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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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