Incidental Mutation 'IGL03078:Dnd1'
ID |
417750 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnd1
|
Ensembl Gene |
ENSMUSG00000044595 |
Gene Name |
DND microRNA-mediated repression inhibitor 1 |
Synonyms |
Ter, RBMS4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03078
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
36896724-36899267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36899197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 8
(E8G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001416]
[ENSMUST00000049323]
[ENSMUST00000061522]
|
AlphaFold |
Q6VY05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001416
|
SMART Domains |
Protein: ENSMUSP00000001416 Gene: ENSMUSG00000001380
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
7 |
60 |
5.37e-11 |
SMART |
Pfam:tRNA-synt_His
|
61 |
389 |
1.9e-41 |
PFAM |
Pfam:HGTP_anticodon2
|
404 |
507 |
3.3e-12 |
PFAM |
Pfam:HGTP_anticodon
|
410 |
501 |
4.4e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049323
|
SMART Domains |
Protein: ENSMUSP00000039010 Gene: ENSMUSG00000042660
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
WD40
|
31 |
67 |
4.6e0 |
SMART |
WD40
|
74 |
113 |
1.12e-2 |
SMART |
WD40
|
116 |
155 |
2.4e-2 |
SMART |
WD40
|
158 |
197 |
2.76e-2 |
SMART |
WD40
|
202 |
239 |
1.72e0 |
SMART |
WD40
|
284 |
324 |
2.01e-4 |
SMART |
low complexity region
|
380 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061522
AA Change: E8G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000054412 Gene: ENSMUSG00000044595 AA Change: E8G
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
RRM
|
59 |
132 |
2.49e-10 |
SMART |
RRM
|
139 |
214 |
3.01e-1 |
SMART |
Pfam:DND1_DSRM
|
253 |
333 |
1.1e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155827
|
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 that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010] PHENOTYPE: A semidominant mutation in the 129/Sv strain markedly increases the frequency of testicular teratomas. Homozygous males are germ cell deficient and sterile, while homozygous females have small ovaries, but usually breed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
Other mutations in Dnd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
beanpole
|
UTSW |
18 |
36,897,552 (GRCm39) |
splice site |
probably benign |
|
R0437:Dnd1
|
UTSW |
18 |
36,897,552 (GRCm39) |
splice site |
probably benign |
|
R0518:Dnd1
|
UTSW |
18 |
36,897,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1864:Dnd1
|
UTSW |
18 |
36,899,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4651:Dnd1
|
UTSW |
18 |
36,898,114 (GRCm39) |
intron |
probably benign |
|
R4652:Dnd1
|
UTSW |
18 |
36,898,114 (GRCm39) |
intron |
probably benign |
|
R4860:Dnd1
|
UTSW |
18 |
36,899,016 (GRCm39) |
unclassified |
probably benign |
|
R6113:Dnd1
|
UTSW |
18 |
36,898,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |