Mutagenetix > Incidental Mutation

Incidental Mutation 'R6049:Szt2'

483436

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

SZT2 subunit of KICSTOR complex

Synonyms

seaizure threshold 2

MMRRC Submission

044217-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R6049 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

118219940-118266470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118260185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 54 (S54P)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000075406
AA Change: S54P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: S54P

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

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

98% (60/61)

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	G	A	4: 103,088,520 (GRCm39)	H229Y	probably benign	Het
Aadacl2fm2	A	C	3: 59,659,570 (GRCm39)	D341A	probably damaging	Het
Abcd2	A	G	15: 91,062,439 (GRCm39)	F500L	probably benign	Het
Adgb	A	G	10: 10,253,770 (GRCm39)	L1190P	probably damaging	Het
Adgrv1	A	G	13: 81,545,473 (GRCm39)	V5604A	probably benign	Het
Ank2	T	A	3: 126,736,669 (GRCm39)	T3072S	possibly damaging	Het
Arhgap39	A	G	15: 76,611,601 (GRCm39)		probably null	Het
C6	T	C	15: 4,764,654 (GRCm39)	C117R	probably damaging	Het
Cacna1a	A	G	8: 85,365,475 (GRCm39)	E2206G	probably damaging	Het
Cd2bp2	A	T	7: 126,793,007 (GRCm39)	F338L	probably damaging	Het
Cemip2	A	T	19: 21,803,490 (GRCm39)	Q841L	probably benign	Het
Cngb1	T	C	8: 95,997,470 (GRCm39)	D575G	probably damaging	Het
Cplane2	T	A	4: 140,945,473 (GRCm39)	V108D	probably benign	Het
Crat	A	G	2: 30,293,553 (GRCm39)	F63S	probably damaging	Het
Crybg3	T	C	16: 59,364,417 (GRCm39)	T2402A	probably benign	Het
Ctsq	A	G	13: 61,186,572 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,361,564 (GRCm39)	R248G	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,961 (GRCm39)	H420R	probably benign	Het
Deup1	A	G	9: 15,472,552 (GRCm39)	F587L	possibly damaging	Het
Dnah6	T	C	6: 73,063,149 (GRCm39)	K2651R	probably benign	Het
Dnah7b	A	G	1: 46,124,762 (GRCm39)	I144V	probably benign	Het
Dnajc1	T	C	2: 18,236,511 (GRCm39)		probably null	Het
Fscb	T	C	12: 64,521,094 (GRCm39)	N124S	possibly damaging	Het
Gabbr2	A	G	4: 46,787,641 (GRCm39)	Y341H	probably damaging	Het
Greb1	T	A	12: 16,731,395 (GRCm39)	I1648F	probably damaging	Het
Hace1	A	T	10: 45,562,758 (GRCm39)	N758Y	probably damaging	Het
Irs2	A	C	8: 11,056,805 (GRCm39)	D542E	probably benign	Het
Kat6a	T	A	8: 23,429,053 (GRCm39)	H1469Q	possibly damaging	Het
Kif15	G	A	9: 122,840,687 (GRCm39)	R36K	probably damaging	Het
Krt42	C	T	11: 100,157,886 (GRCm39)	V193M	probably damaging	Het
Limch1	A	T	5: 67,188,203 (GRCm39)	E878V	probably benign	Het
Med18	G	T	4: 132,187,024 (GRCm39)	D158E	probably benign	Het
Med6	T	C	12: 81,638,097 (GRCm39)	N38S	probably damaging	Het
Mup13	T	C	4: 61,183,596 (GRCm39)	T76A	probably benign	Het
Nlrp4b	T	A	7: 10,448,640 (GRCm39)	L281*	probably null	Het
Or5h23	A	T	16: 58,906,509 (GRCm39)	C112*	probably null	Het
Or7g28	C	A	9: 19,272,640 (GRCm39)	G4*	probably null	Het
Or9r3	A	T	10: 129,948,481 (GRCm39)	H59Q	probably benign	Het
Pde4d	A	T	13: 109,169,119 (GRCm39)	R54*	probably null	Het
Pdpk1	A	T	17: 24,317,109 (GRCm39)	Y251*	probably null	Het
Pdzk1	A	G	3: 96,758,979 (GRCm39)	E128G	probably benign	Het
Phf12	A	G	11: 77,918,996 (GRCm39)		probably null	Het
Pnliprp2	A	G	19: 58,748,884 (GRCm39)	E63G	possibly damaging	Het
Prkcd	T	C	14: 30,329,254 (GRCm39)	E62G	possibly damaging	Het
Prl7b1	G	T	13: 27,790,161 (GRCm39)	D77E	probably benign	Het
Rbck1	G	T	2: 152,165,094 (GRCm39)	C85*	probably null	Het
Rfx3	A	T	19: 27,779,795 (GRCm39)	M481K	probably damaging	Het
Rmdn3	A	G	2: 118,983,906 (GRCm39)	F159L	probably damaging	Het
Rpusd3	A	C	6: 113,394,802 (GRCm39)		probably null	Het
Ska1	T	C	18: 74,335,671 (GRCm39)	T100A	probably benign	Het
Slc1a3	T	C	15: 8,675,177 (GRCm39)	E276G	probably damaging	Het
Slc27a6	T	A	18: 58,731,732 (GRCm39)	Y361N	probably damaging	Het
Smc1b	A	G	15: 85,005,896 (GRCm39)	L336S	probably damaging	Het
St7	A	G	6: 17,694,347 (GRCm39)	D46G	possibly damaging	Het
Supt5	A	G	7: 28,014,622 (GRCm39)	I1059T	probably benign	Het
Syne1	A	T	10: 5,297,926 (GRCm39)	S1124T	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tbc1d7	A	C	13: 43,312,836 (GRCm39)	M19R	probably damaging	Het
Tbpl2	T	C	2: 23,985,004 (GRCm39)	N47D	possibly damaging	Het
Tgfbr3	C	T	5: 107,266,351 (GRCm39)	A790T	probably damaging	Het
Tnr	T	C	1: 159,740,324 (GRCm39)	V1166A	probably damaging	Het
Ttn	G	A	2: 76,676,654 (GRCm39)		probably benign	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
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
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'- TTACCACAATGCCAGTCGATG -3'
(R):5'- TGTCTATCACATGTGTGTAGGG -3'

Sequencing Primer
(F):5'- CAGTCGATGGGCTGAGGTC -3'
(R):5'- CCCTCATATCAAGGCTGGATGAG -3'

Posted On

2017-07-14