Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Sesn1'

479096

Institutional Source

Beutler Lab

Gene Symbol

Sesn1

Ensembl Gene

ENSMUSG00000038332

Gene Name

sestrin 1

Synonyms

SEST1, 1110002G11Rik, PA26

MMRRC Submission

044196-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41686570-41784432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41772196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 242 (I242F)

Ref Sequence

ENSEMBL: ENSMUSP00000097515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041438] [ENSMUST00000099931]

AlphaFold

P58006

Predicted Effect

probably damaging
Transcript: ENSMUST00000041438
AA Change: I183F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043034
Gene: ENSMUSG00000038332
AA Change: I183F

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:PA26	45	492	5.4e-227	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099931
AA Change: I242F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097515
Gene: ENSMUSG00000038332
AA Change: I242F

Domain	Start	End	E-Value	Type
Pfam:PA26	106	550	1.2e-212	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214835

Meta Mutation Damage Score

0.6906

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a kncok-out allele exhibit enhanced responsiveness to an influenza vaccine in aged mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,535,417 (GRCm39)	I267T	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Avpr1a	A	G	10: 122,285,053 (GRCm39)	Y115C	probably damaging	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,095,567 (GRCm39)	N65I	probably damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Skint3	T	C	4: 112,147,543 (GRCm39)	F350S	possibly damaging	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,814,498 (GRCm39)	S1981P	probably damaging	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	probably benign	Het

Other mutations in Sesn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Sesn1	APN	10	41,774,321 (GRCm39)	missense	probably damaging	1.00
IGL01766:Sesn1	APN	10	41,774,365 (GRCm39)	missense	probably benign	0.00
R1103:Sesn1	UTSW	10	41,778,589 (GRCm39)	missense	possibly damaging	0.94
R1557:Sesn1	UTSW	10	41,779,762 (GRCm39)	missense	probably damaging	1.00
R1587:Sesn1	UTSW	10	41,687,108 (GRCm39)	missense	probably benign
R2177:Sesn1	UTSW	10	41,779,778 (GRCm39)	missense	possibly damaging	0.73
R2437:Sesn1	UTSW	10	41,781,315 (GRCm39)	missense	probably damaging	1.00
R3915:Sesn1	UTSW	10	41,770,886 (GRCm39)	missense	probably benign	0.13
R4965:Sesn1	UTSW	10	41,771,005 (GRCm39)	missense	probably damaging	1.00
R5141:Sesn1	UTSW	10	41,687,097 (GRCm39)	missense	probably benign
R5257:Sesn1	UTSW	10	41,770,984 (GRCm39)	missense	probably benign	0.03
R5258:Sesn1	UTSW	10	41,770,984 (GRCm39)	missense	probably benign	0.03
R5639:Sesn1	UTSW	10	41,687,267 (GRCm39)	missense	probably benign
R5899:Sesn1	UTSW	10	41,687,189 (GRCm39)	missense	probably benign
R6310:Sesn1	UTSW	10	41,772,074 (GRCm39)	missense	probably damaging	1.00
R7181:Sesn1	UTSW	10	41,779,724 (GRCm39)	missense	possibly damaging	0.84
R7770:Sesn1	UTSW	10	41,770,054 (GRCm39)	missense	probably damaging	1.00
R7909:Sesn1	UTSW	10	41,687,112 (GRCm39)	missense	probably benign	0.03
R7996:Sesn1	UTSW	10	41,770,929 (GRCm39)	nonsense	probably null
R8728:Sesn1	UTSW	10	41,779,771 (GRCm39)	missense	probably damaging	1.00
R9032:Sesn1	UTSW	10	41,686,835 (GRCm39)	unclassified	probably benign
R9085:Sesn1	UTSW	10	41,686,835 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCATCAGTGTTCCTACCTG -3'
(R):5'- TTAGAAACCAGCAGTTGTGGG -3'

Sequencing Primer
(F):5'- CTACCTGGTGAATCTGCATGTCAG -3'
(R):5'- GCAGTGTCATCAACATTGGC -3'

Posted On

2017-06-26