Mutagenetix > Incidental Mutation

Incidental Mutation 'R3156:Sez6'

263506

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

sez-6, D11Bhm177e

MMRRC Submission

040607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77821626-77869874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77844605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 143 (S143T)

Ref Sequence

ENSEMBL: ENSMUSP00000091532 (fasta)

Gene Model

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

AlphaFold

Q7TSK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000646
AA Change: S143T

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: S143T

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: S143T

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: S143T

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: ENSMUST00000138346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142542

Predicted Effect

probably benign
Transcript: ENSMUST00000151982

SMART Domains

Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632

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

0.0716

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (39/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Adra2b	T	C	2: 127,205,570 (GRCm39)	L29P	probably damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Atad1	A	T	19: 32,684,355 (GRCm39)	N14K	probably benign	Het
Cbl	T	C	9: 44,070,147 (GRCm39)	I533M	possibly damaging	Het
Cdca2	T	C	14: 67,935,612 (GRCm39)	N368D	possibly damaging	Het
Cfap45	A	T	1: 172,373,291 (GRCm39)	N543Y	possibly damaging	Het
Col4a2	T	A	8: 11,363,414 (GRCm39)		probably benign	Het
Dis3l	T	C	9: 64,219,032 (GRCm39)	T633A	probably benign	Het
Dnah5	G	A	15: 28,438,237 (GRCm39)		probably benign	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gcnt2	T	C	13: 41,014,654 (GRCm39)	V275A	probably benign	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
Hmgcs1	C	T	13: 120,166,614 (GRCm39)	T402I	probably benign	Het
Hps6	A	G	19: 45,992,180 (GRCm39)	D39G	probably damaging	Het
Mab21l4	T	A	1: 93,087,764 (GRCm39)	I30F	possibly damaging	Het
Mycbp2	A	T	14: 103,446,179 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Neo1	T	C	9: 58,796,262 (GRCm39)		probably null	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or7g27	A	G	9: 19,250,720 (GRCm39)		probably null	Het
Patj	A	G	4: 98,562,465 (GRCm39)	E1478G	probably damaging	Het
Paxbp1	T	C	16: 90,832,878 (GRCm39)	T304A	probably benign	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Secisbp2	A	G	13: 51,816,711 (GRCm39)	T288A	probably benign	Het
Setbp1	A	G	18: 78,902,518 (GRCm39)	V383A	probably benign	Het
Slc5a9	A	T	4: 111,747,421 (GRCm39)	I322N	possibly damaging	Het
Szt2	A	G	4: 118,260,016 (GRCm39)		probably null	Het
Tex2	A	G	11: 106,424,695 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,523,721 (GRCm39)	L64Q	probably damaging	Het
Triml2	A	G	8: 43,640,716 (GRCm39)	N191D	probably benign	Het
Trpc1	C	T	9: 95,603,185 (GRCm39)		probably null	Het
Yeats4	C	T	10: 117,058,186 (GRCm39)	V22I	probably benign	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
R1929:Sez6	UTSW	11	77,863,758 (GRCm39)	missense	probably damaging	1.00
R1970:Sez6	UTSW	11	77,844,894 (GRCm39)	critical splice donor site	probably null
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'- CCACCCACTTCTGGAAGAATTTC -3'
(R):5'- CCTGTGGTCTTAGACATGACCTC -3'

Sequencing Primer
(F):5'- TTTCTTCAAGAGGGGCTAGAAAG -3'
(R):5'- GGTCTTAGACATGACCTCTGGAAC -3'

Posted On

2015-02-05