Incidental Mutation 'IGL02386:Mest'
| ID |
291534 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mest
|
| Ensembl Gene |
ENSMUSG00000051855 |
| Gene Name |
mesoderm specific transcript |
| Synonyms |
Peg1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL02386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
30723546-30748464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30744913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 201
(F201S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048774]
[ENSMUST00000115127]
[ENSMUST00000124665]
[ENSMUST00000147400]
[ENSMUST00000157040]
[ENSMUST00000163949]
[ENSMUST00000166192]
[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 |
unknown
Transcript: ENSMUST00000124665
AA Change: F217S
|
| SMART Domains |
Protein: ENSMUSP00000117713
Gene: ENSMUSG00000051855
AA Change: F217S
| 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: ENSMUST00000137521
|
| 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 |
possibly damaging
Transcript: ENSMUST00000157040
AA Change: F201S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119038
Gene: ENSMUSG00000051855
AA Change: F201S
| 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 |
possibly damaging
Transcript: ENSMUST00000163949
AA Change: F210S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129639
Gene: ENSMUSG00000051855
AA Change: F210S
| 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: ENSMUST00000149496
|
| 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 |
|
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555F03Rik |
G |
A |
8: 49,953,472 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd17b |
T |
C |
19: 21,658,263 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Ablim1 |
T |
C |
19: 57,123,086 (GRCm39) |
D167G |
probably damaging |
Het |
| Bpnt1 |
G |
T |
1: 185,070,372 (GRCm39) |
K21N |
probably damaging |
Het |
| Cables2 |
A |
G |
2: 179,903,431 (GRCm39) |
V251A |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,785,438 (GRCm39) |
L269P |
probably damaging |
Het |
| Dhodh |
A |
G |
8: 110,321,396 (GRCm39) |
I330T |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,340,527 (GRCm39) |
D2311E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,074,428 (GRCm39) |
D128G |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,410,056 (GRCm39) |
I508N |
probably benign |
Het |
| Eftud2 |
T |
C |
11: 102,742,580 (GRCm39) |
|
probably null |
Het |
| Fstl4 |
T |
A |
11: 52,664,698 (GRCm39) |
H9Q |
probably benign |
Het |
| Glra3 |
A |
T |
8: 56,542,063 (GRCm39) |
M269L |
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,398,983 (GRCm39) |
R83L |
unknown |
Het |
| Gss |
A |
G |
2: 155,415,090 (GRCm39) |
V205A |
probably benign |
Het |
| Ifi30 |
A |
G |
8: 71,217,405 (GRCm39) |
|
probably benign |
Het |
| Itch |
T |
A |
2: 155,044,181 (GRCm39) |
Y495* |
probably null |
Het |
| Lilrb4a |
C |
T |
10: 51,367,322 (GRCm39) |
Q22* |
probably null |
Het |
| Myh8 |
T |
A |
11: 67,185,266 (GRCm39) |
I839N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,724,319 (GRCm39) |
G1122E |
probably damaging |
Het |
| Ntan1 |
T |
A |
16: 13,653,063 (GRCm39) |
M273K |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,656,739 (GRCm39) |
K1548R |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,469,161 (GRCm39) |
V1260A |
probably damaging |
Het |
| Or4b12 |
T |
A |
2: 90,096,295 (GRCm39) |
I160F |
probably damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,888 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,172,636 (GRCm39) |
S669G |
possibly damaging |
Het |
| Ppargc1b |
T |
C |
18: 61,456,222 (GRCm39) |
D79G |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,486,202 (GRCm39) |
T278A |
probably benign |
Het |
| Slc22a4 |
C |
A |
11: 53,879,598 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,494,386 (GRCm39) |
M833K |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Susd2 |
A |
T |
10: 75,475,929 (GRCm39) |
Y357N |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,015,659 (GRCm39) |
S91Y |
possibly damaging |
Het |
| Tgfbrap1 |
C |
A |
1: 43,114,981 (GRCm39) |
G40C |
probably damaging |
Het |
| Tial1 |
A |
G |
7: 128,050,069 (GRCm39) |
S94P |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,301,941 (GRCm39) |
T117A |
possibly damaging |
Het |
| Usp48 |
A |
C |
4: 137,331,834 (GRCm39) |
R73S |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,297,352 (GRCm39) |
D685E |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation