Mutagenetix > Incidental Mutation

Incidental Mutation 'R7923:Szt2'

648515

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 #

R7923 (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 118373840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2548 (V2548A)

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: V2548A

SMART Domains

Protein: ENSMUSP00000074862
Gene: ENSMUSG00000033253
AA Change: V2548A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 72,444,911	T54M	probably damaging	Het
4932443I19Rik	A	C	8: 13,738,456	H140P	unknown	Het
Aacs	T	A	5: 125,511,884	S409T	probably damaging	Het
Atf6	T	C	1: 170,794,706	M449V	probably benign	Het
B4galt1	C	T	4: 40,809,373	G332S	probably benign	Het
Bcl11a	G	T	11: 24,163,680	R341M	probably damaging	Het
Brf2	G	A	8: 27,124,190	Q323*	probably null	Het
Bscl2	T	C	19: 8,847,519	V322A	probably benign	Het
Btnl9	T	C	11: 49,180,738	Y86C	probably damaging	Het
C4b	T	A	17: 34,742,380	I202F	probably damaging	Het
Cbfb	T	A	8: 105,194,593		probably null	Het
Cc2d2b	T	A	19: 40,806,849	Y963N	possibly damaging	Het
Cep135	A	T	5: 76,609,692	D391V	possibly damaging	Het
Col12a1	A	G	9: 79,678,493	V1228A	probably benign	Het
Cr2	T	A	1: 195,168,687	Y157F	probably benign	Het
Creg2	C	T	1: 39,650,903	G13E	probably benign	Het
Cul5	G	T	9: 53,624,166	A595E	probably benign	Het
Cyp4f16	A	G	17: 32,546,747	E368G	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Eps15	G	A	4: 109,315,872	D177N	possibly damaging	Het
Erbb4	C	T	1: 68,259,209	R684H	probably damaging	Het
Ermp1	C	T	19: 29,628,658	V419I	probably benign	Het
Foxi3	T	C	6: 70,960,716	S311P	probably benign	Het
Fras1	C	T	5: 96,739,318	A2653V	probably damaging	Het
Gbp3	A	T	3: 142,567,612	N307Y	probably damaging	Het
Ggcx	G	A	6: 72,427,917	R436Q	probably damaging	Het
Gimap3	A	T	6: 48,765,627	V123D	probably benign	Het
Gm14326	A	T	2: 177,945,887	Y439N	probably damaging	Het
Gm4756	G	T	12: 72,619,358	Q180K	probably benign	Het
Gm5591	A	G	7: 38,521,914	S244P	probably benign	Het
Gm9507	A	T	10: 77,811,537	C103S	unknown	Het
Guf1	G	A	5: 69,561,159	V214I	probably benign	Het
Ido2	T	C	8: 24,576,193	Y19C	probably damaging	Het
Idua	T	C	5: 108,680,583	S268P	probably damaging	Het
Igf1r	T	C	7: 68,190,101	Y719H	probably damaging	Het
Itgb4	A	T	11: 115,982,699		probably null	Het
Kctd19	T	A	8: 105,385,058	T868S	probably damaging	Het
Lonrf2	A	T	1: 38,800,762	H417Q	probably benign	Het
Lrp2	T	C	2: 69,438,388	T4184A	possibly damaging	Het
Mapk15	T	C	15: 75,996,446	F219S	probably damaging	Het
Myh7b	A	T	2: 155,625,966	Y808F	probably benign	Het
Myo19	T	G	11: 84,885,710	F64C	possibly damaging	Het
Mysm1	A	T	4: 94,961,765	V434D	probably damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Nbeal2	A	T	9: 110,631,446	Y1780*	probably null	Het
Ndc80	A	T	17: 71,496,301	M615K	probably benign	Het
Nfkbib	C	A	7: 28,766,263	V54F	probably damaging	Het
Npy5r	A	G	8: 66,681,752	F130L	probably damaging	Het
Nt5c3	T	C	6: 56,883,042	E304G	probably benign	Het
Odaph	A	G	5: 91,994,699	D40G	possibly damaging	Het
Olfr1389	C	T	11: 49,430,605	T43I	probably benign	Het
Olfr1469	T	C	19: 13,410,818	M83T	probably benign	Het
Olfr695	T	A	7: 106,714,442	K80*	probably null	Het
Olfr974	A	T	9: 39,942,967	K236*	probably null	Het
Palm3	T	A	8: 84,029,461	I534K	probably benign	Het
Pde10a	A	G	17: 8,929,132	N89S	probably benign	Het
Piezo1	T	C	8: 122,496,444	K870E		Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Pnpla6	T	A	8: 3,531,737	Y662*	probably null	Het
Proser3	A	T	7: 30,549,661	F2Y	possibly damaging	Het
Psma5	A	G	3: 108,265,129	I54V	probably benign	Het
Qrich2	C	A	11: 116,457,337	G887V	probably damaging	Het
Rdx	A	G	9: 52,065,901	D150G	possibly damaging	Het
Reln	C	T	5: 22,134,692	V221I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Samd14	A	G	11: 95,023,458		probably null	Het
Scimp	A	T	11: 70,791,515	I125N	possibly damaging	Het
Sec23a	A	G	12: 58,992,247	F289L	probably damaging	Het
Sipa1l3	G	A	7: 29,339,146	Q1408*	probably null	Het
Skor2	T	C	18: 76,858,721	L46P	unknown	Het
Slc12a1	A	T	2: 125,214,092	I848F	possibly damaging	Het
Slc47a1	A	G	11: 61,363,403	L211P	probably damaging	Het
Slc7a10	T	C	7: 35,195,129	V71A	probably damaging	Het
Smco1	C	A	16: 32,274,047	Q179K	possibly damaging	Het
Smg1	A	G	7: 118,143,322	L3223P	possibly damaging	Het
Smpdl3a	T	C	10: 57,801,045	S80P	probably damaging	Het
Spire2	A	G	8: 123,332,987	R75G	probably benign	Het
Sptbn2	T	A	19: 4,746,799	H1808Q	probably benign	Het
Srgap2	T	C	1: 131,300,413	E720G	possibly damaging	Het
Ssfa2	G	T	2: 79,662,615	E1169*	probably null	Het
Supv3l1	T	C	10: 62,445,081	D177G	probably damaging	Het
Syne1	C	T	10: 5,264,738	E3215K	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Washc2	A	G	6: 116,226,424	E384G	possibly damaging	Het
Zfp712	T	A	13: 67,042,185	N93Y	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
R7163:Szt2	UTSW	4	118405530	missense	possibly damaging	0.90
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
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'- TGACTTAGCTTCCTGTAGTTGC -3'
(R):5'- GTCTTTAGACGCCGGACAAC -3'

Sequencing Primer
(F):5'- CCAGCTTTTAGGACTCTGGGAAG -3'
(R):5'- GGACCCTGCATCCCGTATTTG -3'

Posted On

2020-09-15