Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Szt2'

193180

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

SZT2 subunit of KICSTOR complex

Synonyms

seaizure threshold 2

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R1763 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

118219940-118266470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118229565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 2820 (W2820R)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000075406
AA Change: W2820R

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: W2820R

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

noncoding transcript
Transcript: ENSMUST00000138386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138632

Predicted Effect

unknown
Transcript: ENSMUST00000183402
AA Change: W351R

Meta Mutation Damage Score

0.9034

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,529 (GRCm39)	V401A	probably benign	Het
Abca4	G	A	3: 121,904,330 (GRCm39)	V794M	probably benign	Het
Abca4	A	T	3: 121,957,479 (GRCm39)	T772S	probably damaging	Het
Acox3	G	A	5: 35,765,683 (GRCm39)		probably null	Het
Adamts17	A	G	7: 66,797,463 (GRCm39)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Als2	T	C	1: 59,214,150 (GRCm39)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,469,215 (GRCm39)	F321I	probably benign	Het
Atp5pb	A	G	3: 105,858,905 (GRCm39)		probably null	Het
Bloc1s5	A	G	13: 38,803,060 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 29,821,153 (GRCm39)	V1121A	probably benign	Het
Cad	G	A	5: 31,218,295 (GRCm39)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,744,619 (GRCm39)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,393,795 (GRCm39)	K686N	probably benign	Het
Ccnt2	T	C	1: 127,727,143 (GRCm39)	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,275,187 (GRCm39)		probably null	Het
Chrna7	A	G	7: 62,749,000 (GRCm39)	V494A	probably benign	Het
Clec2i	T	G	6: 128,872,388 (GRCm39)	Y198*	probably null	Het
Col22a1	A	G	15: 71,879,025 (GRCm39)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,794,263 (GRCm39)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,401,841 (GRCm39)		probably null	Het
Dlk1	G	T	12: 109,424,045 (GRCm39)	C102F	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Dscc1	T	A	15: 54,947,535 (GRCm39)	H215L	probably damaging	Het
Dus1l	C	G	11: 120,686,497 (GRCm39)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,474,822 (GRCm39)	V268L	probably benign	Het
F2	A	C	2: 91,465,251 (GRCm39)	C104W	probably damaging	Het
F5	C	A	1: 164,020,104 (GRCm39)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,329,832 (GRCm39)	L74P	unknown	Het
Frmd6	G	A	12: 70,940,396 (GRCm39)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,365,659 (GRCm39)	S158A	probably damaging	Het
Galc	T	C	12: 98,200,525 (GRCm39)	N295S	probably damaging	Het
Gm6408	A	T	5: 146,419,132 (GRCm39)	N49I	probably damaging	Het
Grm1	T	A	10: 10,955,610 (GRCm39)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,866 (GRCm39)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,204,602 (GRCm39)	D59G	probably damaging	Het
Iars1	G	A	13: 49,876,553 (GRCm39)		probably null	Het
Ifi27l2a	C	T	12: 103,403,941 (GRCm39)	A127V	possibly damaging	Het
Ikbip	A	G	10: 90,932,343 (GRCm39)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,193,614 (GRCm39)	T479A	probably benign	Het
Krt12	T	A	11: 99,306,886 (GRCm39)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,743,025 (GRCm39)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,704,401 (GRCm39)	V128A	probably benign	Het
Map4k4	C	A	1: 40,039,917 (GRCm39)		probably benign	Het
Mtmr7	T	C	8: 41,004,852 (GRCm39)	T575A	probably benign	Het
Myh13	G	A	11: 67,225,402 (GRCm39)	A256T	probably benign	Het
Napepld	A	G	5: 21,888,408 (GRCm39)	Y14H	probably benign	Het
Npr1	T	C	3: 90,366,644 (GRCm39)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,759,087 (GRCm39)	F127S	probably benign	Het
Nwd2	T	A	5: 63,965,614 (GRCm39)	S1733T	probably benign	Het
Or11a4	T	C	17: 37,536,321 (GRCm39)	F102L	probably benign	Het
Or4c102	A	G	2: 88,422,780 (GRCm39)	I211V	probably benign	Het
Or4c10b	G	A	2: 89,711,473 (GRCm39)	G101E	probably damaging	Het
Or6z1	T	G	7: 6,504,440 (GRCm39)	I262L	probably benign	Het
Or8b44	A	G	9: 38,410,334 (GRCm39)	Y123C	probably damaging	Het
Paqr7	A	T	4: 134,234,409 (GRCm39)	I89F	probably benign	Het
Pidd1	C	A	7: 141,019,543 (GRCm39)	V706L	probably benign	Het
Polr3c	A	T	3: 96,620,911 (GRCm39)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,179,028 (GRCm39)	Y233H	probably damaging	Het
Psmc3	A	G	2: 90,886,340 (GRCm39)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,733,368 (GRCm39)	I753L	probably benign	Het
Rad21	T	C	15: 51,841,566 (GRCm39)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm39)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,980,863 (GRCm39)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,178,628 (GRCm39)	D1449G	probably damaging	Het
Sema4g	C	T	19: 44,990,044 (GRCm39)	R708*	probably null	Het
Septin9	T	C	11: 117,181,254 (GRCm39)	I18T	probably benign	Het
Serpinb6b	A	G	13: 33,162,041 (GRCm39)	E280G	probably damaging	Het
Slamf6	T	C	1: 171,770,154 (GRCm39)		probably benign	Het
Slc6a21	G	A	7: 44,937,158 (GRCm39)	W554*	probably null	Het
Slco1a4	A	C	6: 141,758,457 (GRCm39)	I518R	probably benign	Het
Stab1	T	A	14: 30,890,373 (GRCm39)	Q26L	probably benign	Het
Stox1	A	G	10: 62,503,744 (GRCm39)	F104L	probably damaging	Het
Suco	T	C	1: 161,662,518 (GRCm39)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,735,856 (GRCm39)	K458E	probably damaging	Het
Tmtc1	C	A	6: 148,196,116 (GRCm39)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,522,266 (GRCm39)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,102,243 (GRCm39)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,350,909 (GRCm39)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,594,801 (GRCm39)	L388P	possibly 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
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
R4039:Szt2	UTSW	4	118,222,149 (GRCm39)	unclassified	probably benign
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'- AATGCACCAAGCGGGATGACTG -3'
(R):5'- TCCCTTTGATGAAGCTCTGAGGGAC -3'

Sequencing Primer
(F):5'- GATGACTGCTTCAGGGTCTCC -3'
(R):5'- ACGGGCAGCAGTTCTTAG -3'

Posted On

2014-05-23