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

sez-6, D11Bhm177e

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

77821626-77869874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77863758 bp (GRCm39)

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: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,376,860 (GRCm39)		probably null	Het
Angel1	A	C	12: 86,749,093 (GRCm39)	L656V	probably damaging	Het
Ankrd12	G	A	17: 66,293,681 (GRCm39)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,464,958 (GRCm39)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,496,359 (GRCm39)		silent	Het
Btc	T	C	5: 91,510,260 (GRCm39)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 126,793,050 (GRCm39)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,208,451 (GRCm39)	T216A	probably benign	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,416,059 (GRCm39)	E230G	probably benign	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27b1	T	A	10: 126,884,181 (GRCm39)	V11D	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,867,224 (GRCm39)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,754,059 (GRCm39)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,777,163 (GRCm39)		probably benign	Het
Elac2	T	A	11: 64,870,015 (GRCm39)	S27T	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgd6	T	C	10: 93,880,868 (GRCm39)	V574A	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Focad	A	G	4: 88,260,449 (GRCm39)	N902D	unknown	Het
Focad	A	G	4: 88,315,416 (GRCm39)	S1525G	probably benign	Het
Fras1	T	C	5: 96,815,296 (GRCm39)	W1338R	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10076	T	G	14: 105,919,304 (GRCm39)		noncoding transcript	Het
Gm5698	T	G	1: 31,017,042 (GRCm39)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,735,972 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,562,193 (GRCm39)		probably null	Het
Gtf2h3	A	T	5: 124,740,262 (GRCm39)		probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk16	A	G	14: 20,315,347 (GRCm39)	V72A	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matr3	T	A	18: 35,721,378 (GRCm39)		probably benign	Het
Med13l	T	G	5: 118,866,898 (GRCm39)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,764,740 (GRCm39)	V388A	probably benign	Het
Mki67	C	T	7: 135,299,794 (GRCm39)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1e1c	T	A	11: 73,266,427 (GRCm39)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,193,353 (GRCm39)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,206,859 (GRCm39)	E523G	probably damaging	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pigr	G	A	1: 130,774,399 (GRCm39)		probably benign	Het
Pkd1l1	A	T	11: 8,786,197 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Rgs3	A	G	4: 62,620,384 (GRCm39)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 70,033,893 (GRCm39)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,190,956 (GRCm39)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Samd3	A	G	10: 26,139,884 (GRCm39)		probably benign	Het
Sec61a2	A	G	2: 5,878,547 (GRCm39)		probably benign	Het
Serpina3m	G	A	12: 104,355,581 (GRCm39)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Spg11	C	T	2: 121,890,688 (GRCm39)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Suclg2	T	C	6: 95,566,075 (GRCm39)		probably benign	Het
Tlr4	A	T	4: 66,757,681 (GRCm39)	H158L	probably damaging	Het
Tmem131	A	G	1: 36,851,352 (GRCm39)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,115,635 (GRCm39)	I265N	probably damaging	Het
Trim58	T	A	11: 58,531,493 (GRCm39)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,172,650 (GRCm39)	Q74R	probably benign	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,487,124 (GRCm39)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp451	A	G	1: 33,821,274 (GRCm39)	F151L	probably damaging	Het
Zfp451	G	A	1: 33,822,937 (GRCm39)	P99S	probably benign	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,819,748 (GRCm39)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably damaging	Het

