Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Szt2'

557717

Institutional Source

Beutler Lab

Gene Symbol

Szt2

Ensembl Gene

ENSMUSG00000033253

Gene Name

seizure threshold 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118362743-118409273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118405530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 17 (F17L)

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: F17L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: F17L

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

probably benign
Transcript: ENSMUST00000144577

SMART Domains

Protein: ENSMUSP00000120158
Gene: ENSMUSG00000006392

Domain	Start	End	E-Value	Type
Pfam:Med8	2	75	3.7e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,408,072	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,414,624	G19D	probably damaging	Het
Abca3	A	T	17: 24,364,942	M102L	probably benign	Het
Adam19	A	T	11: 46,131,717	Y499F	probably benign	Het
Adck2	T	C	6: 39,583,863	V444A	probably damaging	Het
Adck5	T	C	15: 76,593,816	V214A	probably damaging	Het
Agrn	G	A	4: 156,178,509	T437M	probably damaging	Het
Aox3	A	T	1: 58,119,512	I81F	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Blmh	A	G	11: 76,946,161	Y23C	unknown	Het
Cacnb1	A	G	11: 98,012,900	V109A	probably benign	Het
Ccdc27	C	T	4: 154,032,825	R555H	not run	Het
Cep170	A	C	1: 176,774,465	S358R	probably damaging	Het
Cfap46	A	T	7: 139,618,078		probably null	Het
Dclk1	G	T	3: 55,256,128	E214*	probably null	Het
Dhrs1	A	G	14: 55,739,381	L282P	probably benign	Het
Dlgap5	A	G	14: 47,399,638	L461P	probably damaging	Het
Elp2	G	T	18: 24,614,446	C185F	probably benign	Het
Fbxw7	T	C	3: 84,925,585		probably benign	Het
Fga	T	C	3: 83,026,264	V17A	probably benign	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm43302	T	A	5: 105,293,627		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,480,188		probably benign	Het
Hcn1	A	T	13: 117,925,547	I450L	unknown	Het
Hydin	T	A	8: 110,603,336	C4901S	probably benign	Het
Ino80	A	T	2: 119,392,875	I1186N	probably damaging	Het
Ints7	T	A	1: 191,617,837	I781N	possibly damaging	Het
Irf2	T	A	8: 46,837,677	V178E	possibly damaging	Het
Iws1	T	A	18: 32,093,224	S722T	possibly damaging	Het
Jak1	G	A	4: 101,175,188	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,632,077	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940	S169P	probably damaging	Het
Kif15	A	G	9: 123,017,657	N1348S	probably damaging	Het
Kpna7	G	A	5: 145,002,396	P187L	unknown	Het
Krt35	A	T	11: 100,096,158	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,256,737	V131F	probably benign	Het
Mcf2l	G	A	8: 12,915,439	R4H	probably benign	Het
Megf6	C	T	4: 154,267,441	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,926,576	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,981,490	V121A	probably benign	Het
Myl2	T	A	5: 122,101,822	I26N	probably damaging	Het
Myo15	A	G	11: 60,498,369	M862V		Het
Nckap5l	T	C	15: 99,433,473	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,744,710	E90A	probably benign	Het
Nup210	G	T	6: 91,073,331	N385K	probably damaging	Het
Olfr1029	T	A	2: 85,975,588	L115Q	probably damaging	Het
Olfr311	T	C	11: 58,841,186	V24A	probably benign	Het
Olfr330	C	A	11: 58,529,168	E273*	probably null	Het
Olfr897-ps1	T	C	9: 38,309,049	F85L	probably damaging	Het
Olfr90	T	C	17: 37,086,045	N40S	probably damaging	Het
Park2	G	A	17: 12,061,547	C430Y	probably damaging	Het
Pcmt1	A	T	10: 7,638,158	M249K	probably benign	Het
Pde3a	T	C	6: 141,487,544	L767P	probably damaging	Het
Pde8a	T	C	7: 81,306,708	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,840,665	K690*	probably null	Het
Plxna4	T	C	6: 32,496,756	H442R	probably benign	Het
Polr1b	A	G	2: 129,126,011	D1108G	probably benign	Het
Sec23ip	T	C	7: 128,762,533		probably null	Het
Slc24a3	A	G	2: 145,244,991	D57G	probably benign	Het
Sprtn	T	G	8: 124,898,305	F50V	probably damaging	Het
Srr	A	G	11: 74,913,002	F43S	probably damaging	Het
Taar1	G	T	10: 23,921,020	M205I	probably benign	Het
Tas2r143	A	G	6: 42,400,268	I11V	probably benign	Het
Tlx1	T	C	19: 45,151,216	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,938,344		probably null	Het
Vhl	A	G	6: 113,629,490	D156G	possibly damaging	Het
Washc4	T	A	10: 83,591,033	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,200,732	V101A	probably benign	Het
Zfp82	T	C	7: 30,062,244	R71G	probably benign	Het

