Mutagenetix > Incidental Mutation

Incidental Mutation 'R3931:Sez6'

308473

Institutional Source

Beutler Lab

Gene Symbol

Sez6

Ensembl Gene

ENSMUSG00000000632

Gene Name

seizure related gene 6

Synonyms

sez-6, D11Bhm177e

MMRRC Submission

040918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77821626-77869874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77867708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 875 (I875T)

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: I875T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: I875T

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: I875T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: I875T

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

Meta Mutation Damage Score

0.5971

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (30/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	C	6: 92,811,420 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,348 (GRCm39)	L159P	probably damaging	Het
Ccnd2	A	G	6: 127,107,422 (GRCm39)	I249T	probably damaging	Het
Cerk	G	T	15: 86,039,311 (GRCm39)	C193*	probably null	Het
Chrna2	A	G	14: 66,387,216 (GRCm39)	E454G	probably benign	Het
Clnk	T	C	5: 38,925,412 (GRCm39)	T130A	probably benign	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dhx29	T	A	13: 113,095,499 (GRCm39)	V942E	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnai1	G	A	4: 41,604,229 (GRCm39)	C212Y	probably damaging	Het
Dpep1	A	G	8: 123,925,518 (GRCm39)	D57G	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Grm1	C	T	10: 10,595,622 (GRCm39)	A669T	probably benign	Het
Hsd3b3	C	T	3: 98,649,492 (GRCm39)	G277D	probably damaging	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lipo4	C	T	19: 33,480,619 (GRCm39)	V250I	probably benign	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Map3k9	A	G	12: 81,819,691 (GRCm39)	F188L	probably damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nsd2	A	G	5: 34,003,461 (GRCm39)	K185E	probably benign	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Oxct1	T	A	15: 4,066,601 (GRCm39)	N72K	possibly damaging	Het
Ptpn12	A	G	5: 21,206,321 (GRCm39)	I324T	probably benign	Het
Tpr	T	A	1: 150,311,655 (GRCm39)	V1811E	probably damaging	Het
Trpc4	A	G	3: 54,225,516 (GRCm39)	D871G	probably damaging	Het
Upf2	A	G	2: 6,051,821 (GRCm39)	E1161G	unknown	Het
Zp2	T	C	7: 119,731,580 (GRCm39)		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
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
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'- AAACCTGACACCTCGATTGCTG -3'
(R):5'- ACTCCTGCAGTGTCTTGGTG -3'

Sequencing Primer
(F):5'- GATTGCTGCCTGCCTGC -3'
(R):5'- GCATGGGCCAATGCTTCTAATTC -3'

Posted On

2015-04-17