Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02161:Sesn2'

282485

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 #

IGL02161

Quality Score

Status

Chromosome

Chromosomal Location

132220115-132237767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132224229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 393 (I393N)

Ref Sequence

ENSEMBL: ENSMUSP00000030724 (fasta)

Gene Model

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

AlphaFold

P58043

Predicted Effect

probably damaging
Transcript: ENSMUST00000030724
AA Change: I393N

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

SMART Domains

Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: I393N

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

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
Abcb5	A	T	12: 118,838,490 (GRCm39)	V1024D	probably benign	Het
Alox5	T	A	6: 116,400,154 (GRCm39)	M262L	probably benign	Het
Arid5b	T	C	10: 67,932,498 (GRCm39)	T1135A	probably benign	Het
Ascc3	T	A	10: 50,726,623 (GRCm39)	Y2177*	probably null	Het
Birc6	A	C	17: 74,855,832 (GRCm39)	H214P	probably damaging	Het
Catsperb	T	A	12: 101,375,674 (GRCm39)		probably benign	Het
Ccr1l1	G	A	9: 123,778,000 (GRCm39)	T149I	possibly damaging	Het
Cfap57	T	G	4: 118,436,569 (GRCm39)	R942S	possibly damaging	Het
Crocc	G	A	4: 140,761,302 (GRCm39)	A941V	probably benign	Het
Csde1	A	G	3: 102,957,654 (GRCm39)	Q471R	probably damaging	Het
Csmd1	C	T	8: 16,408,426 (GRCm39)	V380I	probably damaging	Het
Dhx8	A	T	11: 101,648,432 (GRCm39)	Q857L	probably damaging	Het
Eftud2	A	G	11: 102,745,702 (GRCm39)		probably benign	Het
Fat3	C	A	9: 15,908,346 (GRCm39)	R2552I	probably benign	Het
Fat3	T	A	9: 15,908,347 (GRCm39)	R2552*	probably null	Het
Fbln7	A	T	2: 128,731,711 (GRCm39)	K166I	probably benign	Het
Glrx2	C	T	1: 143,615,421 (GRCm39)	S8L	possibly damaging	Het
Grin2d	T	G	7: 45,503,846 (GRCm39)	I630L	possibly damaging	Het
Gsap	T	A	5: 21,458,377 (GRCm39)	W423R	probably damaging	Het
Kifc2	A	G	15: 76,550,245 (GRCm39)	E468G	probably damaging	Het
Kpnb1	A	G	11: 97,059,762 (GRCm39)	S566P	probably benign	Het
Lemd2	A	G	17: 27,409,625 (GRCm39)	S509P	probably damaging	Het
Lepr	T	C	4: 101,602,875 (GRCm39)	F221S	probably damaging	Het
Nynrin	T	C	14: 56,101,441 (GRCm39)	F370S	probably damaging	Het
Or51a10	C	A	7: 103,698,797 (GRCm39)	V255L	possibly damaging	Het
Pcdhb15	T	A	18: 37,608,555 (GRCm39)	S596T	possibly damaging	Het
Prkcq	G	T	2: 11,281,887 (GRCm39)	S472I	probably benign	Het
Rabgef1	T	C	5: 130,235,940 (GRCm39)		probably benign	Het
Rnd3	C	T	2: 51,024,088 (GRCm39)	V164M	probably benign	Het
Rtn4rl1	G	A	11: 75,156,666 (GRCm39)	R366Q	probably damaging	Het
St8sia2	T	C	7: 73,626,430 (GRCm39)	N46S	probably benign	Het
Svopl	A	G	6: 38,013,750 (GRCm39)		probably benign	Het
Tbr1	C	T	2: 61,635,583 (GRCm39)	Q178*	probably null	Het
Vax2	T	C	6: 83,714,885 (GRCm39)	S267P	probably damaging	Het
Vmn1r47	T	A	6: 89,999,298 (GRCm39)	Y143*	probably null	Het
Vmn2r28	A	G	7: 5,491,123 (GRCm39)	S375P	possibly damaging	Het
Vmn2r44	A	T	7: 8,380,814 (GRCm39)	Y360N	possibly damaging	Het
Zc3h6	G	A	2: 128,835,146 (GRCm39)	S94N	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
IGL01800:Sesn2	APN	4	132,226,418 (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

2015-04-16