Incidental Mutation 'R4660:Dalrd3'
ID 352780
Institutional Source Beutler Lab
Gene Symbol Dalrd3
Ensembl Gene ENSMUSG00000019039
Gene Name DALR anticodon binding domain containing 3
Synonyms 6330580J24Rik
MMRRC Submission 041920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4660 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108447085-108449973 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108447568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 129 (S129P)
Ref Sequence ENSEMBL: ENSMUSP00000141451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019183] [ENSMUST00000068700] [ENSMUST00000074208] [ENSMUST00000081111] [ENSMUST00000194381] [ENSMUST00000193427] [ENSMUST00000195249] [ENSMUST00000194904]
AlphaFold Q6PJN8
Predicted Effect probably benign
Transcript: ENSMUST00000019183
AA Change: S129P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
AA Change: S129P

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 probably benign
Transcript: ENSMUST00000081111
SMART Domains Protein: ENSMUSP00000079888
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 28 504 7.39e-260 SMART
CBS 117 168 9.4e-7 SMART
CBS 184 232 1.57e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193044
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192651
Predicted Effect probably benign
Transcript: ENSMUST00000194381
Predicted Effect probably benign
Transcript: ENSMUST00000192518
Predicted Effect probably benign
Transcript: ENSMUST00000193427
SMART Domains Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039

DomainStartEndE-ValueType
low complexity region 55 66 N/A INTRINSIC
DALR_1 68 171 1.3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195249
AA Change: S129P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194689
Predicted Effect probably benign
Transcript: ENSMUST00000194904
SMART Domains Protein: ENSMUSP00000142305
Gene: ENSMUSG00000062867

DomainStartEndE-ValueType
IMPDH 1 319 5e-122 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (102/106)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d T C 2: 131,403,062 (GRCm39) T343A probably damaging Het
Angptl4 A T 17: 33,996,249 (GRCm39) probably benign Het
Antxr2 A T 5: 98,151,913 (GRCm39) probably null Het
Ap1b1 T A 11: 4,966,760 (GRCm39) V145E probably damaging Het
Asns G T 6: 7,678,012 (GRCm39) N355K probably benign Het
Asxl3 A G 18: 22,649,534 (GRCm39) T508A probably benign Het
B4galt7 T A 13: 55,752,111 (GRCm39) V54D possibly damaging Het
Bach2 C T 4: 32,562,777 (GRCm39) P415S probably benign Het
Bbs9 G A 9: 22,490,063 (GRCm39) R278Q probably benign Het
Blzf1 C T 1: 164,134,062 (GRCm39) probably benign Het
Btd A T 14: 31,389,760 (GRCm39) T494S probably benign Het
Casp9 C T 4: 141,540,934 (GRCm39) T434I probably benign Het
Cavin2 T C 1: 51,340,510 (GRCm39) S396P probably benign Het
Ccnk C T 12: 108,168,575 (GRCm39) probably benign Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip1 G A 5: 123,717,437 (GRCm39) T1284I probably damaging Het
Coch T C 12: 51,642,268 (GRCm39) V80A probably benign Het
Cttnbp2 A G 6: 18,406,536 (GRCm39) S1052P probably benign Het
Cyp2j7 C T 4: 96,083,579 (GRCm39) R457K probably benign Het
Ddx10 A G 9: 53,147,698 (GRCm39) probably null Het
Dnah7b A T 1: 46,328,696 (GRCm39) T3143S probably damaging Het
Dynlt1b A G 17: 6,699,279 (GRCm39) T10A probably benign Het
Eif2s2 G A 2: 154,730,189 (GRCm39) T36I probably benign Het
Fam118b A T 9: 35,146,551 (GRCm39) H105Q possibly damaging Het
Galntl5 T A 5: 25,408,377 (GRCm39) I250N probably damaging Het
Gm11544 C T 11: 94,736,306 (GRCm39) noncoding transcript Het
Gm5709 C T 3: 59,526,124 (GRCm39) noncoding transcript Het
Golgb1 T A 16: 36,707,980 (GRCm39) I107N probably damaging Het
Gpld1 T C 13: 25,166,586 (GRCm39) probably null Het
Grik1 T A 16: 87,720,019 (GRCm39) T768S probably damaging Het
H2-T23 T G 17: 36,341,108 (GRCm39) Q349P probably damaging Het
Ing3 A T 6: 21,973,710 (GRCm39) probably benign Het
Iqgap3 T G 3: 88,027,483 (GRCm39) L702R probably damaging Het
Itga8 A G 2: 12,270,069 (GRCm39) V139A probably damaging Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Kbtbd12 T C 6: 88,594,772 (GRCm39) I353V probably benign Het
Kif27 T C 13: 58,471,730 (GRCm39) E786G probably damaging Het
Lingo4 T A 3: 94,310,672 (GRCm39) S537T probably benign Het
Lipo3 C T 19: 33,598,360 (GRCm39) probably benign Het
Lrrc3 G T 10: 77,729,866 (GRCm39) probably benign Het
Ltbp3 T A 19: 5,798,814 (GRCm39) probably null Het
Lyg1 T A 1: 37,985,942 (GRCm39) probably benign Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Mfsd8 T A 3: 40,776,372 (GRCm39) I427F probably benign Het
Mga T A 2: 119,769,104 (GRCm39) probably benign Het
Miga1 A G 3: 151,993,155 (GRCm39) L422P probably damaging Het
Msantd3 A G 4: 48,552,536 (GRCm39) I42V probably benign Het
Mybbp1a T C 11: 72,336,538 (GRCm39) V510A probably benign Het
Nccrp1 G T 7: 28,245,760 (GRCm39) P135T probably damaging Het
Neb T A 2: 52,145,600 (GRCm39) M2975L possibly damaging Het
Nfxl1 A T 5: 72,710,011 (GRCm39) I171N probably damaging Het
Odad2 A G 18: 7,211,609 (GRCm39) V755A possibly damaging Het
Or10q3 T C 19: 11,848,412 (GRCm39) H56R possibly damaging Het
Or12j5 A T 7: 140,083,933 (GRCm39) F146L probably benign Het
Or13a19 T C 7: 139,903,325 (GRCm39) F238L possibly damaging Het
Otop1 T G 5: 38,457,368 (GRCm39) S376A possibly damaging Het
Pdgfra T C 5: 75,322,932 (GRCm39) V10A possibly damaging Het
Pgs1 T C 11: 117,910,503 (GRCm39) V538A probably damaging Het
Ppa2 A T 3: 133,032,445 (GRCm39) T97S probably damaging Het
Pramel22 T A 4: 143,380,847 (GRCm39) Y392F probably benign Het
Pramel26 A G 4: 143,538,435 (GRCm39) S179P probably benign Het
Prdm10 G A 9: 31,238,624 (GRCm39) C172Y probably damaging Het
Prrc2c G A 1: 162,508,464 (GRCm39) P1091L probably damaging Het
Pthlh G A 6: 147,158,796 (GRCm39) R55C probably damaging Het
Ptpn9 A T 9: 56,943,782 (GRCm39) T105S probably benign Het
Rundc1 T A 11: 101,324,830 (GRCm39) V512E possibly damaging Het
Scrib G A 15: 75,937,185 (GRCm39) S307L probably damaging Het
Sec23ip A G 7: 128,352,010 (GRCm39) S26G probably null Het
Sec61a2 A G 2: 5,878,504 (GRCm39) probably benign Het
Sema3c T C 5: 17,877,511 (GRCm39) V206A probably damaging Het
Sgk2 C T 2: 162,839,763 (GRCm39) H124Y possibly damaging Het
Slc26a6 C T 9: 108,738,540 (GRCm39) T592I probably damaging Het
Slc5a11 T C 7: 122,864,486 (GRCm39) Y361H probably damaging Het
Smc6 T C 12: 11,324,008 (GRCm39) V51A probably damaging Het
Stab1 A T 14: 30,876,872 (GRCm39) N817K possibly damaging Het
Swt1 A T 1: 151,283,348 (GRCm39) D336E probably benign Het
Taf13 T A 3: 108,480,293 (GRCm39) probably benign Het
Tmub2 T C 11: 102,175,845 (GRCm39) probably benign Het
Tnf A G 17: 35,419,156 (GRCm39) S209P probably benign Het
Try10 A G 6: 41,334,761 (GRCm39) Y229C probably damaging Het
Ttbk1 G T 17: 46,788,714 (GRCm39) Y183* probably null Het
Ttc17 A T 2: 94,194,774 (GRCm39) I533N possibly damaging Het
Tubb6 C T 18: 67,535,016 (GRCm39) P305L probably damaging Het
Tulp3 G A 6: 128,300,017 (GRCm39) probably benign Het
Usp9x A G X: 12,989,747 (GRCm39) R776G possibly damaging Het
Virma T C 4: 11,513,505 (GRCm39) V453A probably damaging Het
Vmn2r103 A T 17: 20,032,077 (GRCm39) N617I probably damaging Het
Xirp1 G T 9: 119,846,058 (GRCm39) L942M probably damaging Het
Zc3h7b T G 15: 81,676,451 (GRCm39) V731G probably benign Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp639 T C 3: 32,574,679 (GRCm39) Y435H probably damaging Het
Zxdc A G 6: 90,355,820 (GRCm39) H443R probably damaging Het
Other mutations in Dalrd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02441:Dalrd3 APN 9 108,448,725 (GRCm39) unclassified probably benign
IGL02699:Dalrd3 APN 9 108,448,088 (GRCm39) splice site probably benign
IGL02701:Dalrd3 APN 9 108,449,483 (GRCm39) missense possibly damaging 0.95
R0051:Dalrd3 UTSW 9 108,449,414 (GRCm39) missense possibly damaging 0.89
R0051:Dalrd3 UTSW 9 108,449,414 (GRCm39) missense possibly damaging 0.89
R2025:Dalrd3 UTSW 9 108,448,284 (GRCm39) missense probably benign 0.08
R4425:Dalrd3 UTSW 9 108,448,800 (GRCm39) unclassified probably benign
R4552:Dalrd3 UTSW 9 108,449,429 (GRCm39) missense possibly damaging 0.67
R4876:Dalrd3 UTSW 9 108,448,635 (GRCm39) splice site probably benign
R5642:Dalrd3 UTSW 9 108,449,489 (GRCm39) missense probably damaging 1.00
R5854:Dalrd3 UTSW 9 108,447,276 (GRCm39) critical splice donor site probably null
R6342:Dalrd3 UTSW 9 108,448,322 (GRCm39) nonsense probably null
R9004:Dalrd3 UTSW 9 108,449,430 (GRCm39) missense probably benign 0.00
R9381:Dalrd3 UTSW 9 108,448,242 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GGCCCACTTACACACATCTG -3'
(R):5'- AAAGCAAGGGAGGCTGTCTC -3'

Sequencing Primer
(F):5'- TTACACACATCTGCCTGCAGG -3'
(R):5'- TGTCTCAGCCTGCGGAC -3'
Posted On 2015-10-08