Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Mest'

306886

Institutional Source

Beutler Lab

Gene Symbol

Mest

Ensembl Gene

ENSMUSG00000051855

Gene Name

mesoderm specific transcript

Synonyms

Peg1

MMRRC Submission

040817-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30723547-30748465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30742750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 132 (S132N)

Ref Sequence

ENSEMBL: ENSMUSP00000117713 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000083567

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

probably benign
Transcript: ENSMUST00000124665
AA Change: S132N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: S132N

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

noncoding transcript
Transcript: ENSMUST00000130751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137521

Predicted Effect

probably benign
Transcript: ENSMUST00000147400
AA Change: S117N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120408
Gene: ENSMUSG00000051855
AA Change: S117N

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

noncoding transcript
Transcript: ENSMUST00000149496

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: S116N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: S116N

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: S125N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: S125N

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

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740	S674P	unknown	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036		probably benign	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Prelid2	T	A	18: 41,937,675	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832	C283S	probably damaging	Het

Other mutations in Mest

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Mest	APN	6	30746331	unclassified	probably benign
IGL02231:Mest	APN	6	30740773	missense	possibly damaging	0.93
IGL02386:Mest	APN	6	30744914	missense	possibly damaging	0.65
R0102:Mest	UTSW	6	30746270	missense	probably damaging	1.00
R0102:Mest	UTSW	6	30746270	missense	probably damaging	1.00
R0826:Mest	UTSW	6	30742814	missense	probably damaging	1.00
R0972:Mest	UTSW	6	30740684	nonsense	probably null
R1580:Mest	UTSW	6	30745823	unclassified	probably benign
R1768:Mest	UTSW	6	30745139	missense	probably benign	0.01
R1835:Mest	UTSW	6	30742791	missense	probably benign	0.14
R2131:Mest	UTSW	6	30745885	missense	probably damaging	1.00
R3918:Mest	UTSW	6	30742750	missense	probably benign	0.07
R4544:Mest	UTSW	6	30740680	missense	probably damaging	1.00
R4546:Mest	UTSW	6	30740680	missense	probably damaging	1.00
R4647:Mest	UTSW	6	30745110	nonsense	probably null
R6818:Mest	UTSW	6	30746287	missense	probably damaging	1.00
R7048:Mest	UTSW	6	30742724	missense	probably damaging	1.00
R7158:Mest	UTSW	6	30744914	missense	possibly damaging	0.65
R7290:Mest	UTSW	6	30747159	missense	unknown
R7734:Mest	UTSW	6	30746300	missense	unknown
R7971:Mest	UTSW	6	30740735	missense
R9267:Mest	UTSW	6	30742142	missense
Z1177:Mest	UTSW	6	30723575	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGCTTTGGCTTCAGTGAC -3'
(R):5'- TAGCTCAGTAACTGACTCCCC -3'

Sequencing Primer
(F):5'- CTTCAGTGACAAGCCGGTAAGC -3'
(R):5'- GATGGTCCCAGAATACTTGAGTTTCC -3'

Posted On

2015-04-17