Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01800:Sesn2'

155492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sesn2

Ensembl Gene

ENSMUSG00000028893

Gene Name

sestrin 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

IGL01800

Quality Score

Status

Chromosome

Chromosomal Location

132220115-132237767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132226418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 194 (L194I)

Ref Sequence

ENSEMBL: ENSMUSP00000030724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030724]

AlphaFold

P58043

Predicted Effect

probably damaging
Transcript: ENSMUST00000030724
AA Change: L194I

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

SMART Domains

Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: L194I

Domain	Start	End	E-Value	Type
Pfam:PA26	43	479	3.5e-199	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131733

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 member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse lung fibroblasts homozgyous for a gene trap allele exhibit increased cellular sensitivity to hydrogen peroxide, decreased proliferation, and increased apoptosis. [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
Abcc2	A	G	19: 43,772,734 (GRCm39)	Y48C	possibly damaging	Het
Acsm3	T	C	7: 119,373,866 (GRCm39)	S251P	possibly damaging	Het
Ano5	G	A	7: 51,222,823 (GRCm39)		probably null	Het
Ccdc65	C	T	15: 98,606,946 (GRCm39)	A51V	probably benign	Het
Cspg5	A	G	9: 110,080,218 (GRCm39)		probably benign	Het
Dhx30	A	G	9: 109,914,581 (GRCm39)	V935A	possibly damaging	Het
Disp3	T	A	4: 148,334,258 (GRCm39)	K1012*	probably null	Het
Dock2	T	C	11: 34,647,100 (GRCm39)	N18S	probably damaging	Het
Dst	A	T	1: 34,301,173 (GRCm39)	I1180F	probably damaging	Het
Elp2	A	G	18: 24,750,548 (GRCm39)	Y295C	probably benign	Het
Eml2	A	G	7: 18,935,122 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,878 (GRCm39)	T3177A	probably damaging	Het
Flrt2	A	T	12: 95,746,462 (GRCm39)	I267F	probably damaging	Het
Gm5611	T	G	9: 16,941,767 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,790,335 (GRCm39)		probably null	Het
Gucy1b2	T	C	14: 62,649,104 (GRCm39)	M476V	probably benign	Het
Jak2	A	G	19: 29,263,693 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,778,137 (GRCm39)	F85S	probably damaging	Het
Kcnu1	G	A	8: 26,427,528 (GRCm39)	V282M	probably damaging	Het
Lancl1	T	G	1: 67,060,029 (GRCm39)	E132A	probably benign	Het
Or4g7	T	C	2: 111,309,209 (GRCm39)	F27L	probably benign	Het
Or5b106	A	G	19: 13,123,993 (GRCm39)	F10S	probably damaging	Het
Pigm	G	A	1: 172,204,770 (GRCm39)	A169T	probably damaging	Het
Ppargc1a	A	G	5: 51,652,063 (GRCm39)	Y212H	probably damaging	Het
Ppp1r13l	A	T	7: 19,111,936 (GRCm39)		probably benign	Het
Pramel12	T	C	4: 143,145,650 (GRCm39)	L373P	probably damaging	Het
Rictor	T	C	15: 6,804,182 (GRCm39)	I554T	probably damaging	Het
Sbno1	G	A	5: 124,519,568 (GRCm39)		probably benign	Het
Slc26a2	A	T	18: 61,334,801 (GRCm39)	Y217*	probably null	Het
Sptbn5	G	T	2: 119,886,908 (GRCm39)		probably benign	Het
Tmem184a	A	T	5: 139,798,899 (GRCm39)	S17T	possibly damaging	Het
Trhr	T	C	15: 44,092,603 (GRCm39)	M280T	possibly damaging	Het
Ube2j1	A	T	4: 33,045,115 (GRCm39)	E129D	probably benign	Het
Ube4b	A	T	4: 149,415,951 (GRCm39)	S3T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,601 (GRCm39)	C710*	probably null	Het
Vmn2r82	C	T	10: 79,192,581 (GRCm39)	R53C	probably benign	Het
Zdhhc2	T	C	8: 40,917,284 (GRCm39)	L227P	probably damaging	Het
Zfp995	A	C	17: 22,099,972 (GRCm39)	H87Q	possibly damaging	Het

Other mutations in Sesn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Sesn2	APN	4	132,227,124 (GRCm39)	missense	probably benign	0.00
IGL01319:Sesn2	APN	4	132,227,278 (GRCm39)	splice site	probably benign
IGL01336:Sesn2	APN	4	132,226,678 (GRCm39)	missense	probably benign	0.00
IGL02161:Sesn2	APN	4	132,224,229 (GRCm39)	missense	probably damaging	1.00
IGL02882:Sesn2	APN	4	132,221,104 (GRCm39)	missense	probably benign	0.16
R1845:Sesn2	UTSW	4	132,224,381 (GRCm39)	nonsense	probably null
R4732:Sesn2	UTSW	4	132,221,902 (GRCm39)	missense	probably damaging	1.00
R4733:Sesn2	UTSW	4	132,221,902 (GRCm39)	missense	probably damaging	1.00
R5097:Sesn2	UTSW	4	132,224,209 (GRCm39)	missense	probably benign	0.12
R5261:Sesn2	UTSW	4	132,226,617 (GRCm39)	missense	probably damaging	1.00
R5385:Sesn2	UTSW	4	132,226,575 (GRCm39)	missense	probably damaging	0.99
R6011:Sesn2	UTSW	4	132,226,708 (GRCm39)	missense	probably damaging	1.00
R6224:Sesn2	UTSW	4	132,229,881 (GRCm39)	missense	probably benign	0.01
R6852:Sesn2	UTSW	4	132,221,113 (GRCm39)	missense	possibly damaging	0.70
R7224:Sesn2	UTSW	4	132,224,724 (GRCm39)	missense	probably benign	0.22
R7546:Sesn2	UTSW	4	132,227,154 (GRCm39)	missense	probably damaging	1.00
R7682:Sesn2	UTSW	4	132,224,200 (GRCm39)	missense	probably damaging	0.99
R8213:Sesn2	UTSW	4	132,225,364 (GRCm39)	missense	possibly damaging	0.65
R9041:Sesn2	UTSW	4	132,225,272 (GRCm39)	missense	probably benign	0.44
R9072:Sesn2	UTSW	4	132,224,195 (GRCm39)	critical splice donor site	probably null
R9073:Sesn2	UTSW	4	132,224,195 (GRCm39)	critical splice donor site	probably null
Z1176:Sesn2	UTSW	4	132,226,623 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04