Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Mest'

566313

Institutional Source

Beutler Lab

Gene Symbol

Mest

Ensembl Gene

ENSMUSG00000051855

Gene Name

mesoderm specific transcript

Synonyms

Peg1

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30723546-30748464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30747158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 340 (N340S)

Ref Sequence

ENSEMBL: ENSMUSP00000117713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048774] [ENSMUST00000115127] [ENSMUST00000124665] [ENSMUST00000147400] [ENSMUST00000151777] [ENSMUST00000157040] [ENSMUST00000163949] [ENSMUST00000166192]

AlphaFold

Q07646

Predicted Effect

probably benign
Transcript: ENSMUST00000048774

SMART Domains

Protein: ENSMUSP00000038368
Gene: ENSMUSG00000025607

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	23	539	2.6e-134	PFAM
Pfam:COP-gamma_platf	609	756	7.7e-66	PFAM
Pfam:Coatomer_g_Cpla	758	870	1.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115127

SMART Domains

Protein: ENSMUSP00000110780
Gene: ENSMUSG00000051855

Domain	Start	End	E-Value	Type
SCOP:d1qo7a_	23	107	3e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000124665
AA Change: N340S

SMART Domains

Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: N340S

Domain	Start	End	E-Value	Type
Pfam:DUF1057	50	183	3.9e-9	PFAM
Pfam:Abhydrolase_6	79	198	7.8e-21	PFAM
Pfam:Abhydrolase_1	104	191	4.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147400

SMART Domains

Protein: ENSMUSP00000120408
Gene: ENSMUSG00000051855

Domain	Start	End	E-Value	Type
Pfam:DUF1057	35	144	3.3e-9	PFAM
Pfam:Abhydrolase_6	64	145	3.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151777

SMART Domains

Protein: ENSMUSP00000115541
Gene: ENSMUSG00000051855

Domain	Start	End	E-Value	Type
SCOP:d1qo7a_	42	133	1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000157040
AA Change: N324S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: N324S

Domain	Start	End	E-Value	Type
Pfam:DUF1057	34	167	3.1e-9	PFAM
Pfam:Abhydrolase_6	63	182	6.2e-21	PFAM
Pfam:Abhydrolase_1	88	176	4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163949
AA Change: N333S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: N333S

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:DUF1057	43	176	7.1e-9	PFAM
Pfam:Abhydrolase_1	70	321	2.5e-16	PFAM
Pfam:Abhydrolase_5	71	315	5.9e-9	PFAM
Pfam:Abhydrolase_6	72	327	7.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166192

SMART Domains

Protein: ENSMUSP00000126726
Gene: ENSMUSG00000025607

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	23	380	6.5e-92	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retardation of embryonic growth and subtle cardiac abnormalities associated with reduced postnatal survival rates. Mutant females exhibit abnormal maternal behavior and impaired placentophagia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Adra2a	T	C	19: 54,034,835 (GRCm39)	F64L	probably damaging	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gm19965	G	A	1: 116,748,921 (GRCm39)	V201M		Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,501,892 (GRCm39)		probably null	Het
Rbl2	C	A	8: 91,841,669 (GRCm39)	A955D	probably benign	Het
Rgl1	A	G	1: 152,420,146 (GRCm39)	S366P	possibly damaging	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	possibly damaging	Het

Other mutations in Mest

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Mest	APN	6	30,746,330 (GRCm39)	unclassified	probably benign
IGL02231:Mest	APN	6	30,740,772 (GRCm39)	missense	possibly damaging	0.93
IGL02386:Mest	APN	6	30,744,913 (GRCm39)	missense	possibly damaging	0.65
R0102:Mest	UTSW	6	30,746,269 (GRCm39)	missense	probably damaging	1.00
R0102:Mest	UTSW	6	30,746,269 (GRCm39)	missense	probably damaging	1.00
R0826:Mest	UTSW	6	30,742,813 (GRCm39)	missense	probably damaging	1.00
R0972:Mest	UTSW	6	30,740,683 (GRCm39)	nonsense	probably null
R1580:Mest	UTSW	6	30,745,822 (GRCm39)	unclassified	probably benign
R1768:Mest	UTSW	6	30,745,138 (GRCm39)	missense	probably benign	0.01
R1835:Mest	UTSW	6	30,742,790 (GRCm39)	missense	probably benign	0.14
R2131:Mest	UTSW	6	30,745,884 (GRCm39)	missense	probably damaging	1.00
R3918:Mest	UTSW	6	30,742,749 (GRCm39)	missense	probably benign	0.07
R3919:Mest	UTSW	6	30,742,749 (GRCm39)	missense	probably benign	0.07
R4544:Mest	UTSW	6	30,740,679 (GRCm39)	missense	probably damaging	1.00
R4546:Mest	UTSW	6	30,740,679 (GRCm39)	missense	probably damaging	1.00
R4647:Mest	UTSW	6	30,745,109 (GRCm39)	nonsense	probably null
R6818:Mest	UTSW	6	30,746,286 (GRCm39)	missense	probably damaging	1.00
R7048:Mest	UTSW	6	30,742,723 (GRCm39)	missense	probably damaging	1.00
R7158:Mest	UTSW	6	30,744,913 (GRCm39)	missense	possibly damaging	0.65
R7734:Mest	UTSW	6	30,746,299 (GRCm39)	missense	unknown
R7971:Mest	UTSW	6	30,740,734 (GRCm39)	missense
R9267:Mest	UTSW	6	30,742,141 (GRCm39)	missense
Z1177:Mest	UTSW	6	30,723,574 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAATGCTGTTGATTCCTTCCAG -3'
(R):5'- AGTTCCAGCTGCCTGATTCC -3'

Sequencing Primer
(F):5'- CTGTAGGGCATCTGCGG -3'
(R):5'- CAGCTGCCTGATTCCTGTAG -3'

Posted On

2019-06-26