Mutagenetix > Incidental Mutation

Incidental Mutation 'R1817:Sez6l2'

204503

Institutional Source

Beutler Lab

Gene Symbol

Sez6l2

Ensembl Gene

ENSMUSG00000030683

Gene Name

seizure related 6 homolog like 2

Synonyms

Psk1

MMRRC Submission

039845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1817 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

126549735-126569778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126566291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 741 (E741G)

Ref Sequence

ENSEMBL: ENSMUSP00000101939 (fasta)

Gene Model

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

AlphaFold

Q4V9Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000106332
AA Change: E741G

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

SMART Domains

Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: E741G

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

possibly damaging
Transcript: ENSMUST00000106333
AA Change: E801G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: E801G

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

possibly damaging
Transcript: ENSMUST00000106335
AA Change: E801G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: E801G

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

noncoding transcript
Transcript: ENSMUST00000134471

Predicted Effect

probably benign
Transcript: ENSMUST00000155138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180704

Meta Mutation Damage Score

0.2691

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (90/95)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,144 (GRCm39)	S600T	probably benign	Het
Acly	T	A	11: 100,386,717 (GRCm39)	Q615L	probably benign	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afg3l1	G	T	8: 124,228,670 (GRCm39)	K745N	probably damaging	Het
Armc8	T	C	9: 99,418,312 (GRCm39)	T39A	possibly damaging	Het
Atm	C	A	9: 53,403,533 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,214,890 (GRCm39)	T324A	probably damaging	Het
Btd	C	A	14: 31,384,246 (GRCm39)	D77E	possibly damaging	Het
Cadm1	T	A	9: 47,740,668 (GRCm39)		probably benign	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccni	G	T	5: 93,335,967 (GRCm39)	T144K	possibly damaging	Het
Ceacam23	C	T	7: 17,607,255 (GRCm39)		noncoding transcript	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cgas	A	G	9: 78,341,593 (GRCm39)		probably null	Het
Cpsf7	T	C	19: 10,512,803 (GRCm39)	F296L	possibly damaging	Het
Cyfip1	C	A	7: 55,523,196 (GRCm39)	N70K	possibly damaging	Het
Cyp4a12b	A	G	4: 115,271,259 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,585,896 (GRCm39)	Y816*	probably null	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dgat1	T	A	15: 76,386,703 (GRCm39)	M445L	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dnmt1	T	C	9: 20,838,422 (GRCm39)	T215A	probably benign	Het
Dsg4	C	T	18: 20,604,302 (GRCm39)	T923M	probably damaging	Het
Enox1	A	G	14: 77,852,915 (GRCm39)	I394V	possibly damaging	Het
Esrp2	A	T	8: 106,861,250 (GRCm39)	M183K	probably damaging	Het
Fam171a1	C	T	2: 3,179,410 (GRCm39)	P79S	probably benign	Het
Fga	A	G	3: 82,939,082 (GRCm39)	T486A	probably benign	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Fnip1	A	G	11: 54,393,279 (GRCm39)	T572A	probably benign	Het
Fxn	A	C	19: 24,257,765 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,175,324 (GRCm39)	Q901*	probably null	Het
Gabrg1	A	G	5: 70,911,594 (GRCm39)	M344T	probably benign	Het
