Incidental Mutation 'IGL00596:Dym'
| ID |
3292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dym
|
| Ensembl Gene |
ENSMUSG00000035765 |
| Gene Name |
dymeclin |
| Synonyms |
1810041M12Rik, C030019K18Rik, 4933427L07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
75151852-75420035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75252320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 362
(V362D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039608]
|
| AlphaFold |
Q8CHY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039608
AA Change: V362D
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: V362D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
646 |
3.3e-174 |
PFAM |
|
Pfam:Hid1
|
309 |
584 |
3e-11 |
PFAM |
|
| 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 protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele display decreased body size with short tubular bones, chondrodysplasia, partial penetrance of obstructive hydronephrosis and impaired vesicular transport. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,484,503 (GRCm39) |
I446T |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
A |
T |
10: 11,324,384 (GRCm39) |
|
probably null |
Het |
| Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,048,151 (GRCm39) |
V527A |
probably benign |
Het |
| Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,602,665 (GRCm39) |
I7F |
possibly damaging |
Het |
| Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
| Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,812,191 (GRCm39) |
W197R |
probably benign |
Het |
| Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
| Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
| Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dym |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Dym
|
APN |
18 |
75,247,852 (GRCm39) |
splice site |
probably benign |
|
|
IGL02657:Dym
|
APN |
18 |
75,215,527 (GRCm39) |
nonsense |
probably null |
|
|
IGL02716:Dym
|
APN |
18 |
75,419,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Dym
|
APN |
18 |
75,196,246 (GRCm39) |
critical splice donor site |
probably null |
|
|
asesino
|
UTSW |
18 |
75,189,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
flavor
|
UTSW |
18 |
75,189,809 (GRCm39) |
nonsense |
probably null |
|
|
geschmack
|
UTSW |
18 |
75,196,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
kugel
|
UTSW |
18 |
75,189,809 (GRCm39) |
nonsense |
probably null |
|
|
sabor
|
UTSW |
18 |
75,258,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0042:Dym
|
UTSW |
18 |
75,258,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0058:Dym
|
UTSW |
18 |
75,176,243 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0058:Dym
|
UTSW |
18 |
75,176,243 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0320:Dym
|
UTSW |
18 |
75,332,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0943:Dym
|
UTSW |
18 |
75,419,840 (GRCm39) |
makesense |
probably null |
|
|
R1677:Dym
|
UTSW |
18 |
75,258,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Dym
|
UTSW |
18 |
75,213,321 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2221:Dym
|
UTSW |
18 |
75,363,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Dym
|
UTSW |
18 |
75,332,283 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4087:Dym
|
UTSW |
18 |
75,363,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Dym
|
UTSW |
18 |
75,376,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Dym
|
UTSW |
18 |
75,252,232 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6489:Dym
|
UTSW |
18 |
75,213,297 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6641:Dym
|
UTSW |
18 |
75,189,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Dym
|
UTSW |
18 |
75,419,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6864:Dym
|
UTSW |
18 |
75,189,809 (GRCm39) |
nonsense |
probably null |
|
|
R7284:Dym
|
UTSW |
18 |
75,252,242 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7319:Dym
|
UTSW |
18 |
75,196,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8095:Dym
|
UTSW |
18 |
75,247,872 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8683:Dym
|
UTSW |
18 |
75,363,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Dym
|
UTSW |
18 |
75,419,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Dym
|
UTSW |
18 |
75,189,809 (GRCm39) |
nonsense |
probably null |
|
|
R9022:Dym
|
UTSW |
18 |
75,258,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-04-20 |
Incidental Mutation