Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Sez6'

215206

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

D11Bhm177e, sez-6

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77930800-77979048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77972932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 439 (T439I)

Ref Sequence

ENSEMBL: ENSMUSP00000091532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000093995]

AlphaFold

Q7TSK2

Predicted Effect

probably damaging
Transcript: ENSMUST00000000646
AA Change: T439I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: T439I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
CUB	241	350	9.36e-2	SMART
CCP	354	409	1.23e-10	SMART
CUB	413	524	1.41e-28	SMART
CCP	529	586	5.43e-12	SMART
CUB	590	701	7.49e-24	SMART
CCP	707	762	3.09e-16	SMART
CCP	768	827	3.5e-15	SMART
CCP	835	892	1.42e-15	SMART
transmembrane domain	910	932	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093995
AA Change: T439I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: T439I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
CUB	241	350	9.36e-2	SMART
CCP	354	409	1.23e-10	SMART
CUB	413	524	1.41e-28	SMART
CCP	529	586	5.43e-12	SMART
CUB	590	701	7.49e-24	SMART
CCP	707	762	3.09e-16	SMART
CCP	768	827	3.5e-15	SMART
CCP	835	892	1.42e-15	SMART
transmembrane domain	923	945	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126866

Predicted Effect

unknown
Transcript: ENSMUST00000140630
AA Change: T54I

SMART Domains

Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: T54I

Domain	Start	End	E-Value	Type
CUB	29	140	9.8e-28	SMART
CCP	157	214	5.43e-12	SMART
Pfam:CUB	218	278	1.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142542

Predicted Effect

unknown
Transcript: ENSMUST00000151982
AA Change: T272I

SMART Domains

Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
AA Change: T272I

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
CUB	75	184	9.36e-2	SMART
CCP	188	243	1.23e-10	SMART
CUB	247	358	8.08e-29	SMART
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155087

Meta Mutation Damage Score

0.2083

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,157,886		probably null	Het
Angel1	A	C	12: 86,702,319	L656V	probably damaging	Het
Ankrd12	G	A	17: 65,986,686	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,307,615	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Bnip3	T	G	7: 138,894,630		silent	Het
Btc	T	C	5: 91,362,401	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cd2bp2	T	C	7: 127,193,878	D324G	probably benign	Het
Cdc20b	A	G	13: 113,071,917	T216A	probably benign	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,525,233	E230G	probably benign	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27b1	T	A	10: 127,048,312	V11D	probably damaging	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 65,976,398	S2785G	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,933,689	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,892,962		probably benign	Het
Elac2	T	A	11: 64,979,189	S27T	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgd6	T	C	10: 94,045,006	V574A	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Focad	A	G	4: 88,342,212	N902D	unknown	Het
Focad	A	G	4: 88,397,179	S1525G	probably benign	Het
Fras1	T	C	5: 96,667,437	W1338R	probably benign	Het
Fry	A	G	5: 150,400,924	I1151V	probably null	Het
Gm10076	T	G	14: 105,681,870		noncoding transcript	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Gm5698	T	G	1: 30,977,961	D3A	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gngt2	C	T	11: 95,845,146		probably benign	Het
Gsdma	T	C	11: 98,671,367		probably null	Het
Gtf2h3	A	T	5: 124,602,199		probably benign	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Irs1	T	C	1: 82,288,459	S679G	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnk16	A	G	14: 20,265,279	V72A	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matr3	T	A	18: 35,588,325		probably benign	Het
Med13l	T	G	5: 118,728,833	F651V	probably benign	Het
Mfsd11	T	C	11: 116,873,914	V388A	probably benign	Het
Mki67	C	T	7: 135,698,065	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936		probably benign	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1234	A	G	2: 89,363,009	V140A	probably benign	Het
Olfr376	T	A	11: 73,375,601	V287E	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,371,037	E523G	probably damaging	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Pigr	G	A	1: 130,846,662		probably benign	Het
Pkd1l1	A	T	11: 8,836,197		probably benign	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Rgs3	A	G	4: 62,702,147	I537V	probably damaging	Het
Rhobtb2	T	G	14: 69,796,444	D444A	probably damaging	Het
Rnf40	T	C	7: 127,591,784	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Samd3	A	G	10: 26,263,986		probably benign	Het
Sec61a2	A	G	2: 5,873,736		probably benign	Het
Serpina3m	G	A	12: 104,389,322	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Spg11	C	T	2: 122,060,207	V2044M	probably damaging	Het
Stx18	T	A	5: 38,128,039		probably null	Het
Suclg2	T	C	6: 95,589,094		probably benign	Het
Tlr4	A	T	4: 66,839,444	H158L	probably damaging	Het
Tmem131	A	G	1: 36,812,271	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,321,986	I265N	probably damaging	Het
Trim58	T	A	11: 58,640,667	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,281,824	Q74R	probably benign	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,339,258	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp451	A	G	1: 33,782,193	F151L	probably damaging	Het
Zfp451	G	A	1: 33,783,856	P99S	probably benign	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,769,748	V1069A	probably benign	Het
Zfp938	C	T	10: 82,225,547	G413D	probably damaging	Het

