Mutagenetix > Incidental Mutations

Incidental Mutation 'R7289:Sez6'

566256

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

D11Bhm177e, sez-6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77930800-77979048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77974323 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 632 (I632N)

Ref Sequence

ENSEMBL: ENSMUSP00000091532 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000646
AA Change: I632N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: I632N

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

possibly damaging
Transcript: ENSMUST00000093995
AA Change: I632N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: I632N

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

SMART Domains

Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: I259N

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

possibly damaging
Transcript: ENSMUST00000151982
AA Change: S447T

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
AA Change: S447T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,972,379	T571S	probably benign	Het
1700022I11Rik	A	T	4: 42,973,252	I862F	possibly damaging	Het
4930563D23Rik	T	C	16: 92,320,822	I193V	probably damaging	Het
Aars2	G	A	17: 45,507,624	D112N	probably damaging	Het
Abca7	T	A	10: 80,009,944	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,865,059	D234G	probably damaging	Het
Agap1	T	A	1: 89,455,431	M1K	probably null	Het
Agrn	A	T	4: 156,178,932	L345H	probably damaging	Het
Amfr	A	G	8: 93,999,126	M209T	possibly damaging	Het
Angel2	G	A	1: 190,941,174	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,631,249	A866V	probably damaging	Het
Apc	G	A	18: 34,315,271	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,256,937	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,256,938	S739T	probably benign	Het
Arhgef2	C	T	3: 88,635,885	S418L	probably benign	Het
Arhgef25	T	C	10: 127,183,772	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,650,414	S328F	probably benign	Het
Bahcc1	C	T	11: 120,280,174	A1514V	probably benign	Het
Calcoco2	C	T	11: 96,099,997	E305K	unknown	Het
Cdc42bpa	A	T	1: 180,061,797	K203*	probably null	Het
Cmc1	A	T	9: 118,075,182	I47N	possibly damaging	Het
Cntln	A	G	4: 85,046,303	E656G	possibly damaging	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dcun1d3	T	C	7: 119,859,641	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,648,611	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,612,038	R367Q	probably damaging	Het
Desi2	A	T	1: 178,256,136		probably benign	Het
Dido1	T	C	2: 180,659,631	D2160G	unknown	Het
Epb41	A	G	4: 131,991,209		probably null	Het
Esrrb	T	A	12: 86,470,557		probably null	Het
Fabp1	C	A	6: 71,203,127	T94N	probably benign	Het
Fam120a	A	T	13: 48,892,006	C785S	probably damaging	Het
Foxc1	A	G	13: 31,807,260	Y18C	probably damaging	Het
Fshr	T	C	17: 88,985,844	T469A	probably benign	Het
Gm11639	T	C	11: 105,038,358	M4838T	probably benign	Het
Gm14399	T	A	2: 175,130,411	H517L	unknown	Het
Gm39115	G	T	7: 142,135,560	Q159K	unknown	Het
Gm7347	T	A	5: 26,057,308	I72F	possibly damaging	Het
Gm9573	G	A	17: 35,618,869	A1475V	unknown	Het
Hmcn1	A	G	1: 150,683,715	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,859,238	T88P	probably damaging	Het
Insm2	T	A	12: 55,600,544	Y358N	probably damaging	Het
Kazn	A	T	4: 142,117,175	L409Q		Het
Kcnj5	A	C	9: 32,322,749	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,333,684	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,794,504	Y140H	probably benign	Het
Kif1bp	A	C	10: 62,566,116	C261W	probably damaging	Het
Krt25	C	T	11: 99,321,272	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,293	E290G	probably damaging	Het
Nr3c1	T	C	18: 39,414,601	T755A	probably benign	Het
Nr3c1	A	T	18: 39,422,733	I517N	probably benign	Het
Nxpe2	A	G	9: 48,323,039		probably null	Het
Oaz1	C	A	10: 80,826,839	T27K	possibly damaging	Het
Olfr1053	A	G	2: 86,315,025	M87T	probably benign	Het
Olfr1093	G	T	2: 86,786,690	C320F	probably benign	Het
Olfr1178	A	T	2: 88,391,706	H153L	probably damaging	Het
Olfr1336	T	A	7: 6,460,778	W90R	probably benign	Het
Olfr284	A	G	15: 98,340,062	V309A	probably damaging	Het
Olfr561	T	C	7: 102,775,427	I301T	probably damaging	Het
Pafah2	A	T	4: 134,419,997	K319M	probably damaging	Het
Pask	A	T	1: 93,331,587	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,189,913	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,490,647	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,690,423	I164F	probably damaging	Het
Phf1	T	C	17: 26,935,315	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,821,100	I212F	probably benign	Het
Pnkp	T	A	7: 44,858,690	W146R	probably damaging	Het
Prkcb	A	T	7: 122,544,687	I325F	probably benign	Het
Ptpn21	C	T	12: 98,704,191	D239N	probably benign	Het
Ptprb	A	G	10: 116,328,165	T626A	probably damaging	Het
Pttg1	T	C	11: 43,421,089	N180D	probably benign	Het
Raly	G	A	2: 154,861,854	R115Q	probably damaging	Het
Rims2	A	T	15: 39,437,718	M474L	probably benign	Het
Sash1	A	T	10: 8,730,196	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,738,081	L55*	probably null	Het
Sema6b	A	T	17: 56,125,573	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,986,502	G5E	unknown	Het
Sesn3	A	T	9: 14,276,552	M1L	probably benign	Het
Sgo2b	A	T	8: 63,941,158	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,344,213	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,287,012	W30R	probably benign	Het
Stk31	T	G	6: 49,438,459	V576G	probably benign	Het
Szt2	G	A	4: 118,375,878	T2297I	unknown	Het
Tmem208	T	C	8: 105,334,786	F148S	possibly damaging	Het
Tprgl	A	G	4: 154,160,574	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,160,071	N207K	probably damaging	Het
Ube2n	G	T	10: 95,541,750	K130N	probably benign	Het
Usp36	T	C	11: 118,273,529	Y384C	probably damaging	Het
Vcan	A	T	13: 89,692,733	L1564*	probably null	Het
Xkr6	A	T	14: 63,798,299	D283V	unknown	Het
Zfp654	T	C	16: 64,785,160	H352R	probably benign	Het
Zfp819	T	A	7: 43,617,082	C330S	probably damaging	Het
Zfp970	G	T	2: 177,475,293	C220F	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
R1929:Sez6	UTSW	11	77972932	missense	probably damaging	1.00
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
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
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'- ACCATATTGGAGAGGATGCGC -3'
(R):5'- AAGAGCTTGAAGTGGCCAC -3'

Sequencing Primer
(F):5'- TGGTGCTCTCTCCAAACT -3'
(R):5'- TGAGTATTGGCCCAGGACC -3'

Posted On

2019-06-26