (GRCm38)	M432I	probably benign	Het
Ubr4	T	C	4: 139,388,471 (GRCm38)		probably null	Het
Vat1l	T	C	8: 114,282,361 (GRCm38)		probably benign	Het
Xpo7	A	T	14: 70,667,084 (GRCm38)	H1037Q	possibly damaging	Het
Zmiz1	T	C	14: 25,658,096 (GRCm38)		probably benign	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
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
R5169:Szt2	UTSW	4	118,389,830 (GRCm38)	missense	probably benign	0.26
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'- GCTTCGTTTTCAATCAACGAACCACAC -3'
(R):5'- AGGGTAGACTTCATCTCTGCTGTCTTC -3'

Sequencing Primer
(F):5'- ctacttccacacacctaccc -3'
(R):5'- CCCCTCACTCTGGGTTCC -3'

Posted On

2014-01-29