Other mutations in Sez6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Sez6	APN	11	77,868,115 (GRCm39)	splice site	probably benign
IGL01142:Sez6	APN	11	77,864,642 (GRCm39)	missense	probably damaging	1.00
IGL02252:Sez6	APN	11	77,865,339 (GRCm39)	missense	probably damaging	1.00
IGL02332:Sez6	APN	11	77,845,568 (GRCm39)	splice site	probably benign
IGL02366:Sez6	APN	11	77,867,708 (GRCm39)	missense	probably damaging	0.98
IGL02479:Sez6	APN	11	77,868,852 (GRCm39)	missense	possibly damaging	0.84
IGL02963:Sez6	APN	11	77,853,775 (GRCm39)	missense	possibly damaging	0.93
velum	UTSW	11	77,865,375 (GRCm39)	missense	probably damaging	1.00
R0054:Sez6	UTSW	11	77,844,699 (GRCm39)	missense	possibly damaging	0.94
R0054:Sez6	UTSW	11	77,844,699 (GRCm39)	missense	possibly damaging	0.94
R0089:Sez6	UTSW	11	77,865,170 (GRCm39)	splice site	probably benign
R0485:Sez6	UTSW	11	77,844,639 (GRCm39)	missense	probably damaging	1.00
R0598:Sez6	UTSW	11	77,868,647 (GRCm39)	missense	possibly damaging	0.88
R0729:Sez6	UTSW	11	77,867,411 (GRCm39)	missense	probably benign	0.01
R1117:Sez6	UTSW	11	77,865,340 (GRCm39)	missense	probably damaging	1.00
R1199:Sez6	UTSW	11	77,844,711 (GRCm39)	missense	probably benign
R1534:Sez6	UTSW	11	77,853,871 (GRCm39)	missense	probably damaging	1.00
R1835:Sez6	UTSW	11	77,844,329 (GRCm39)	missense	probably benign
R1840:Sez6	UTSW	11	77,844,543 (GRCm39)	missense	possibly damaging	0.79
R1970:Sez6	UTSW	11	77,844,894 (GRCm39)	critical splice donor site	probably null
R3156:Sez6	UTSW	11	77,844,605 (GRCm39)	missense	possibly damaging	0.63
R3930:Sez6	UTSW	11	77,867,708 (GRCm39)	missense	probably damaging	0.98
R3931:Sez6	UTSW	11	77,867,708 (GRCm39)	missense	probably damaging	0.98
R4894:Sez6	UTSW	11	77,866,086 (GRCm39)	missense	probably damaging	1.00
R4904:Sez6	UTSW	11	77,866,080 (GRCm39)	missense	probably damaging	1.00
R5026:Sez6	UTSW	11	77,859,815 (GRCm39)	missense	probably damaging	1.00
R5040:Sez6	UTSW	11	77,859,915 (GRCm39)	critical splice donor site	probably null
R5057:Sez6	UTSW	11	77,863,979 (GRCm39)	missense	probably damaging	1.00
R5093:Sez6	UTSW	11	77,867,388 (GRCm39)	missense	possibly damaging	0.88
R5640:Sez6	UTSW	11	77,864,585 (GRCm39)	intron	probably benign
R6013:Sez6	UTSW	11	77,864,623 (GRCm39)	missense	probably damaging	1.00
R6126:Sez6	UTSW	11	77,864,630 (GRCm39)	missense	probably damaging	1.00
R6153:Sez6	UTSW	11	77,868,648 (GRCm39)	missense	probably damaging	0.99
R6279:Sez6	UTSW	11	77,867,367 (GRCm39)	missense	possibly damaging	0.63
R6300:Sez6	UTSW	11	77,867,367 (GRCm39)	missense	possibly damaging	0.63
R6475:Sez6	UTSW	11	77,864,670 (GRCm39)
R6722:Sez6	UTSW	11	77,844,528 (GRCm39)	missense	probably damaging	1.00
R6897:Sez6	UTSW	11	77,844,385 (GRCm39)	missense	probably damaging	1.00
R6910:Sez6	UTSW	11	77,844,695 (GRCm39)	missense	possibly damaging	0.85
R7012:Sez6	UTSW	11	77,868,621 (GRCm39)	missense	probably benign	0.04
R7233:Sez6	UTSW	11	77,863,963 (GRCm39)	missense	probably damaging	1.00
R7265:Sez6	UTSW	11	77,853,691 (GRCm39)	missense	probably damaging	0.96
R7289:Sez6	UTSW	11	77,865,149 (GRCm39)	missense	possibly damaging	0.96
R7405:Sez6	UTSW	11	77,853,717 (GRCm39)	missense	probably benign	0.10
R7408:Sez6	UTSW	11	77,844,356 (GRCm39)	missense	probably damaging	1.00
R7485:Sez6	UTSW	11	77,864,711 (GRCm39)	missense	probably benign	0.01
R7592:Sez6	UTSW	11	77,868,876 (GRCm39)	missense	probably damaging	0.99
R7778:Sez6	UTSW	11	77,865,375 (GRCm39)	missense	probably damaging	1.00
R7793:Sez6	UTSW	11	77,868,426 (GRCm39)	missense	probably damaging	1.00
R7818:Sez6	UTSW	11	77,867,728 (GRCm39)	missense	probably damaging	1.00
R7824:Sez6	UTSW	11	77,865,375 (GRCm39)	missense	probably damaging	1.00
R7980:Sez6	UTSW	11	77,844,668 (GRCm39)	missense	probably benign	0.34
R8008:Sez6	UTSW	11	77,864,082 (GRCm39)	nonsense	probably null
R8840:Sez6	UTSW	11	77,867,313 (GRCm39)	missense	probably damaging	1.00
R8947:Sez6	UTSW	11	77,844,353 (GRCm39)	missense	probably damaging	1.00
R8973:Sez6	UTSW	11	77,865,397 (GRCm39)	missense	probably damaging	1.00
R9040:Sez6	UTSW	11	77,864,762 (GRCm39)	missense	probably benign
R9081:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9082:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9092:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9094:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9095:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9097:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9169:Sez6	UTSW	11	77,868,473 (GRCm39)	missense	probably damaging	0.96
R9513:Sez6	UTSW	11	77,865,409 (GRCm39)	missense	probably damaging	1.00
R9630:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9632:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
R9646:Sez6	UTSW	11	77,867,632 (GRCm39)	missense	probably damaging	0.99
R9709:Sez6	UTSW	11	77,865,121 (GRCm39)	missense	possibly damaging	0.83
X0013:Sez6	UTSW	11	77,845,606 (GRCm39)	missense	probably benign	0.01
X0067:Sez6	UTSW	11	77,865,264 (GRCm39)	critical splice acceptor site	probably null
Z1088:Sez6	UTSW	11	77,864,023 (GRCm39)	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