Mutagenetix > Incidental Mutation

Incidental Mutation 'R0598:Sez6'

55175

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

sez-6, D11Bhm177e

MMRRC Submission

038787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77821626-77869874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77868647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 974 (D974Y)

Ref Sequence

ENSEMBL: ENSMUSP00000091532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000049167] [ENSMUST00000093995] [ENSMUST00000108360]

AlphaFold

Q7TSK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000646
AA Change: D961Y

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: D961Y

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 benign
Transcript: ENSMUST00000049167

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
Pfam:PHF12_MRG_bd	202	241	1.3e-21	PFAM
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	N/A	INTRINSIC
Blast:FHA	813	868	9e-34	BLAST
low complexity region	905	916	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093995
AA Change: D974Y

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: D974Y

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

probably benign
Transcript: ENSMUST00000108360

SMART Domains

Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
PDB:2L9S\|A	201	241	2e-20	PDB
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	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

noncoding transcript
Transcript: ENSMUST00000155087

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,681 (GRCm39)	E198D	possibly damaging	Het
Abca6	A	T	11: 110,087,980 (GRCm39)	I1049N	probably damaging	Het
Acly	A	T	11: 100,369,216 (GRCm39)	N1014K	probably damaging	Het
Aoc1l1	A	G	6: 48,952,471 (GRCm39)	E132G	probably benign	Het
Aph1c	A	T	9: 66,740,601 (GRCm39)	W42R	probably damaging	Het
Bptf	G	T	11: 106,963,791 (GRCm39)	T1738K	probably damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Cpt2	G	T	4: 107,764,135 (GRCm39)	T543N	probably damaging	Het
Cstdc7	T	A	18: 42,306,436 (GRCm39)	M1K	probably null	Het
Dnah9	T	C	11: 66,009,703 (GRCm39)	E728G	probably benign	Het
Itgbl1	A	G	14: 124,094,848 (GRCm39)	H167R	possibly damaging	Het
Kctd1	A	G	18: 15,140,822 (GRCm39)	V40A	probably damaging	Het
L3mbtl4	T	G	17: 68,766,768 (GRCm39)	D158E	probably benign	Het
Lrp8	A	C	4: 107,714,434 (GRCm39)	I603L	possibly damaging	Het
Lypd8l	G	A	11: 58,499,230 (GRCm39)	S196L	probably benign	Het
Mrps9	C	T	1: 42,944,577 (GRCm39)	T365I	probably damaging	Het
Or1a1	A	T	11: 74,086,658 (GRCm39)	T110S	possibly damaging	Het
Or1e1	G	T	11: 73,244,729 (GRCm39)	R50L	probably benign	Het
Or2y1d	A	G	11: 49,322,230 (GRCm39)	D309G	probably benign	Het
Padi1	C	A	4: 140,542,098 (GRCm39)	R608L	possibly damaging	Het
Pkhd1	A	T	1: 20,271,114 (GRCm39)	F3146L	probably damaging	Het
Rnf145	T	C	11: 44,439,770 (GRCm39)	S189P	probably damaging	Het
St3gal3	A	T	4: 117,964,829 (GRCm39)	L11Q	probably benign	Het
Syt14	T	C	1: 192,579,622 (GRCm39)	E554G	probably damaging	Het
Tectb	G	T	19: 55,178,018 (GRCm39)	E170*	probably null	Het
Themis2	A	T	4: 132,516,994 (GRCm39)	C169S	possibly damaging	Het
Tmem88b	A	T	4: 155,868,824 (GRCm39)	D141E	probably benign	Het
Uaca	T	A	9: 60,778,203 (GRCm39)	Y685*	probably null	Het
Vsnl1	T	C	12: 11,436,860 (GRCm39)	S40G	probably benign	Het
Vxn	T	G	1: 9,690,067 (GRCm39)	I98S	probably benign	Het
Wdr64	A	T	1: 175,633,465 (GRCm39)	Q905H	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
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
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'- TTTGCTTTCAGTTGCCAAGGCAC -3'
(R):5'- ACTTGGAGAAGAGCTGTCAAGCCC -3'

Sequencing Primer
(F):5'- AGGAGTGTACCTCTATTTTTCCAG -3'
(R):5'- GAGCTGTCAAGCCCAAATTATC -3'

Posted On

2013-07-11