Incidental Mutation 'IGL01593:Dym'
| ID |
91667 |
| 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 # |
IGL01593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
75151852-75420035 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 75247852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039608]
|
| AlphaFold |
Q8CHY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039608
|
| SMART Domains |
Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
| Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
| Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
| Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
| Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
| Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
| Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
| Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,873 (GRCm39) |
|
probably null |
Het |
| Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
| Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
| Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
| Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
| Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
probably damaging |
Het |
|
| Other mutations in Dym |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Dym
|
APN |
18 |
75,252,320 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
2013-12-09 |
Incidental Mutation