Mutagenetix > Incidental Mutation

Incidental Mutation 'R4039:Szt2'

313837

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

SZT2 subunit of KICSTOR complex

Synonyms

seaizure threshold 2

MMRRC Submission

041614-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.649) question?

Stock #

R4039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118219940-118266470 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 118222149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141952 (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: E3285G

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: E3285G

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

noncoding transcript
Transcript: ENSMUST00000130058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179719

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

Meta Mutation Damage Score

0.1405

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

98% (48/49)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	T	15: 59,888,215 (GRCm39)	L75Q	possibly damaging	Het
Cep290	T	C	10: 100,348,263 (GRCm39)		probably null	Het
Col11a2	A	G	17: 34,264,748 (GRCm39)	T268A	probably benign	Het
Crnkl1	T	A	2: 145,774,247 (GRCm39)	D72V	possibly damaging	Het
Csn2	C	T	5: 87,845,935 (GRCm39)	M1I	probably null	Het
Dhcr24	T	C	4: 106,431,075 (GRCm39)	F255L	probably benign	Het
Epn2	A	G	11: 61,437,348 (GRCm39)	Y75H	probably damaging	Het
Galnt3	A	T	2: 65,915,671 (GRCm39)	H563Q	probably damaging	Het
Galnt9	T	C	5: 110,762,074 (GRCm39)	V37A	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gorab	A	T	1: 163,224,635 (GRCm39)	D55E	possibly damaging	Het
Herc2	G	A	7: 55,806,159 (GRCm39)	R2318Q	probably damaging	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Hspb8	A	G	5: 116,547,403 (GRCm39)	V193A	probably benign	Het
Ly75	A	G	2: 60,183,339 (GRCm39)	L481P	probably damaging	Het
Lyzl1	T	C	18: 4,169,140 (GRCm39)	L48P	probably damaging	Het
Mettl27	C	T	5: 134,969,463 (GRCm39)	Q212*	probably null	Het
Mmachc	T	A	4: 116,563,215 (GRCm39)	T47S	probably damaging	Het
Ncam2	C	T	16: 81,287,211 (GRCm39)	S375L	probably benign	Het
Ogfrl1	T	C	1: 23,418,045 (GRCm39)		probably benign	Het
Parp9	T	C	16: 35,780,417 (GRCm39)	L461P	probably damaging	Het
Pcsk7	A	G	9: 45,839,305 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,101,957 (GRCm39)	H342Q	probably benign	Het
Prdm13	T	G	4: 21,685,774 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,908,444 (GRCm39)	N144D	probably damaging	Het
Ptpn12	A	T	5: 21,207,508 (GRCm39)	Y283*	probably null	Het
Rab12	T	C	17: 66,807,396 (GRCm39)	Y111C	possibly damaging	Het
Ralgapa1	T	C	12: 55,842,486 (GRCm39)	N61S	probably damaging	Het
Rims1	T	C	1: 22,514,793 (GRCm39)	S537G	probably damaging	Het
Sash1	G	T	10: 8,605,391 (GRCm39)	P1000T	probably damaging	Het
Skint5	G	T	4: 113,743,011 (GRCm39)	T352K	unknown	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Sycp2	C	A	2: 178,022,720 (GRCm39)	M470I	possibly damaging	Het
Tbc1d1	A	G	5: 64,473,771 (GRCm39)	T765A	probably damaging	Het
Tgfbr2	T	C	9: 116,004,105 (GRCm39)	M1V	probably null	Het
Tnfrsf11a	A	G	1: 105,755,464 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,400 (GRCm39)	L111P	probably damaging	Het
Ttbk2	A	T	2: 120,576,276 (GRCm39)	S900R	probably benign	Het
Unc79	G	A	12: 103,041,208 (GRCm39)	C747Y	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,971 (GRCm39)	V26A	possibly damaging	Het
Vmn2r115	A	T	17: 23,564,077 (GRCm39)	Y83F	probably benign	Het
Zfp536	A	T	7: 37,268,975 (GRCm39)	L147Q	probably damaging	Het
Zfp931	T	A	2: 177,709,777 (GRCm39)	Q203L	possibly damaging	Het
Zswim2	G	A	2: 83,746,338 (GRCm39)	H367Y	probably damaging	Het

