Incidental Mutation 'R3808:Dtl'
ID 275016
Institutional Source Beutler Lab
Gene Symbol Dtl
Ensembl Gene ENSMUSG00000037474
Gene Name denticleless E3 ubiquitin protein ligase
Synonyms 5730564G15Rik, 2810047L02Rik
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 191269468-191307656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 191280466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 356 (L356R)
Ref Sequence ENSEMBL: ENSMUSP00000027933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027933] [ENSMUST00000193977] [ENSMUST00000195650]
AlphaFold Q3TLR7
Predicted Effect probably damaging
Transcript: ENSMUST00000027933
AA Change: L356R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: L356R

DomainStartEndE-ValueType
Blast:WD40 30 80 1e-24 BLAST
WD40 87 126 2.61e-3 SMART
WD40 129 169 8.04e-4 SMART
WD40 205 244 8.29e-1 SMART
Blast:WD40 265 299 1e-11 BLAST
WD40 304 345 1.29e-2 SMART
WD40 349 389 1.07e-8 SMART
low complexity region 427 454 N/A INTRINSIC
low complexity region 476 495 N/A INTRINSIC
low complexity region 505 521 N/A INTRINSIC
low complexity region 630 645 N/A INTRINSIC
low complexity region 674 690 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193977
SMART Domains Protein: ENSMUSP00000142111
Gene: ENSMUSG00000037474

DomainStartEndE-ValueType
Blast:WD40 30 80 1e-26 BLAST
SCOP:d1e1aa_ 65 108 6e-5 SMART
Blast:WD40 87 113 6e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195650
SMART Domains Protein: ENSMUSP00000141218
Gene: ENSMUSG00000037474

DomainStartEndE-ValueType
Blast:WD40 30 80 2e-26 BLAST
WD40 87 126 1.6e-5 SMART
Blast:WD40 129 154 7e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195765
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Dtl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Dtl APN 1 191,278,738 (GRCm39) splice site probably null
IGL01069:Dtl APN 1 191,293,651 (GRCm39) critical splice acceptor site probably null
IGL01135:Dtl APN 1 191,280,442 (GRCm39) missense probably damaging 1.00
IGL01307:Dtl APN 1 191,302,811 (GRCm39) missense possibly damaging 0.78
IGL01461:Dtl APN 1 191,278,729 (GRCm39) missense possibly damaging 0.88
IGL01809:Dtl APN 1 191,280,415 (GRCm39) missense probably damaging 1.00
IGL01958:Dtl APN 1 191,300,489 (GRCm39) missense probably damaging 1.00
IGL02217:Dtl APN 1 191,300,426 (GRCm39) missense probably damaging 1.00
IGL02408:Dtl APN 1 191,273,352 (GRCm39) missense probably benign 0.00
IGL02445:Dtl APN 1 191,290,172 (GRCm39) critical splice donor site probably null
IGL02661:Dtl APN 1 191,273,483 (GRCm39) missense probably benign 0.09
IGL02864:Dtl APN 1 191,288,938 (GRCm39) missense probably benign 0.04
IGL02897:Dtl APN 1 191,273,656 (GRCm39) splice site probably benign
IGL03069:Dtl APN 1 191,289,008 (GRCm39) splice site probably benign
PIT4418001:Dtl UTSW 1 191,273,429 (GRCm39) missense possibly damaging 0.46
R0370:Dtl UTSW 1 191,307,462 (GRCm39) missense probably benign 0.05
R0513:Dtl UTSW 1 191,301,819 (GRCm39) nonsense probably null
R1386:Dtl UTSW 1 191,301,829 (GRCm39) missense probably damaging 1.00
R1424:Dtl UTSW 1 191,293,649 (GRCm39) missense probably benign 0.13
R1575:Dtl UTSW 1 191,293,658 (GRCm39) splice site probably null
R2128:Dtl UTSW 1 191,290,222 (GRCm39) missense probably damaging 0.99
R2297:Dtl UTSW 1 191,273,207 (GRCm39) missense probably benign 0.41
R2344:Dtl UTSW 1 191,280,490 (GRCm39) missense probably benign 0.00
R3121:Dtl UTSW 1 191,285,175 (GRCm39) nonsense probably null
R4722:Dtl UTSW 1 191,288,953 (GRCm39) missense possibly damaging 0.52
R4753:Dtl UTSW 1 191,301,815 (GRCm39) missense probably damaging 1.00
R4904:Dtl UTSW 1 191,300,457 (GRCm39) missense probably damaging 0.99
R4965:Dtl UTSW 1 191,278,677 (GRCm39) missense possibly damaging 0.93
R5068:Dtl UTSW 1 191,300,485 (GRCm39) missense probably damaging 1.00
R5119:Dtl UTSW 1 191,273,618 (GRCm39) missense probably damaging 1.00
R5872:Dtl UTSW 1 191,278,680 (GRCm39) missense probably benign 0.00
R5911:Dtl UTSW 1 191,300,519 (GRCm39) missense probably damaging 1.00
R5992:Dtl UTSW 1 191,300,684 (GRCm39) splice site probably null
R6425:Dtl UTSW 1 191,278,735 (GRCm39) missense probably benign 0.02
R7403:Dtl UTSW 1 191,295,285 (GRCm39) missense probably damaging 1.00
R8756:Dtl UTSW 1 191,271,371 (GRCm39) missense probably benign
R8835:Dtl UTSW 1 191,293,609 (GRCm39) missense probably damaging 1.00
R8850:Dtl UTSW 1 191,285,175 (GRCm39) nonsense probably null
R9091:Dtl UTSW 1 191,288,923 (GRCm39) missense probably damaging 1.00
R9270:Dtl UTSW 1 191,288,923 (GRCm39) missense probably damaging 1.00
X0018:Dtl UTSW 1 191,300,522 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGGGAAATACATCTGGATGC -3'
(R):5'- TGAACTTCAGTGCTCAGTGG -3'

Sequencing Primer
(F):5'- CGGGAAATACATCTGGATGCTTTTAC -3'
(R):5'- CTGAGGGACAGTGCCAAAAC -3'
Posted On 2015-04-02