Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Mest'

78223

Institutional Source

Beutler Lab

Gene Symbol

Mest

Ensembl Gene

ENSMUSG00000051855

Gene Name

mesoderm specific transcript

Synonyms

Peg1

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

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

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30723546-30748464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30742813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 146 (H146Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129639 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000124665
AA Change: H153Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: H153Q

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 damaging
Transcript: ENSMUST00000163949
AA Change: H146Q

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

SMART Domains

Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: H146Q

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: ENSMUST00000157040
AA Change: H137Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: H137Q

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: ENSMUST00000147400
AA Change: H138Q

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

SMART Domains

Protein: ENSMUSP00000120408
Gene: ENSMUSG00000051855
AA Change: H138Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	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
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
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'- TACAAATGAGGGTCTGGCAGGCAC -3'
(R):5'- GAGGGATCAATCTTCTCCCACAACG -3'

Sequencing Primer
(F):5'- TGGCAGGCACTGCTAACATC -3'
(R):5'- ACAGAGACTCTTTATGGTGAGCC -3'

Posted On

2013-10-16