Other mutations in Szt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Szt2	APN	4	118384250	splice site	probably benign
IGL01082:Szt2	APN	4	118397624	missense	probably damaging	1.00
IGL01348:Szt2	APN	4	118393624	splice site	probably benign
IGL01869:Szt2	APN	4	118399071	missense	possibly damaging	0.87
IGL01918:Szt2	APN	4	118384253	splice site	probably benign
IGL01951:Szt2	APN	4	118376493	unclassified	probably benign
IGL01971:Szt2	APN	4	118386955	missense	probably benign	0.01
IGL02047:Szt2	APN	4	118376637	unclassified	probably benign
IGL02092:Szt2	APN	4	118363332	unclassified	probably benign
IGL02120:Szt2	APN	4	118388564	missense	probably benign	0.01
IGL02210:Szt2	APN	4	118389823	missense	possibly damaging	0.95
IGL02435:Szt2	APN	4	118390823	missense	probably damaging	1.00
IGL02622:Szt2	APN	4	118392890	missense	probably damaging	0.96
IGL02666:Szt2	APN	4	118374055	missense	probably damaging	0.99
IGL02712:Szt2	APN	4	118384833	missense	probably benign	0.19
IGL02983:Szt2	APN	4	118365779	unclassified	probably benign
IGL03026:Szt2	APN	4	118391849	missense	probably benign	0.40
IGL03178:Szt2	APN	4	118382689	missense	unknown
IGL03233:Szt2	APN	4	118372529	missense	unknown
IGL03377:Szt2	APN	4	118402397	splice site	probably benign
IGL03387:Szt2	APN	4	118364725	unclassified	probably benign
PIT4687001:Szt2	UTSW	4	118398201	missense	possibly damaging	0.84
R0026:Szt2	UTSW	4	118384772	missense	possibly damaging	0.92
R0352:Szt2	UTSW	4	118382593	missense	unknown
R0396:Szt2	UTSW	4	118376347	unclassified	probably benign
R0504:Szt2	UTSW	4	118372952	splice site	probably null
R1033:Szt2	UTSW	4	118387106	missense	probably damaging	0.98
R1222:Szt2	UTSW	4	118405459	missense	possibly damaging	0.77
R1418:Szt2	UTSW	4	118387779	missense	probably benign	0.03
R1462:Szt2	UTSW	4	118373967	missense	unknown
R1462:Szt2	UTSW	4	118373967	missense	unknown
R1763:Szt2	UTSW	4	118372368	missense	unknown
R1772:Szt2	UTSW	4	118405517	missense	probably damaging	1.00
R1840:Szt2	UTSW	4	118365657	unclassified	probably benign
R1942:Szt2	UTSW	4	118392620	missense	probably benign	0.17
R1965:Szt2	UTSW	4	118383965	missense	probably benign	0.36
R1998:Szt2	UTSW	4	118375727	critical splice donor site	probably null
R2009:Szt2	UTSW	4	118378064	critical splice donor site	probably null
R2012:Szt2	UTSW	4	118363665	unclassified	probably benign
R2044:Szt2	UTSW	4	118376448	nonsense	probably null
R2066:Szt2	UTSW	4	118373980	missense	unknown
R2345:Szt2	UTSW	4	118381397	missense	unknown
R2857:Szt2	UTSW	4	118369402	missense	probably damaging	1.00
R3156:Szt2	UTSW	4	118402819	critical splice donor site	probably null
R3236:Szt2	UTSW	4	118383034	splice site	probably null
R3237:Szt2	UTSW	4	118383034	splice site	probably null
R3405:Szt2	UTSW	4	118394020	missense	probably benign	0.02
R3795:Szt2	UTSW	4	118391730	missense	probably damaging	1.00
R3878:Szt2	UTSW	4	118390585	missense	probably damaging	1.00
R3906:Szt2	UTSW	4	118378269	unclassified	probably benign
R4012:Szt2	UTSW	4	118383900	missense	probably benign	0.02
R4039:Szt2	UTSW	4	118364952	unclassified	probably benign
R4081:Szt2	UTSW	4	118373567	splice site	probably benign
R4298:Szt2	UTSW	4	118365406	unclassified	probably benign
R4299:Szt2	UTSW	4	118365406	unclassified	probably benign
R4432:Szt2	UTSW	4	118384231	missense	probably damaging	0.99
R4597:Szt2	UTSW	4	118372681	missense	unknown
R4657:Szt2	UTSW	4	118397669	missense	probably benign	0.06
R4663:Szt2	UTSW	4	118377684	unclassified	probably benign
R4670:Szt2	UTSW	4	118375829	unclassified	probably benign
R4704:Szt2	UTSW	4	118393829	missense	probably damaging	0.99
R4748:Szt2	UTSW	4	118389191	nonsense	probably null
R4786:Szt2	UTSW	4	118399062	missense	probably benign	0.20
R4809:Szt2	UTSW	4	118388985	missense	probably damaging	1.00
R4830:Szt2	UTSW	4	118369248	missense	unknown
R4944:Szt2	UTSW	4	118388669	missense	probably benign	0.03
R5077:Szt2	UTSW	4	118369616	critical splice donor site	probably null
R5121:Szt2	UTSW	4	118385444	missense	possibly damaging	0.92
R5140:Szt2	UTSW	4	118386981	missense	possibly damaging	0.46
R5169:Szt2	UTSW	4	118389830	missense	probably benign	0.26
R5198:Szt2	UTSW	4	118388322	missense	probably benign	0.03
R5433:Szt2	UTSW	4	118375466	unclassified	probably benign
R5625:Szt2	UTSW	4	118373217	missense	unknown
R5628:Szt2	UTSW	4	118373217	missense	unknown
R5630:Szt2	UTSW	4	118392905	missense	possibly damaging	0.83
R5808:Szt2	UTSW	4	118372613	missense	unknown
R5902:Szt2	UTSW	4	118391503	missense	probably benign	0.05
R6049:Szt2	UTSW	4	118402988	missense	probably damaging	0.99
R6066:Szt2	UTSW	4	118371974	missense	unknown
R6272:Szt2	UTSW	4	118374290	unclassified	probably benign
R6456:Szt2	UTSW	4	118376697	unclassified	probably benign
R6538:Szt2	UTSW	4	118390477	splice site	probably null
R6604:Szt2	UTSW	4	118385474	missense	probably benign	0.01
R6664:Szt2	UTSW	4	118391745	missense	probably damaging	1.00
R6834:Szt2	UTSW	4	118388325	missense	probably benign	0.01
R7109:Szt2	UTSW	4	118375479	missense	unknown
R7190:Szt2	UTSW	4	118389006	missense	probably damaging	0.98
R7289:Szt2	UTSW	4	118375878	missense	unknown
R7291:Szt2	UTSW	4	118391249	missense	probably damaging	0.98
R7383:Szt2	UTSW	4	118365214	nonsense	probably null
R7448:Szt2	UTSW	4	118363471	missense	unknown
R7637:Szt2	UTSW	4	118393828	missense	probably damaging	0.99
R7833:Szt2	UTSW	4	118366219	missense	unknown
R7896:Szt2	UTSW	4	118402913	missense	possibly damaging	0.62
R7923:Szt2	UTSW	4	118373840	missense	unknown
R8090:Szt2	UTSW	4	118387002	splice site	probably null
R8103:Szt2	UTSW	4	118387864	missense	possibly damaging	0.88
R8288:Szt2	UTSW	4	118389776	missense	probably damaging	0.96
R8309:Szt2	UTSW	4	118375482	frame shift	probably null
R8341:Szt2	UTSW	4	118392836	missense	possibly damaging	0.63
R8480:Szt2	UTSW	4	118386818	missense	probably benign	0.01
R8497:Szt2	UTSW	4	118388321	missense	possibly damaging	0.94
R8549:Szt2	UTSW	4	118372681	missense	unknown
R8768:Szt2	UTSW	4	118369416	missense	unknown
R8992:Szt2	UTSW	4	118382788	splice site	probably benign
R9001:Szt2	UTSW	4	118378332	missense	unknown
R9094:Szt2	UTSW	4	118385454	missense	possibly damaging	0.74
R9110:Szt2	UTSW	4	118385433	missense	possibly damaging	0.89
R9129:Szt2	UTSW	4	118364669	missense	unknown
R9184:Szt2	UTSW	4	118384529	missense	possibly damaging	0.92
R9186:Szt2	UTSW	4	118385091	missense	probably damaging	1.00
R9424:Szt2	UTSW	4	118390954	missense	probably damaging	1.00
R9598:Szt2	UTSW	4	118409161	critical splice donor site	probably null
X0023:Szt2	UTSW	4	118372404	missense	unknown
Z1176:Szt2	UTSW	4	118393976	missense	probably damaging	0.99
Z1177:Szt2	UTSW	4	118391214	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGCAGGCAAAACCATTG -3'
(R):5'- AGAAGGTAAGTTAGTTCCCTTCCTC -3'

Sequencing Primer
(F):5'- GCCCCTCCCAGCCTTAACAG -3'
(R):5'- AAGTTAGTTCCCTTCCTCTACATGG -3'

Posted On

2019-06-26