Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Sez6l2'

427733

Institutional Source

Beutler Lab

Gene Symbol

Sez6l2

Ensembl Gene

ENSMUSG00000030683

Gene Name

seizure related 6 homolog like 2

Synonyms

Psk1

MMRRC Submission

042985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126549735-126569778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126561058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 448 (C448S)

Ref Sequence

ENSEMBL: ENSMUSP00000101939 (fasta)

Gene Model

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

AlphaFold

Q4V9Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000106332
AA Change: C448S

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

SMART Domains

Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: C448S

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 damaging
Transcript: ENSMUST00000106333
AA Change: C508S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: C508S

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 damaging
Transcript: ENSMUST00000106335
AA Change: C508S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: C508S

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,871,331 (GRCm39)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,526,466 (GRCm39)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,642,747 (GRCm39)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Serpina1f	T	A	12: 103,660,203 (GRCm39)	K26N	possibly damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	Het

Other mutations in Sez6l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Sez6l2	APN	7	126,561,055 (GRCm39)	missense	possibly damaging	0.91
IGL01710:Sez6l2	APN	7	126,567,388 (GRCm39)	missense	probably damaging	1.00
IGL02439:Sez6l2	APN	7	126,567,361 (GRCm39)	missense	probably damaging	0.99
IGL02752:Sez6l2	APN	7	126,552,905 (GRCm39)	missense	probably damaging	1.00
H8786:Sez6l2	UTSW	7	126,560,955 (GRCm39)	missense	possibly damaging	0.95
R0783:Sez6l2	UTSW	7	126,566,317 (GRCm39)	missense	possibly damaging	0.65
R0989:Sez6l2	UTSW	7	126,559,016 (GRCm39)	missense	probably damaging	1.00
R1148:Sez6l2	UTSW	7	126,560,984 (GRCm39)	missense	probably damaging	1.00
R1148:Sez6l2	UTSW	7	126,560,984 (GRCm39)	missense	probably damaging	1.00
R1493:Sez6l2	UTSW	7	126,560,984 (GRCm39)	missense	probably damaging	1.00
R1509:Sez6l2	UTSW	7	126,562,535 (GRCm39)	missense	probably damaging	1.00
R1704:Sez6l2	UTSW	7	126,557,513 (GRCm39)	missense	probably damaging	1.00
R1817:Sez6l2	UTSW	7	126,566,291 (GRCm39)	missense	probably damaging	1.00
R1889:Sez6l2	UTSW	7	126,552,668 (GRCm39)	missense	probably damaging	1.00
R2509:Sez6l2	UTSW	7	126,552,944 (GRCm39)	missense	probably benign	0.31
R3772:Sez6l2	UTSW	7	126,558,375 (GRCm39)	missense	probably damaging	0.99
R4466:Sez6l2	UTSW	7	126,559,023 (GRCm39)	missense	probably damaging	0.97
R4869:Sez6l2	UTSW	7	126,561,014 (GRCm39)	missense	probably benign	0.02
R5155:Sez6l2	UTSW	7	126,561,545 (GRCm39)	missense	probably damaging	0.99
R5551:Sez6l2	UTSW	7	126,566,002 (GRCm39)	missense	probably damaging	1.00
R5884:Sez6l2	UTSW	7	126,569,328 (GRCm39)	unclassified	probably benign
R5903:Sez6l2	UTSW	7	126,569,305 (GRCm39)	unclassified	probably benign
R6015:Sez6l2	UTSW	7	126,552,625 (GRCm39)	missense	probably damaging	0.97
R6726:Sez6l2	UTSW	7	126,567,177 (GRCm39)	missense	probably damaging	0.96
R7094:Sez6l2	UTSW	7	126,552,096 (GRCm39)	missense	probably damaging	0.99
R7117:Sez6l2	UTSW	7	126,552,915 (GRCm39)	missense	possibly damaging	0.94
R7228:Sez6l2	UTSW	7	126,552,897 (GRCm39)	missense	probably damaging	1.00
R7479:Sez6l2	UTSW	7	126,562,831 (GRCm39)	missense	probably damaging	1.00
R7502:Sez6l2	UTSW	7	126,560,915 (GRCm39)	missense	probably benign	0.26
R8321:Sez6l2	UTSW	7	126,557,588 (GRCm39)	missense	probably damaging	0.99
Z1176:Sez6l2	UTSW	7	126,557,503 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATGAGTCCCTGAGATCTGTC -3'
(R):5'- GCCTTTTGGGTCTAAGCCTG -3'

Sequencing Primer
(F):5'- CATGAGTCCCTGAGATCTGTCTAATG -3'
(R):5'- GGGTCTAAGCCTGAATTCATAACAAG -3'

Posted On

2016-09-01