Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Sez6l2'

84360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sez6l2

Ensembl Gene

ENSMUSG00000030683

Gene Name

seizure related 6 homolog like 2

Synonyms

Psk1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

126950563-126970606 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126961883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 447 (E447K)

Ref Sequence

ENSEMBL: ENSMUSP00000101939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000146017]

AlphaFold

Q4V9Z5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106332
AA Change: E447K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: E447K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	70	86	N/A	INTRINSIC
low complexity region	93	108	N/A	INTRINSIC
CUB	113	226	8.25e-4	SMART
CCP	230	285	3.75e-15	SMART
CUB	289	399	1.3e-3	SMART
CCP	404	463	8.9e-8	SMART
CUB	467	578	3.45e-14	SMART
CCP	584	639	1.18e-12	SMART
CCP	645	704	1.31e-14	SMART
CCP	711	768	2.76e-13	SMART
transmembrane domain	798	820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106333
AA Change: E507K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: E507K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	115	146	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
CUB	173	286	8.25e-4	SMART
CCP	290	345	3.75e-15	SMART
CUB	349	459	1.3e-3	SMART
CCP	464	523	8.9e-8	SMART
CUB	527	638	3.45e-14	SMART
CCP	644	699	1.18e-12	SMART
CCP	705	764	1.31e-14	SMART
CCP	771	828	2.76e-13	SMART
transmembrane domain	858	880	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106335
AA Change: E507K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: E507K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	115	146	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
CUB	173	286	8.25e-4	SMART
CCP	290	345	3.75e-15	SMART
CUB	349	459	1.3e-3	SMART
CCP	464	523	8.9e-8	SMART
CUB	527	638	3.45e-14	SMART
CCP	644	699	1.18e-12	SMART
CCP	705	764	1.31e-14	SMART
CCP	771	828	2.76e-13	SMART
transmembrane domain	845	867	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125669

Predicted Effect

probably benign
Transcript: ENSMUST00000146017

SMART Domains

Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	72	91	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dhx32	T	C	7: 133,748,977	I121M	possibly damaging	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het

Other mutations in Sez6l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Sez6l2	APN	7	126968216	missense	probably damaging	1.00
IGL02439:Sez6l2	APN	7	126968189	missense	probably damaging	0.99
IGL02752:Sez6l2	APN	7	126953733	missense	probably damaging	1.00
H8786:Sez6l2	UTSW	7	126961783	missense	possibly damaging	0.95
R0783:Sez6l2	UTSW	7	126967145	missense	possibly damaging	0.65
R0989:Sez6l2	UTSW	7	126959844	missense	probably damaging	1.00
R1148:Sez6l2	UTSW	7	126961812	missense	probably damaging	1.00
R1148:Sez6l2	UTSW	7	126961812	missense	probably damaging	1.00
R1493:Sez6l2	UTSW	7	126961812	missense	probably damaging	1.00
R1509:Sez6l2	UTSW	7	126963363	missense	probably damaging	1.00
R1704:Sez6l2	UTSW	7	126958341	missense	probably damaging	1.00
R1817:Sez6l2	UTSW	7	126967119	missense	probably damaging	1.00
R1889:Sez6l2	UTSW	7	126953496	missense	probably damaging	1.00
R2509:Sez6l2	UTSW	7	126953772	missense	probably benign	0.31
R3772:Sez6l2	UTSW	7	126959203	missense	probably damaging	0.99
R4466:Sez6l2	UTSW	7	126959851	missense	probably damaging	0.97
R4869:Sez6l2	UTSW	7	126961842	missense	probably benign	0.02
R5155:Sez6l2	UTSW	7	126962373	missense	probably damaging	0.99
R5416:Sez6l2	UTSW	7	126961886	missense	probably damaging	1.00
R5551:Sez6l2	UTSW	7	126966830	missense	probably damaging	1.00
R5884:Sez6l2	UTSW	7	126970156	unclassified	probably benign
R5903:Sez6l2	UTSW	7	126970133	unclassified	probably benign
R6015:Sez6l2	UTSW	7	126953453	missense	probably damaging	0.97
R6726:Sez6l2	UTSW	7	126968005	missense	probably damaging	0.96
R7094:Sez6l2	UTSW	7	126952924	missense	probably damaging	0.99
R7117:Sez6l2	UTSW	7	126953743	missense	possibly damaging	0.94
R7228:Sez6l2	UTSW	7	126953725	missense	probably damaging	1.00
R7479:Sez6l2	UTSW	7	126963659	missense	probably damaging	1.00
R7502:Sez6l2	UTSW	7	126961743	missense	probably benign	0.26
R8321:Sez6l2	UTSW	7	126958416	missense	probably damaging	0.99
Z1176:Sez6l2	UTSW	7	126958331	missense	probably damaging	0.98

Posted On

2013-11-11