Incidental Mutation 'R1575:Dtl'
ID 171071
Institutional Source Beutler Lab
Gene Symbol Dtl
Ensembl Gene ENSMUSG00000037474
Gene Name denticleless E3 ubiquitin protein ligase
Synonyms 5730564G15Rik, 2810047L02Rik
MMRRC Submission 039613-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1575 (G1)
Quality Score 163
Status Validated
Chromosome 1
Chromosomal Location 191269468-191307656 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 191293658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027933] [ENSMUST00000193977] [ENSMUST00000195650]
AlphaFold Q3TLR7
Predicted Effect probably null
Transcript: ENSMUST00000027933
SMART Domains Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474

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 noncoding transcript
Transcript: ENSMUST00000194064
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T A 3: 148,558,398 (GRCm39) T437S probably benign Het
Akna A G 4: 63,297,570 (GRCm39) F828S probably benign Het
Alg9 G T 9: 50,686,802 (GRCm39) A40S possibly damaging Het
Alox8 T A 11: 69,076,067 (GRCm39) H628L possibly damaging Het
Aox3 T C 1: 58,191,713 (GRCm39) W422R probably benign Het
Atp13a4 T C 16: 29,228,528 (GRCm39) D984G probably benign Het
Bcam T C 7: 19,494,307 (GRCm39) E363G possibly damaging Het
Cadps2 C A 6: 23,429,217 (GRCm39) V519F probably damaging Het
Calca A G 7: 114,234,396 (GRCm39) Y18H probably damaging Het
Cd70 A G 17: 57,453,364 (GRCm39) I100T probably damaging Het
Cdk4 T A 10: 126,900,520 (GRCm39) H95Q probably damaging Het
Chchd1 T A 14: 20,753,410 (GRCm39) N11K probably damaging Het
Cma2 T A 14: 56,210,272 (GRCm39) N52K probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dicer1 A G 12: 104,688,228 (GRCm39) probably null Het
Dnajc13 A G 9: 104,034,037 (GRCm39) S2206P probably benign Het
Fam186b T C 15: 99,184,852 (GRCm39) T24A probably benign Het
Fbxw21 A G 9: 108,990,984 (GRCm39) V25A probably benign Het
Gins1 T C 2: 150,754,758 (GRCm39) S45P probably benign Het
Gtpbp2 T A 17: 46,476,869 (GRCm39) V349D probably damaging Het
Hyal5 G T 6: 24,876,792 (GRCm39) D222Y probably damaging Het
Itgal A G 7: 126,900,060 (GRCm39) probably null Het
Klk14 A G 7: 43,343,377 (GRCm39) probably null Het
Lama1 T A 17: 68,117,404 (GRCm39) L2518Q possibly damaging Het
Lrrc2 G A 9: 110,808,555 (GRCm39) G264D probably benign Het
Ltbp4 A G 7: 27,022,245 (GRCm39) S893P probably damaging Het
Mast4 G A 13: 102,875,771 (GRCm39) P1107L probably damaging Het
Mbd1 T A 18: 74,408,490 (GRCm39) probably null Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Ncan G A 8: 70,562,848 (GRCm39) T470I probably benign Het
Npy1r A T 8: 67,156,813 (GRCm39) I78F probably damaging Het
Or10q1b A T 19: 13,682,889 (GRCm39) M233L probably benign Het
Or8b52 G A 9: 38,576,573 (GRCm39) T189M probably damaging Het
Palb2 A T 7: 121,710,061 (GRCm39) probably null Het
Pax3 T C 1: 78,080,121 (GRCm39) T422A probably benign Het
Pebp1 A T 5: 117,424,229 (GRCm39) D72E possibly damaging Het
Pnliprp1 A T 19: 58,728,901 (GRCm39) T363S probably benign Het
Rbm44 G A 1: 91,084,565 (GRCm39) probably null Het
Rbm47 T A 5: 66,182,358 (GRCm39) Y425F probably benign Het
Robo3 G T 9: 37,340,957 (GRCm39) A83E probably damaging Het
Rrm1 A G 7: 102,105,721 (GRCm39) Y279C probably damaging Het
Rslcan18 A T 13: 67,256,121 (GRCm39) probably benign Het
Scara5 C A 14: 65,968,314 (GRCm39) Q196K probably benign Het
Setd1b C T 5: 123,301,210 (GRCm39) probably benign Het
Siah1a A G 8: 87,451,869 (GRCm39) F205S probably damaging Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Ssu72 A G 4: 155,815,814 (GRCm39) D86G probably benign Het
St7 G T 6: 17,886,110 (GRCm39) K357N probably damaging Het
Sv2b G A 7: 74,797,425 (GRCm39) T323I probably damaging Het
Syt1 T C 10: 108,340,361 (GRCm39) N319S probably benign Het
Tanc1 T A 2: 59,621,995 (GRCm39) F371L probably damaging Het
Tcf20 C A 15: 82,739,693 (GRCm39) G586V probably benign Het
Tg T C 15: 66,601,534 (GRCm39) probably null Het
Tyk2 A T 9: 21,026,758 (GRCm39) N620K probably benign Het
Ube2j1 T A 4: 33,045,116 (GRCm39) S130T probably benign Het
Ubr2 G T 17: 47,243,418 (GRCm39) P1696H probably damaging Het
Ubr5 A T 15: 38,041,085 (GRCm39) D266E probably damaging Het
Vipr2 A G 12: 116,107,892 (GRCm39) T426A probably benign Het
Vmn2r104 A T 17: 20,262,477 (GRCm39) W218R probably damaging Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vwf A G 6: 125,632,214 (GRCm39) E82G unknown Het
Vwf T A 6: 125,640,534 (GRCm39) Y2323* probably null Het
Wdr76 T G 2: 121,359,402 (GRCm39) V329G probably damaging Het
Zan A G 5: 137,460,214 (GRCm39) C1226R unknown Het
Zbtb16 G T 9: 48,743,572 (GRCm39) Q247K probably damaging Het
Zfp541 T C 7: 15,812,640 (GRCm39) V431A possibly damaging 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
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
R3808:Dtl UTSW 1 191,280,466 (GRCm39) missense probably damaging 1.00
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'- TCCCTACTGTTAAGAGCCACTCATGTC -3'
(R):5'- gaagccttgctaccactATAACTGTCC -3'

Sequencing Primer
(F):5'- gccaacctaagtacacacagag -3'
(R):5'- accacattgtatccactcatcc -3'
Posted On 2014-04-13