Mutagenetix > Incidental Mutation

Incidental Mutation 'R1117:Sez6'

97440

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

sez-6, D11Bhm177e

MMRRC Submission

039190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77821626-77869874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77865340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 659 (Y659C)

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: Y659C

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

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: Y659C

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: Y659C

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

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: Y659C

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

probably benign
Transcript: ENSMUST00000140630

SMART Domains

Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632

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

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,344,487 (GRCm39)	T353I	probably benign	Het
Arpc1b	T	C	5: 145,062,564 (GRCm39)	V226A	possibly damaging	Het
Casz1	C	A	4: 149,019,052 (GRCm39)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,321,085 (GRCm39)	V327M	probably benign	Het
Cntrl	A	G	2: 35,017,985 (GRCm39)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,260 (GRCm39)	D412G	probably benign	Het
Crispld1	T	A	1: 17,819,846 (GRCm39)	N281K	probably benign	Het
Cul3	T	C	1: 80,258,641 (GRCm39)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,700,903 (GRCm39)	T305M	probably damaging	Het
Elp4	T	C	2: 105,672,656 (GRCm39)	D143G	probably benign	Het
Etnppl	A	G	3: 130,428,212 (GRCm39)	I462M	probably benign	Het
Fmo4	A	G	1: 162,631,232 (GRCm39)	V245A	probably benign	Het
Gm4076	A	G	13: 85,275,437 (GRCm39)		noncoding transcript	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,096,484 (GRCm39)	M8I	probably benign	Het
Klk1b22	A	T	7: 43,766,283 (GRCm39)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,953,309 (GRCm39)	I530K	possibly damaging	Het
Muc21	T	C	17: 35,930,920 (GRCm39)		probably benign	Het
Nid2	A	C	14: 19,813,732 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,058 (GRCm39)	F123S	probably damaging	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or9e1	A	G	11: 58,732,641 (GRCm39)	K234E	possibly damaging	Het
Peak1	G	A	9: 56,165,702 (GRCm39)	T742M	probably benign	Het
Sel1l3	T	A	5: 53,329,949 (GRCm39)	T469S	probably benign	Het
Slc19a2	A	T	1: 164,091,025 (GRCm39)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,707,717 (GRCm39)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Umod	T	C	7: 119,076,529 (GRCm39)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,923,382 (GRCm39)	T43A	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
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
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'- CAAGCGCATCATGCTGGACATC -3'
(R):5'- GCTTTGGCTCTACTCTCAGAAGCAC -3'

Sequencing Primer
(F):5'- ATCATGCTGGACATCCGAGTG -3'
(R):5'- CCAAAGTCTCCTGGTGATACATGG -3'

Posted On

2014-01-05