Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Mest'

537421

Institutional Source

Beutler Lab

Gene Symbol

Mest

Ensembl Gene

ENSMUSG00000051855

Gene Name

mesoderm specific transcript

Synonyms

Peg1

MMRRC Submission

044930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30723546-30748464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30746286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 284 (D284E)

Ref Sequence

ENSEMBL: ENSMUSP00000129639 (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: D291E

SMART Domains

Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: D291E

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 damaging
Transcript: ENSMUST00000157040
AA Change: D275E

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

SMART Domains

Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: D275E

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 damaging
Transcript: ENSMUST00000163949
AA Change: D284E

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

SMART Domains

Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: D284E

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

Meta Mutation Damage Score

0.9269

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Ambp	G	T	4: 63,072,243 (GRCm39)	S17*	probably null	Het
Anxa6	T	A	11: 54,870,326 (GRCm39)	M662L	probably benign	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm973	T	C	1: 59,669,328 (GRCm39)	L793P	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Or4k38	T	G	2: 111,165,659 (GRCm39)	I255L	probably benign	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	probably 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
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
R7290:Mest	UTSW	6	30,747,158 (GRCm39)	missense	unknown
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'- TGACTTGCTCTATAAAGCTCACC -3'
(R):5'- ATGGAATGATGGCAGCCATG -3'

Sequencing Primer
(F):5'- ATAAAGCTCACCTAACAATAAGTGAG -3'
(R):5'- TGGCAGCCATGACAGTG -3'

Posted On

2018-10-18