Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Mest'

285697

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mest

Ensembl Gene

ENSMUSG00000051855

Gene Name

mesoderm specific transcript

Synonyms

Peg1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

30723547-30748465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30740773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 73 (K73E)

Ref Sequence

ENSEMBL: ENSMUSP00000115541 (fasta)

Gene Model

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

AlphaFold

Q07646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083567

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115127
AA Change: K54E

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110780
Gene: ENSMUSG00000051855
AA Change: K54E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124665
AA Change: K51E

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: K51E

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: K36E

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

SMART Domains

Protein: ENSMUSP00000120408
Gene: ENSMUSG00000051855
AA Change: K36E

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

possibly damaging
Transcript: ENSMUST00000151777
AA Change: K73E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115541
Gene: ENSMUSG00000051855
AA Change: K73E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000157040
AA Change: K35E

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

SMART Domains

Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: K35E

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: K44E

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

SMART Domains

Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: K44E

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

noncoding transcript
Transcript: ENSMUST00000204689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184220

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,279,896	G1647D	probably benign	Het
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in Mest

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Mest	APN	6	30746331	unclassified	probably benign
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
R3919: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

Posted On

2015-04-16