Incidental Mutation 'R8095:Dym'
| ID |
630173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dym
|
| Ensembl Gene |
ENSMUSG00000035765 |
| Gene Name |
dymeclin |
| Synonyms |
1810041M12Rik, C030019K18Rik, 4933427L07Rik |
| MMRRC Submission |
067527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8095 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
75151852-75420035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75247872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039608]
|
| AlphaFold |
Q8CHY3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039608
AA Change: T259A
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: T259A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dymeclin
|
1 |
646 |
3.3e-174 |
PFAM |
|
Pfam:Hid1
|
309 |
584 |
3e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,536,196 (GRCm39) |
I490M |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,590,048 (GRCm39) |
I817V |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,888,565 (GRCm39) |
L945P |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,218 (GRCm39) |
A100D |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,106 (GRCm39) |
T108A |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
| Cyp51 |
C |
T |
5: 4,136,490 (GRCm39) |
E435K |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,633,597 (GRCm39) |
E11* |
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,396,160 (GRCm39) |
|
probably null |
Het |
| E030018B13Rik |
T |
G |
7: 63,569,049 (GRCm39) |
H32Q |
unknown |
Het |
| Ehmt2 |
T |
G |
17: 35,126,745 (GRCm39) |
H809Q |
probably damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Fam98a |
C |
A |
17: 75,845,766 (GRCm39) |
D327Y |
probably damaging |
Het |
| Foxf1 |
C |
T |
8: 121,813,551 (GRCm39) |
T357I |
probably benign |
Het |
| Foxh1 |
T |
A |
15: 76,553,208 (GRCm39) |
R169* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,295,991 (GRCm39) |
F3568S |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,028 (GRCm39) |
S45P |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,049,035 (GRCm39) |
Y371* |
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,671,255 (GRCm39) |
H225R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,855 (GRCm39) |
V560E |
possibly damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,769 (GRCm39) |
V77A |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,848,131 (GRCm39) |
K595R |
probably benign |
Het |
| Mfsd2a |
A |
T |
4: 122,845,064 (GRCm39) |
C216S |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,496,126 (GRCm39) |
Y6688* |
probably null |
Het |
| Or12j5 |
T |
C |
7: 140,084,192 (GRCm39) |
Y60C |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,825,614 (GRCm39) |
D72G |
probably damaging |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,924 (GRCm39) |
I211V |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,498,388 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,132,730 (GRCm39) |
Y166C |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,809 (GRCm39) |
K171N |
possibly damaging |
Het |
| Scyl2 |
G |
T |
10: 89,476,965 (GRCm39) |
T720K |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,310,891 (GRCm39) |
V384D |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,772,285 (GRCm39) |
Y1490C |
unknown |
Het |
| Snx16 |
A |
T |
3: 10,503,244 (GRCm39) |
M1K |
probably null |
Het |
| Sqle |
A |
G |
15: 59,193,276 (GRCm39) |
S218G |
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,525,455 (GRCm39) |
I527T |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,087,735 (GRCm39) |
Y673C |
probably damaging |
Het |
| Ttc39b |
C |
T |
4: 83,164,557 (GRCm39) |
A252T |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,977 (GRCm39) |
L15H |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,992 (GRCm39) |
Q731* |
probably null |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,231 (GRCm39) |
R254G |
possibly damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp644 |
A |
C |
5: 106,766,280 (GRCm39) |
V1234G |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGTCACTGTGTACTCTTTAGTGGTC -3'
(R):5'- TGGGGACAACAAGCCTCTAC -3'
Sequencing Primer
(F):5'- CATGGGTGTGTGTGTGTATAGAATCC -3'
(R):5'- AGCCTCTACTTGCTAAGAAAGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation