Incidental Mutation 'R3919:Mest'
| ID |
306886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mest
|
| Ensembl Gene |
ENSMUSG00000051855 |
| Gene Name |
mesoderm specific transcript |
| Synonyms |
Peg1 |
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30723546-30748464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30742749 bp (GRCm39)
|
| 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]
[ENSMUST00000163949]
[ENSMUST00000147400]
[ENSMUST00000157040]
[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 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: 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 |
|
| 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 |
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 |
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 |
0.0749 |
| 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: 43,879,852 (GRCm39) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,353 (GRCm39) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,764 (GRCm39) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,430,472 (GRCm39) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,403,578 (GRCm39) |
A1365S |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,222,599 (GRCm39) |
S674P |
unknown |
Het |
| Cd177 |
T |
C |
7: 24,443,858 (GRCm39) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,298,460 (GRCm39) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,109,848 (GRCm39) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,550,303 (GRCm39) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,201,091 (GRCm39) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,356,905 (GRCm39) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,453,845 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 132,806,444 (GRCm39) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm39) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,994,501 (GRCm39) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 93,640,902 (GRCm39) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 74,980,613 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,232,066 (GRCm39) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,922,306 (GRCm39) |
K279E |
possibly damaging |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,829 (GRCm39) |
K28E |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,261,695 (GRCm39) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,850,723 (GRCm39) |
T379S |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,275,762 (GRCm39) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,738,236 (GRCm39) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppt2 |
T |
C |
17: 34,841,897 (GRCm39) |
N213S |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 42,070,740 (GRCm39) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,402,588 (GRCm39) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,858,716 (GRCm39) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,487,331 (GRCm39) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,656,616 (GRCm39) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,598,659 (GRCm39) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,254,179 (GRCm39) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,708,591 (GRCm39) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,135,981 (GRCm39) |
T430I |
possibly damaging |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trim6 |
A |
T |
7: 103,882,057 (GRCm39) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,433,245 (GRCm39) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,434,854 (GRCm39) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,413,421 (GRCm39) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,464,175 (GRCm39) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 23,960,257 (GRCm39) |
C283S |
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 |
|
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'- AGGCTTTGGCTTCAGTGAC -3'
(R):5'- TAGCTCAGTAACTGACTCCCC -3'
Sequencing Primer
(F):5'- CTTCAGTGACAAGCCGGTAAGC -3'
(R):5'- GATGGTCCCAGAATACTTGAGTTTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation