Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Sez6l2'

376411

Institutional Source

Beutler Lab

Gene Symbol

Sez6l2

Ensembl Gene

ENSMUSG00000030683

Gene Name

seizure related 6 homolog like 2

Synonyms

Psk1

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126549735-126569778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126561014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 433 (P433L)

Ref Sequence

ENSEMBL: ENSMUSP00000101939 (fasta)

Gene Model

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

AlphaFold

Q4V9Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000106332
AA Change: P433L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: P433L

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: P493L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: P493L

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: P493L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: P493L

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

Meta Mutation Damage Score

0.7052

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443 (GRCm39)	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	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
R5155:Sez6l2	UTSW	7	126,561,545 (GRCm39)	missense	probably damaging	0.99
R5416:Sez6l2	UTSW	7	126,561,058 (GRCm39)	missense	probably damaging	1.00
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'- GGGCCTAGCAATACCCAAATTC -3'
(R):5'- GCCCTGGGTTTCAATGTTTC -3'

Sequencing Primer
(F):5'- CATTGTAAATCCTCAACATGAGTCC -3'
(R):5'- CAATGTTTCCATGTTCGTGCACAATG -3'

Posted On

2016-03-17