Other mutations in Sez6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Sez6	APN	11	77977289	splice site	probably benign
IGL01142:Sez6	APN	11	77973816	missense	probably damaging	1.00
IGL02252:Sez6	APN	11	77974513	missense	probably damaging	1.00
IGL02332:Sez6	APN	11	77954742	splice site	probably benign
IGL02366:Sez6	APN	11	77976882	missense	probably damaging	0.98
IGL02479:Sez6	APN	11	77978026	missense	possibly damaging	0.84
IGL02963:Sez6	APN	11	77962949	missense	possibly damaging	0.93
velum	UTSW	11	77974549	missense	probably damaging	1.00
R0054:Sez6	UTSW	11	77953873	missense	possibly damaging	0.94
R0054:Sez6	UTSW	11	77953873	missense	possibly damaging	0.94
R0089:Sez6	UTSW	11	77974344	splice site	probably benign
R0485:Sez6	UTSW	11	77953813	missense	probably damaging	1.00
R0598:Sez6	UTSW	11	77977821	missense	possibly damaging	0.88
R0729:Sez6	UTSW	11	77976585	missense	probably benign	0.01
R1117:Sez6	UTSW	11	77974514	missense	probably damaging	1.00
R1199:Sez6	UTSW	11	77953885	missense	probably benign
R1534:Sez6	UTSW	11	77963045	missense	probably damaging	1.00
R1835:Sez6	UTSW	11	77953503	missense	probably benign
R1840:Sez6	UTSW	11	77953717	missense	possibly damaging	0.79
R1970:Sez6	UTSW	11	77954068	critical splice donor site	probably null
R3156:Sez6	UTSW	11	77953779	missense	possibly damaging	0.63
R3930:Sez6	UTSW	11	77976882	missense	probably damaging	0.98
R3931:Sez6	UTSW	11	77976882	missense	probably damaging	0.98
R4894:Sez6	UTSW	11	77975260	missense	probably damaging	1.00
R4904:Sez6	UTSW	11	77975254	missense	probably damaging	1.00
R5026:Sez6	UTSW	11	77968989	missense	probably damaging	1.00
R5040:Sez6	UTSW	11	77969089	critical splice donor site	probably null
R5057:Sez6	UTSW	11	77973153	missense	probably damaging	1.00
R5093:Sez6	UTSW	11	77976562	missense	possibly damaging	0.88
R5640:Sez6	UTSW	11	77973759	intron	probably benign
R6013:Sez6	UTSW	11	77973797	missense	probably damaging	1.00
R6126:Sez6	UTSW	11	77973804	missense	probably damaging	1.00
R6153:Sez6	UTSW	11	77977822	missense	probably damaging	0.99
R6279:Sez6	UTSW	11	77976541	missense	possibly damaging	0.63
R6300:Sez6	UTSW	11	77976541	missense	possibly damaging	0.63
R6475:Sez6	UTSW	11	77973844
R6722:Sez6	UTSW	11	77953702	missense	probably damaging	1.00
R6897:Sez6	UTSW	11	77953559	missense	probably damaging	1.00
R6910:Sez6	UTSW	11	77953869	missense	possibly damaging	0.85
R7012:Sez6	UTSW	11	77977795	missense	probably benign	0.04
R7233:Sez6	UTSW	11	77973137	missense	probably damaging	1.00
R7265:Sez6	UTSW	11	77962865	missense	probably damaging	0.96
R7289:Sez6	UTSW	11	77974323	missense	possibly damaging	0.96
R7405:Sez6	UTSW	11	77962891	missense	probably benign	0.10
R7408:Sez6	UTSW	11	77953530	missense	probably damaging	1.00
R7485:Sez6	UTSW	11	77973885	missense	probably benign	0.01
R7592:Sez6	UTSW	11	77978050	missense	probably damaging	0.99
R7778:Sez6	UTSW	11	77974549	missense	probably damaging	1.00
R7793:Sez6	UTSW	11	77977600	missense	probably damaging	1.00
R7818:Sez6	UTSW	11	77976902	missense	probably damaging	1.00
R7824:Sez6	UTSW	11	77974549	missense	probably damaging	1.00
R7980:Sez6	UTSW	11	77953842	missense	probably benign	0.34
R8008:Sez6	UTSW	11	77973256	nonsense	probably null
R8840:Sez6	UTSW	11	77976487	missense	probably damaging	1.00
R8947:Sez6	UTSW	11	77953527	missense	probably damaging	1.00
R8973:Sez6	UTSW	11	77974571	missense	probably damaging	1.00
R9040:Sez6	UTSW	11	77973936	missense	probably benign
R9081:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9082:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9092:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9094:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9095:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9097:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9169:Sez6	UTSW	11	77977647	missense	probably damaging	0.96
R9513:Sez6	UTSW	11	77974583	missense	probably damaging	1.00
R9630:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9632:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
R9646:Sez6	UTSW	11	77976806	missense	probably damaging	0.99
R9709:Sez6	UTSW	11	77974295	missense	possibly damaging	0.83
X0013:Sez6	UTSW	11	77954780	missense	probably benign	0.01
X0067:Sez6	UTSW	11	77974438	critical splice acceptor site	probably null
Z1088:Sez6	UTSW	11	77973197	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTCCATGTAGAGGGTACGG -3'
(R):5'- TCATAGGAGTCGTACACCGG -3'

Sequencing Primer
(F):5'- TAGAGGGTACGGGGCTGC -3'
(R):5'- ATTTCCATTGCGGATGATGAGCC -3'

Posted On

2014-07-14