Mutagenetix > Incidental Mutation

Incidental Mutation 'R6011:Sesn2'

479746

Institutional Source

Beutler Lab

Gene Symbol

Sesn2

Ensembl Gene

ENSMUSG00000028893

Gene Name

sestrin 2

Synonyms

MMRRC Submission

043253-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R6011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132220115-132237767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132226708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 129 (V129M)

Ref Sequence

ENSEMBL: ENSMUSP00000030724 (fasta)

Gene Model

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

AlphaFold

P58043

Predicted Effect

probably damaging
Transcript: ENSMUST00000030724
AA Change: V129M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030724
Gene: ENSMUSG00000028893
AA Change: V129M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131733

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,570 (GRCm39)	N533K	probably benign	Het
Adamts15	G	T	9: 30,814,082 (GRCm39)	H694Q	probably damaging	Het
Adcy5	T	C	16: 34,977,598 (GRCm39)	L377P	probably benign	Het
Add2	T	C	6: 86,075,607 (GRCm39)	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Ankrd13d	A	G	19: 4,331,962 (GRCm39)	L39P	probably damaging	Het
Asic1	G	T	15: 99,596,960 (GRCm39)	A541S	probably benign	Het
Bhmt1b	A	G	18: 87,774,663 (GRCm39)	E62G	probably damaging	Het
Bpifb2	A	G	2: 153,731,496 (GRCm39)		probably null	Het
Catsper3	A	G	13: 55,934,305 (GRCm39)	I75M	probably damaging	Het
Ccser2	T	C	14: 36,601,532 (GRCm39)	E837G	probably benign	Het
Clasp2	C	T	9: 113,705,315 (GRCm39)	P557L	probably benign	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Cplx3	A	T	9: 57,523,038 (GRCm39)	D140E	probably damaging	Het
Cyp2c66	A	G	19: 39,130,380 (GRCm39)	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,738,084 (GRCm39)		probably null	Het
Disp2	G	A	2: 118,621,301 (GRCm39)	V678I	possibly damaging	Het
Dock4	T	C	12: 40,867,756 (GRCm39)		probably null	Het
Eml3	T	C	19: 8,916,471 (GRCm39)	Y688H	probably damaging	Het
Fam187a	A	G	11: 102,776,267 (GRCm39)	K24E	probably damaging	Het
Fhit	T	C	14: 9,870,068 (GRCm38)	K134E	probably benign	Het
Foxl3	A	G	5: 138,807,374 (GRCm39)	*217W	probably null	Het
Gm16485	A	T	9: 8,972,454 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hmgxb3	G	A	18: 61,296,096 (GRCm39)	T304I	probably damaging	Het
Lgsn	A	G	1: 31,242,847 (GRCm39)	S310G	probably damaging	Het
Muc21	T	A	17: 35,933,074 (GRCm39)		probably benign	Het
Niban2	T	C	2: 32,812,877 (GRCm39)	Y482H	probably damaging	Het
Or12e13	A	G	2: 87,664,259 (GRCm39)	N292S	probably damaging	Het
Or4k42	C	A	2: 111,320,192 (GRCm39)	A104S	probably benign	Het
Or6c8b	A	T	10: 128,882,508 (GRCm39)	H141Q	probably benign	Het
Or7g25	T	A	9: 19,159,807 (GRCm39)	E296V	probably damaging	Het
Or9i1b	G	A	19: 13,896,521 (GRCm39)	V46I	probably benign	Het
Pelo	A	G	13: 115,226,302 (GRCm39)	S52P	probably benign	Het
Prune2	A	G	19: 17,096,080 (GRCm39)	N528S	probably benign	Het
Rfc3	T	A	5: 151,567,184 (GRCm39)	I291L	probably damaging	Het
Rpl35	A	T	2: 38,894,813 (GRCm39)		probably null	Het
Sectm1b	C	T	11: 120,946,704 (GRCm39)	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,001,993 (GRCm39)	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,823,728 (GRCm39)	D195V	probably damaging	Het
Slc4a1	A	C	11: 102,243,357 (GRCm39)	V758G	probably damaging	Het
Tmx4	A	T	2: 134,481,756 (GRCm39)	Y56N	probably damaging	Het
Traj50	T	C	14: 54,405,091 (GRCm39)		probably benign	Het
Trio	T	G	15: 27,735,631 (GRCm39)	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,434,309 (GRCm39)	G2417S	probably benign	Het
Usp32	T	C	11: 84,922,923 (GRCm39)	D665G	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCAGCAAGGCCTGGAAG -3'
(R):5'- TGAAGAGAAGCGTCTTTAGGTG -3'

Sequencing Primer
(F):5'- AACCCACTCGGCGGTTG -3'
(R):5'- TTTTGCAAATGAAGACAGTGAGGTG -3'

Posted On

2017-06-26