Other mutations in Szt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Szt2	APN	4	118,241,447 (GRCm39)	splice site	probably benign
IGL01082:Szt2	APN	4	118,254,821 (GRCm39)	missense	probably damaging	1.00
IGL01348:Szt2	APN	4	118,250,821 (GRCm39)	splice site	probably benign
IGL01869:Szt2	APN	4	118,256,268 (GRCm39)	missense	possibly damaging	0.87
IGL01918:Szt2	APN	4	118,241,450 (GRCm39)	splice site	probably benign
IGL01951:Szt2	APN	4	118,233,690 (GRCm39)	unclassified	probably benign
IGL01971:Szt2	APN	4	118,244,152 (GRCm39)	missense	probably benign	0.01
IGL02047:Szt2	APN	4	118,233,834 (GRCm39)	unclassified	probably benign
IGL02092:Szt2	APN	4	118,220,529 (GRCm39)	unclassified	probably benign
IGL02120:Szt2	APN	4	118,245,761 (GRCm39)	missense	probably benign	0.01
IGL02210:Szt2	APN	4	118,247,020 (GRCm39)	missense	possibly damaging	0.95
IGL02435:Szt2	APN	4	118,248,020 (GRCm39)	missense	probably damaging	1.00
IGL02622:Szt2	APN	4	118,250,087 (GRCm39)	missense	probably damaging	0.96
IGL02666:Szt2	APN	4	118,231,252 (GRCm39)	missense	probably damaging	0.99
IGL02712:Szt2	APN	4	118,242,030 (GRCm39)	missense	probably benign	0.19
IGL02983:Szt2	APN	4	118,222,976 (GRCm39)	unclassified	probably benign
IGL03026:Szt2	APN	4	118,249,046 (GRCm39)	missense	probably benign	0.40
IGL03178:Szt2	APN	4	118,239,886 (GRCm39)	missense	unknown
IGL03233:Szt2	APN	4	118,229,726 (GRCm39)	missense	unknown
IGL03377:Szt2	APN	4	118,259,594 (GRCm39)	splice site	probably benign
IGL03387:Szt2	APN	4	118,221,922 (GRCm39)	unclassified	probably benign
PIT4687001:Szt2	UTSW	4	118,255,398 (GRCm39)	missense	possibly damaging	0.84
R0026:Szt2	UTSW	4	118,241,969 (GRCm39)	missense	possibly damaging	0.92
R0352:Szt2	UTSW	4	118,239,790 (GRCm39)	missense	unknown
R0396:Szt2	UTSW	4	118,233,544 (GRCm39)	unclassified	probably benign
R0504:Szt2	UTSW	4	118,230,149 (GRCm39)	splice site	probably null
R1033:Szt2	UTSW	4	118,244,303 (GRCm39)	missense	probably damaging	0.98
R1222:Szt2	UTSW	4	118,262,656 (GRCm39)	missense	possibly damaging	0.77
R1418:Szt2	UTSW	4	118,244,976 (GRCm39)	missense	probably benign	0.03
R1462:Szt2	UTSW	4	118,231,164 (GRCm39)	missense	unknown
R1462:Szt2	UTSW	4	118,231,164 (GRCm39)	missense	unknown
R1763:Szt2	UTSW	4	118,229,565 (GRCm39)	missense	unknown
R1772:Szt2	UTSW	4	118,262,714 (GRCm39)	missense	probably damaging	1.00
R1840:Szt2	UTSW	4	118,222,854 (GRCm39)	unclassified	probably benign
R1942:Szt2	UTSW	4	118,249,817 (GRCm39)	missense	probably benign	0.17
R1965:Szt2	UTSW	4	118,241,162 (GRCm39)	missense	probably benign	0.36
R1998:Szt2	UTSW	4	118,232,924 (GRCm39)	critical splice donor site	probably null
R2009:Szt2	UTSW	4	118,235,261 (GRCm39)	critical splice donor site	probably null
