Mutagenetix > Incidental Mutation

Incidental Mutation 'R5140:Szt2'

396385

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

SZT2 subunit of KICSTOR complex

Synonyms

seaizure threshold 2

MMRRC Submission

042726-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.610) question?

Stock #

R5140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118219940-118266470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118244178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1309 (R1309Q)

Ref Sequence

ENSEMBL: ENSMUSP00000074862 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075406
AA Change: R1309Q

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: R1309Q

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: ENSMUST00000136737

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (59/60)

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
Abcb1a	T	A	5: 8,752,154 (GRCm39)	I405N	probably damaging	Het
Abhd17b	T	C	19: 21,661,545 (GRCm39)	L244P	probably damaging	Het
Aebp2	T	A	6: 140,579,532 (GRCm39)	C34*	probably null	Het
Arhgap33	A	G	7: 30,227,726 (GRCm39)	V491A	probably damaging	Het
Cacul1	C	T	19: 60,551,619 (GRCm39)	R201Q	probably benign	Het
Cald1	T	A	6: 34,730,515 (GRCm39)	N77K	probably damaging	Het
Clcn6	A	C	4: 148,122,774 (GRCm39)		probably benign	Het
Copb1	A	T	7: 113,846,035 (GRCm39)	H178Q	probably benign	Het
Dnah17	C	T	11: 117,977,771 (GRCm39)	V1854I	probably damaging	Het
Dnajc16	T	G	4: 141,491,994 (GRCm39)	T610P	possibly damaging	Het
Enpp1	T	C	10: 24,528,750 (GRCm39)	N624S	possibly damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Foxn1	T	C	11: 78,252,459 (GRCm39)	T310A	probably benign	Het
Galnt16	T	A	12: 80,628,073 (GRCm39)	D256E	possibly damaging	Het
Gbp11	T	C	5: 105,478,919 (GRCm39)	D173G	probably damaging	Het
Glmn	A	G	5: 107,718,066 (GRCm39)	S284P	probably damaging	Het
Gm3985	A	G	8: 33,380,693 (GRCm39)		noncoding transcript	Het
Hs3st6	A	T	17: 24,977,521 (GRCm39)	M334L	probably benign	Het
Idua	T	A	5: 108,828,180 (GRCm39)	D155E	probably damaging	Het
Kdm6b	T	C	11: 69,290,881 (GRCm39)		probably benign	Het
Kiss1r	T	C	10: 79,757,461 (GRCm39)	F272L	probably damaging	Het
Krt35	T	C	11: 99,985,343 (GRCm39)	K233E	probably damaging	Het
Krt36	C	T	11: 99,994,328 (GRCm39)	V250M	probably damaging	Het
Lhpp	T	C	7: 132,307,361 (GRCm39)	Y253H	probably damaging	Het
Npas3	T	A	12: 53,547,897 (GRCm39)	L51*	probably null	Het
Or10ac1	T	C	6: 42,515,449 (GRCm39)	H169R	probably benign	Het
Or1j18	T	A	2: 36,624,510 (GRCm39)	M59K	possibly damaging	Het
Or4a74	T	C	2: 89,439,627 (GRCm39)	Y273C	probably damaging	Het
Or4c119	T	C	2: 88,987,451 (GRCm39)	K23E	probably benign	Het
Or56b2	T	C	7: 104,338,107 (GRCm39)	M295T	probably benign	Het
Pcdhb9	T	G	18: 37,534,186 (GRCm39)	V60G	probably benign	Het
Prkce	T	C	17: 86,789,570 (GRCm39)	V239A	probably benign	Het
Ralgapa1	C	T	12: 55,822,937 (GRCm39)	C293Y	probably damaging	Het
Ralgapa1	C	T	12: 55,712,459 (GRCm39)	R1804Q	probably damaging	Het
Rnf26	C	A	9: 44,024,071 (GRCm39)		probably null	Het
Safb2	T	C	17: 56,884,901 (GRCm39)	D178G	probably benign	Het
Scn9a	C	T	2: 66,395,511 (GRCm39)	V178M	possibly damaging	Het
Sergef	A	G	7: 46,285,026 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,190,544 (GRCm39)	G7R	probably benign	Het
Setd2	C	A	9: 110,380,197 (GRCm39)	D1337E	probably benign	Het
Shprh	T	A	10: 11,030,449 (GRCm39)	M222K	probably benign	Het
Slc25a40	T	C	5: 8,480,486 (GRCm39)	Y79H	probably damaging	Het
Slc41a2	A	G	10: 83,133,155 (GRCm39)	M297T	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spcs1	A	G	14: 30,722,570 (GRCm39)	L83S	probably benign	Het
Sult1c2	T	C	17: 54,276,743 (GRCm39)	N106S	probably benign	Het
Ube3c	T	A	5: 29,840,709 (GRCm39)	F695I	probably damaging	Het
Uimc1	A	G	13: 55,223,330 (GRCm39)	L314P	probably damaging	Het
Usp17le	C	T	7: 104,418,645 (GRCm39)	E166K	probably damaging	Het
Vmn2r92	G	A	17: 18,372,312 (GRCm39)	D41N	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
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'- TTCGATGCTACTGCTGAAGGG -3'
(R):5'- GCCAAGGCATCATTTAGGGG -3'

Sequencing Primer
(F):5'- TACTGCTGAAGGGCCCTG -3'
(R):5'- CATCATTTAGGGGGTCCACCAAG -3'

Posted On

2016-06-21