Incidental Mutation 'IGL02977:Dym'
| ID |
406445 |
| 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 # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
75151852-75420035 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 75196246 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 null
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 |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Bmp5 |
A |
G |
9: 75,801,081 (GRCm39) |
T404A |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation