Incidental Mutation 'IGL02701:Dalrd3'
ID 304139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dalrd3
Ensembl Gene ENSMUSG00000019039
Gene Name DALR anticodon binding domain containing 3
Synonyms 6330580J24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02701
Quality Score
Status
Chromosome 9
Chromosomal Location 108569886-108572774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108572284 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 143 (V143D)
Ref Sequence ENSEMBL: ENSMUSP00000141748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000074208] [ENSMUST00000193427] [ENSMUST00000195249]
AlphaFold Q6PJN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000019183
AA Change: V472D

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: V472D

DomainStartEndE-ValueType
low complexity region 288 301 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
DALR_1 399 538 2.09e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068700
SMART Domains Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

DomainStartEndE-ValueType
Blast:WD40 109 142 3e-6 BLAST
WD40 198 237 1.42e-4 SMART
WD40 247 284 7.28e-2 SMART
WD40 286 326 1.72e-3 SMART
Blast:WD40 336 375 3e-13 BLAST
WD40 479 519 2.96e1 SMART
low complexity region 537 552 N/A INTRINSIC
WD40 559 598 1.77e2 SMART
Blast:WD40 600 641 7e-20 BLAST
Blast:WD40 764 815 2e-22 BLAST
Blast:WD40 855 896 2e-11 BLAST
WD40 900 949 1.48e1 SMART
WD40 973 1015 5.52e-2 SMART
WD40 1035 1076 3.98e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074208
SMART Domains Protein: ENSMUSP00000073832
Gene: ENSMUSG00000070283

DomainStartEndE-ValueType
Pfam:DUF498 61 169 9.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191897
Predicted Effect probably benign
Transcript: ENSMUST00000192518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193193
Predicted Effect possibly damaging
Transcript: ENSMUST00000193427
AA Change: V143D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039
AA Change: V143D

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
DALR_1 68 171 1.3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Gde1 T A 7: 118,698,637 T9S probably damaging Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Dalrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Dalrd3 APN 9 108571526 unclassified probably benign
IGL02699:Dalrd3 APN 9 108570889 splice site probably benign
R0051:Dalrd3 UTSW 9 108572215 missense possibly damaging 0.89
R0051:Dalrd3 UTSW 9 108572215 missense possibly damaging 0.89
R2025:Dalrd3 UTSW 9 108571085 missense probably benign 0.08
R4425:Dalrd3 UTSW 9 108571601 unclassified probably benign
R4552:Dalrd3 UTSW 9 108572230 missense possibly damaging 0.67
R4660:Dalrd3 UTSW 9 108570369 missense probably benign
R4876:Dalrd3 UTSW 9 108571436 splice site probably benign
R5642:Dalrd3 UTSW 9 108572290 missense probably damaging 1.00
R5854:Dalrd3 UTSW 9 108570077 critical splice donor site probably null
R6342:Dalrd3 UTSW 9 108571123 nonsense probably null
R9004:Dalrd3 UTSW 9 108572231 missense probably benign 0.00
R9381:Dalrd3 UTSW 9 108571043 critical splice acceptor site probably null
Posted On 2015-04-16