R2012:Szt2	UTSW	4	118,220,862 (GRCm39)	unclassified	probably benign
R2044:Szt2	UTSW	4	118,233,645 (GRCm39)	nonsense	probably null
R2066:Szt2	UTSW	4	118,231,177 (GRCm39)	missense	unknown
R2345:Szt2	UTSW	4	118,238,594 (GRCm39)	missense	unknown
R2857:Szt2	UTSW	4	118,226,599 (GRCm39)	missense	probably damaging	1.00
R3156:Szt2	UTSW	4	118,260,016 (GRCm39)	critical splice donor site	probably null
R3236:Szt2	UTSW	4	118,240,231 (GRCm39)	splice site	probably null
R3237:Szt2	UTSW	4	118,240,231 (GRCm39)	splice site	probably null
R3405:Szt2	UTSW	4	118,251,217 (GRCm39)	missense	probably benign	0.02
R3795:Szt2	UTSW	4	118,248,927 (GRCm39)	missense	probably damaging	1.00
R3878:Szt2	UTSW	4	118,247,782 (GRCm39)	missense	probably damaging	1.00
R3906:Szt2	UTSW	4	118,235,466 (GRCm39)	unclassified	probably benign
R4012:Szt2	UTSW	4	118,241,097 (GRCm39)	missense	probably benign	0.02
R4081:Szt2	UTSW	4	118,230,764 (GRCm39)	splice site	probably benign
R4298:Szt2	UTSW	4	118,222,603 (GRCm39)	unclassified	probably benign
R4299:Szt2	UTSW	4	118,222,603 (GRCm39)	unclassified	probably benign
R4432:Szt2	UTSW	4	118,241,428 (GRCm39)	missense	probably damaging	0.99
R4597:Szt2	UTSW	4	118,229,878 (GRCm39)	missense	unknown
R4657:Szt2	UTSW	4	118,254,866 (GRCm39)	missense	probably benign	0.06
R4663:Szt2	UTSW	4	118,234,881 (GRCm39)	unclassified	probably benign
R4670:Szt2	UTSW	4	118,233,026 (GRCm39)	unclassified	probably benign
R4704:Szt2	UTSW	4	118,251,026 (GRCm39)	missense	probably damaging	0.99
R4748:Szt2	UTSW	4	118,246,388 (GRCm39)	nonsense	probably null
R4786:Szt2	UTSW	4	118,256,259 (GRCm39)	missense	probably benign	0.20
R4809:Szt2	UTSW	4	118,246,182 (GRCm39)	missense	probably damaging	1.00
R4830:Szt2	UTSW	4	118,226,445 (GRCm39)	missense	unknown
R4944:Szt2	UTSW	4	118,245,866 (GRCm39)	missense	probably benign	0.03
R5077:Szt2	UTSW	4	118,226,813 (GRCm39)	critical splice donor site	probably null
R5121:Szt2	UTSW	4	118,242,641 (GRCm39)	missense	possibly damaging	0.92
R5140:Szt2	UTSW	4	118,244,178 (GRCm39)	missense	possibly damaging	0.46
R5169:Szt2	UTSW	4	118,247,027 (GRCm39)	missense	probably benign	0.26
R5198:Szt2	UTSW	4	118,245,519 (GRCm39)	missense	probably benign	0.03
R5433:Szt2	UTSW	4	118,232,663 (GRCm39)	unclassified	probably benign
R5625:Szt2	UTSW	4	118,230,414 (GRCm39)	missense	unknown
R5628:Szt2	UTSW	4	118,230,414 (GRCm39)	missense	unknown
R5630:Szt2	UTSW	4	118,250,102 (GRCm39)	missense	possibly damaging	0.83
R5808:Szt2	UTSW	4	118,229,810 (GRCm39)	missense	unknown
R5902:Szt2	UTSW	4	118,248,700 (GRCm39)	missense	probably benign	0.05
R6049:Szt2	UTSW	4	118,260,185 (GRCm39)	missense	probably damaging	0.99
R6066:Szt2	UTSW	4	118,229,171 (GRCm39)	missense	unknown
R6272:Szt2	UTSW	4	118,231,487 (GRCm39)	unclassified	probably benign
R6456:Szt2	UTSW	4	118,233,894 (GRCm39)	unclassified	probably benign
R6538:Szt2	UTSW	4	118,247,674 (GRCm39)	splice site	probably null
R6604:Szt2	UTSW	4	118,242,671 (GRCm39)	missense	probably benign	0.01
R6664:Szt2	UTSW	4	118,248,942 (GRCm39)	missense	probably damaging	1.00
R6834:Szt2	UTSW	4	118,245,522 (GRCm39)	missense	probably benign	0.01
R7109:Szt2	UTSW	4	118,232,676 (GRCm39)	missense	unknown
R7163:Szt2	UTSW	4	118,262,727 (GRCm39)	missense	possibly damaging	0.90
R7190:Szt2	UTSW	4	118,246,203 (GRCm39)	missense	probably damaging	0.98
R7289:Szt2	UTSW	4	118,233,075 (GRCm39)	missense	unknown
R7291:Szt2	UTSW	4	118,248,446 (GRCm39)	missense	probably damaging	0.98
R7383:Szt2	UTSW	4	118,222,411 (GRCm39)	nonsense	probably null
R7448:Szt2	UTSW	4	118,220,668 (GRCm39)	missense	unknown
R7637:Szt2	UTSW	4	118,251,025 (GRCm39)	missense	probably damaging	0.99
R7833:Szt2	UTSW	4	118,223,416 (GRCm39)	missense	unknown
R7896:Szt2	UTSW	4	118,260,110 (GRCm39)	missense	possibly damaging	0.62
R7923:Szt2	UTSW	4	118,231,037 (GRCm39)	missense	unknown
R8090:Szt2	UTSW	4	118,244,199 (GRCm39)	splice site	probably null
R8103:Szt2	UTSW	4	118,245,061 (GRCm39)	missense	possibly damaging	0.88
R8288:Szt2	UTSW	4	118,246,973 (GRCm39)	missense	probably damaging	0.96
R8309:Szt2	UTSW	4	118,232,679 (GRCm39)	frame shift	probably null
R8341:Szt2	UTSW	4	118,250,033 (GRCm39)	missense	possibly damaging	0.63
R8480:Szt2	UTSW	4	118,244,015 (GRCm39)	missense	probably benign	0.01
R8497:Szt2	UTSW	4	118,245,518 (GRCm39)	missense	possibly damaging	0.94
R8549:Szt2	UTSW	4	118,229,878 (GRCm39)	missense	unknown
R8768:Szt2	UTSW	4	118,226,613 (GRCm39)	missense	unknown
R8992:Szt2	UTSW	4	118,239,985 (GRCm39)	splice site	probably benign
R9001:Szt2	UTSW	4	118,235,529 (GRCm39)	missense	unknown
R9094:Szt2	UTSW	4	118,242,651 (GRCm39)	missense	possibly damaging	0.74
R9110:Szt2	UTSW	4	118,242,630 (GRCm39)	missense	possibly damaging	0.89
R9129:Szt2	UTSW	4	118,221,866 (GRCm39)	missense	unknown
R9184:Szt2	UTSW	4	118,241,726 (GRCm39)	missense	possibly damaging	0.92
R9186:Szt2	UTSW	4	118,242,288 (GRCm39)	missense	probably damaging	1.00
R9424:Szt2	UTSW	4	118,248,151 (GRCm39)	missense	probably damaging	1.00
R9598:Szt2	UTSW	4	118,266,358 (GRCm39)	critical splice donor site	probably null
X0023:Szt2	UTSW	4	118,229,601 (GRCm39)	missense	unknown
Z1176:Szt2	UTSW	4	118,251,173 (GRCm39)	missense	probably damaging	0.99
Z1177:Szt2	UTSW	4	118,248,411 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGAGGCTCTGGTACCAG -3'
(R):5'- AGATTCCGGAAACCCTCCAG -3'

Sequencing Primer
(F):5'- TGGTACCAGGAGACCGTCATG -3'
(R):5'- TTCCCCTTGAGCCAGAGAC -3'

Posted On

2015-04-30