Galnt7	C	T	8: 57,991,212 (GRCm39)	V433M	probably damaging	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Hydin	A	C	8: 111,259,459 (GRCm39)	D2477A	probably benign	Het
Igsf6	T	C	7: 120,670,031 (GRCm39)	Y37C	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kif3a	T	C	11: 53,489,561 (GRCm39)	Y138H	probably damaging	Het
Klra17	A	G	6: 129,845,681 (GRCm39)		probably null	Het
Lcorl	A	T	5: 45,952,688 (GRCm39)	I55N	probably damaging	Het
Lrrc49	A	G	9: 60,510,059 (GRCm39)	S398P	possibly damaging	Het
Ltv1	A	G	10: 13,055,018 (GRCm39)	L384S	probably damaging	Het
Mageb3	A	T	2: 121,784,918 (GRCm39)	Y261*	probably null	Het
Mical3	T	G	6: 121,019,196 (GRCm39)	T9P	probably benign	Het
Myrip	C	T	9: 120,217,228 (GRCm39)	S49L	probably damaging	Het
Nrap	T	C	19: 56,372,487 (GRCm39)		probably benign	Het
Or2m12	T	C	16: 19,104,627 (GRCm39)	N289D	probably damaging	Het
Or4k5	A	G	14: 50,385,728 (GRCm39)	V201A	probably benign	Het
Otoa	A	T	7: 120,759,753 (GRCm39)		probably benign	Het
Pals2	T	G	6: 50,140,411 (GRCm39)	F144V	probably benign	Het
Parp11	T	A	6: 127,467,008 (GRCm39)	I133N	probably damaging	Het
Pcnx1	A	G	12: 81,965,416 (GRCm39)	T528A	probably benign	Het
Pde4c	A	G	8: 71,179,638 (GRCm39)	H63R	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Pdzd7	A	T	19: 45,024,615 (GRCm39)	M468K	probably damaging	Het
Perm1	C	A	4: 156,303,061 (GRCm39)	P535Q	possibly damaging	Het
Pgap1	C	A	1: 54,575,128 (GRCm39)	A265S	probably benign	Het
Pik3c2a	A	T	7: 115,975,747 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,957,562 (GRCm39)	T491A	possibly damaging	Het
Pms1	A	T	1: 53,246,128 (GRCm39)	D470E	probably benign	Het
Prf1	C	A	10: 61,138,762 (GRCm39)	T240N	probably damaging	Het
Prune2	A	G	19: 17,099,445 (GRCm39)	T1650A	probably benign	Het
Ptprf	A	G	4: 118,080,462 (GRCm39)	L1264P	probably benign	Het
Ptprs	A	G	17: 56,726,527 (GRCm39)	S948P	probably damaging	Het
Rapgef1	T	C	2: 29,576,268 (GRCm39)	V117A	probably damaging	Het
Rnf123	A	G	9: 107,940,125 (GRCm39)	V756A	probably benign	Het
Shc3	A	T	13: 51,626,888 (GRCm39)	I125K	possibly damaging	Het
Smr3a	A	T	5: 88,155,917 (GRCm39)		probably benign	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
St6gal1	A	T	16: 23,140,083 (GRCm39)	K85*	probably null	Het
Taf1b	T	G	12: 24,597,121 (GRCm39)	D353E	possibly damaging	Het
Tcp10b	C	T	17: 13,286,590 (GRCm39)	P180S	possibly damaging	Het
Tlr9	A	T	9: 106,102,142 (GRCm39)	M478L	probably benign	Het
Tpr	A	T	1: 150,295,654 (GRCm39)	E892D	probably damaging	Het
Trio	C	T	15: 27,742,581 (GRCm39)	W22*	probably null	Het
Usp14	A	G	18: 10,024,673 (GRCm39)	V8A	probably damaging	Het
Vmn2r19	A	T	6: 123,307,011 (GRCm39)	K506N	possibly damaging	Het
Vmn2r45	T	A	7: 8,475,372 (GRCm39)	N552I	probably damaging	Het
Vmn2r56	A	T	7: 12,449,542 (GRCm39)	M232K	probably benign	Het
Vps13b	T	A	15: 35,910,788 (GRCm39)	F3517L	possibly damaging	Het
Yif1a	C	T	19: 5,142,333 (GRCm39)	R247*	probably null	Het
Zbtb5	A	G	4: 44,993,767 (GRCm39)	V539A	probably benign	Het
Zfp180	G	A	7: 23,804,652 (GRCm39)	R357Q	probably damaging	Het
Zfp536	A	G	7: 37,268,042 (GRCm39)	L458P	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp970	C	T	2: 177,167,976 (GRCm39)	H517Y	probably damaging	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	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
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
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'- TCCCCAAATGCGCCTGTAAG -3'
(R):5'- CAGGGTCAGCCATTGTTCTC -3'

Sequencing Primer
(F):5'- CCAAATGCGCCTGTAAGTTTGG -3'
(R):5'- GGGTCAGCCATTGTTCTCGAATTC -3'

Posted On

2014-06-23