Incidental Mutation 'R2025:Dalrd3'
ID 220458
Institutional Source Beutler Lab
Gene Symbol Dalrd3
Ensembl Gene ENSMUSG00000019039
Gene Name DALR anticodon binding domain containing 3
Synonyms 6330580J24Rik
MMRRC Submission 040034-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2025 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108569886-108572774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108571085 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 278 (I278T)
Ref Sequence ENSEMBL: ENSMUSP00000019183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000074208] [ENSMUST00000195249] [ENSMUST00000194381] [ENSMUST00000193427]
AlphaFold Q6PJN8
Predicted Effect probably benign
Transcript: ENSMUST00000019183
AA Change: I278T

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: I278T

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

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

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 noncoding transcript
Transcript: ENSMUST00000196210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193242
Predicted Effect probably benign
Transcript: ENSMUST00000195249
Predicted Effect probably benign
Transcript: ENSMUST00000194381
Predicted Effect probably benign
Transcript: ENSMUST00000193427
SMART Domains Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

low complexity region 55 66 N/A INTRINSIC
DALR_1 68 171 1.3e-7 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030411F24Rik T C 2: 148,782,228 (GRCm38) F41L probably damaging Het
Abcc4 T C 14: 118,553,325 (GRCm38) M757V probably benign Het
Acan T G 7: 79,101,222 (GRCm38) S1914A probably benign Het
Axin2 T A 11: 108,943,078 (GRCm38) V617D probably damaging Het
Bhlhe22 A G 3: 18,055,811 (GRCm38) S342G probably benign Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,746,173 (GRCm38) probably null Het
Ccdc34 A G 2: 110,032,386 (GRCm38) K179E possibly damaging Het
Clasp1 A G 1: 118,504,899 (GRCm38) T208A probably damaging Het
Crabp1 C T 9: 54,768,468 (GRCm38) R112* probably null Het
D130040H23Rik A G 8: 69,302,873 (GRCm38) N310S probably benign Het
Dbp C A 7: 45,708,276 (GRCm38) D89E probably benign Het
Dennd2c A G 3: 103,131,689 (GRCm38) D51G possibly damaging Het
Dido1 A T 2: 180,689,181 (GRCm38) L158* probably null Het
Disp1 G T 1: 183,088,203 (GRCm38) F884L probably damaging Het
Dmrtb1 T C 4: 107,683,585 (GRCm38) D193G probably damaging Het
Dnah8 A G 17: 30,731,159 (GRCm38) D1984G probably damaging Het
Dpf2 T C 19: 5,902,753 (GRCm38) Y218C possibly damaging Het
Dsg4 C T 18: 20,466,636 (GRCm38) Q770* probably null Het
Efemp1 A T 11: 28,914,696 (GRCm38) Y250F possibly damaging Het
Erbin A T 13: 103,830,195 (GRCm38) I1249N probably benign Het
F5 A G 1: 164,209,475 (GRCm38) K1928E probably benign Het
Fam160a2 A G 7: 105,388,936 (GRCm38) V260A probably damaging Het
Fam206a T A 4: 56,805,916 (GRCm38) I138N probably damaging Het
Gdf11 T A 10: 128,891,445 (GRCm38) I81F probably damaging Het
Gm10518 T A 1: 179,803,918 (GRCm38) probably benign Het
Gm14685 G T X: 73,127,655 (GRCm38) G218C probably damaging Het
Grb10 G C 11: 11,970,576 (GRCm38) S14* probably null Het
Greb1l A T 18: 10,515,221 (GRCm38) Y562F possibly damaging Het
Gtf2ird1 T C 5: 134,363,934 (GRCm38) E789G probably damaging Het
Hook3 T C 8: 26,038,098 (GRCm38) E588G probably damaging Het
Hpx A G 7: 105,595,104 (GRCm38) S266P probably damaging Het
Hs6st3 A G 14: 119,869,389 (GRCm38) D403G probably damaging Het
Igf2bp1 A G 11: 95,974,170 (GRCm38) V151A possibly damaging Het
Itga11 C T 9: 62,762,811 (GRCm38) T739I probably damaging Het
Kalrn T C 16: 34,189,736 (GRCm38) I702V probably damaging Het
Kif2b C T 11: 91,577,346 (GRCm38) S37N probably damaging Het
Kng2 T A 16: 23,000,575 (GRCm38) D237V probably benign Het
Krtap27-1 C A 16: 88,671,285 (GRCm38) V124L possibly damaging Het
Lig4 A T 8: 9,972,436 (GRCm38) L448Q probably damaging Het
Macf1 C T 4: 123,371,918 (GRCm38) A4821T probably damaging Het
Msh5 T A 17: 35,032,792 (GRCm38) I431F possibly damaging Het
Ndufa10 A G 1: 92,439,892 (GRCm38) Y339H probably damaging Het
Nin T A 12: 70,030,008 (GRCm38) Q1091L probably damaging Het
Nom1 A C 5: 29,446,851 (GRCm38) D729A probably damaging Het
Olfr671 C A 7: 104,975,244 (GRCm38) G247V probably benign Het
P2ry14 A T 3: 59,115,445 (GRCm38) V207E probably damaging Het
Pdss2 A T 10: 43,393,875 (GRCm38) N238I possibly damaging Het
Pkn1 A G 8: 83,671,378 (GRCm38) V795A probably damaging Het
Pla2g6 A C 15: 79,286,764 (GRCm38) L804R probably damaging Het
Poglut1 A T 16: 38,537,905 (GRCm38) probably null Het
Prkcz A T 4: 155,289,710 (GRCm38) V83D probably damaging Het
Prss50 T C 9: 110,861,260 (GRCm38) F157S probably benign Het
Psors1c2 A G 17: 35,534,202 (GRCm38) probably benign Het
Ptch1 T G 13: 63,524,959 (GRCm38) E944A probably benign Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rab7 G A 6: 88,004,179 (GRCm38) L174F probably damaging Het
Rapgef4 A G 2: 72,242,739 (GRCm38) T790A probably benign Het
Rb1cc1 G T 1: 6,245,309 (GRCm38) V503L probably damaging Het
Sbf1 T A 15: 89,302,730 (GRCm38) E815V probably damaging Het
Setd3 T A 12: 108,160,267 (GRCm38) E104V probably damaging Het
Slc39a5 A T 10: 128,398,410 (GRCm38) L208Q probably damaging Het
Slc39a5 G T 10: 128,398,411 (GRCm38) L208M probably damaging Het
Slc3a1 T G 17: 85,032,845 (GRCm38) Y232D probably damaging Het
Slc8a1 T A 17: 81,649,112 (GRCm38) S166C probably damaging Het
Stard9 T A 2: 120,702,398 (GRCm38) D3045E probably benign Het
Stk4 C A 2: 164,096,831 (GRCm38) D206E probably damaging Het
Syn3 T C 10: 86,466,982 (GRCm38) D103G probably damaging Het
Tbc1d30 T A 10: 121,279,146 (GRCm38) Y369F probably benign Het
Tenm2 G T 11: 36,047,264 (GRCm38) Y1527* probably null Het
Tfg T C 16: 56,705,625 (GRCm38) K85R possibly damaging Het
Timp3 T C 10: 86,300,885 (GRCm38) L11P probably damaging Het
Tmem144 A T 3: 79,827,711 (GRCm38) probably null Het
Tmtc4 T C 14: 122,921,265 (GRCm38) N682S probably benign Het
Tnks2 C T 19: 36,866,066 (GRCm38) L464F probably damaging Het
Trank1 T C 9: 111,392,039 (GRCm38) F2615L probably benign Het
Trio T C 15: 27,744,137 (GRCm38) K2570E probably damaging Het
Trio T A 15: 27,773,927 (GRCm38) D673V probably damaging Het
Ublcp1 A T 11: 44,465,631 (GRCm38) C87S probably benign Het
Unc13a C T 8: 71,639,768 (GRCm38) E1386K possibly damaging Het
Wdr41 C T 13: 95,018,948 (GRCm38) H404Y probably damaging Het
Zfp280b T C 10: 76,038,494 (GRCm38) L69S probably damaging Het
Zfp346 T C 13: 55,132,308 (GRCm38) S282P probably damaging Het
Zfp579 C A 7: 4,993,521 (GRCm38) E464* probably null Het
Zfp78 T A 7: 6,375,514 (GRCm38) probably null Het
Zswim9 T C 7: 13,269,366 (GRCm38) E186G probably damaging Het
Other mutations in Dalrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Dalrd3 APN 9 108,571,526 (GRCm38) unclassified probably benign
IGL02699:Dalrd3 APN 9 108,570,889 (GRCm38) splice site probably benign
IGL02701:Dalrd3 APN 9 108,572,284 (GRCm38) missense possibly damaging 0.95
R0051:Dalrd3 UTSW 9 108,572,215 (GRCm38) missense possibly damaging 0.89
R0051:Dalrd3 UTSW 9 108,572,215 (GRCm38) missense possibly damaging 0.89
R4425:Dalrd3 UTSW 9 108,571,601 (GRCm38) unclassified probably benign
R4552:Dalrd3 UTSW 9 108,572,230 (GRCm38) missense possibly damaging 0.67
R4660:Dalrd3 UTSW 9 108,570,369 (GRCm38) missense probably benign
R4876:Dalrd3 UTSW 9 108,571,436 (GRCm38) splice site probably benign
R5642:Dalrd3 UTSW 9 108,572,290 (GRCm38) missense probably damaging 1.00
R5854:Dalrd3 UTSW 9 108,570,077 (GRCm38) critical splice donor site probably null
R6342:Dalrd3 UTSW 9 108,571,123 (GRCm38) nonsense probably null
R9004:Dalrd3 UTSW 9 108,572,231 (GRCm38) missense probably benign 0.00
R9381:Dalrd3 UTSW 9 108,571,043 (GRCm38) critical splice acceptor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-25