Incidental Mutation 'R0513:Dtl'
ID 47966
Institutional Source Beutler Lab
Gene Symbol Dtl
Ensembl Gene ENSMUSG00000037474
Gene Name denticleless E3 ubiquitin protein ligase
Synonyms 5730564G15Rik, 2810047L02Rik
MMRRC Submission 038707-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0513 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 191269468-191307656 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 191301819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 79 (Y79*)
Ref Sequence ENSEMBL: ENSMUSP00000141218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027933] [ENSMUST00000193977] [ENSMUST00000195650]
AlphaFold Q3TLR7
Predicted Effect probably null
Transcript: ENSMUST00000027933
AA Change: Y79*
SMART Domains Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: Y79*

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 noncoding transcript
Transcript: ENSMUST00000192014
Predicted Effect probably null
Transcript: ENSMUST00000193977
AA Change: Y79*
SMART Domains Protein: ENSMUSP00000142111
Gene: ENSMUSG00000037474
AA Change: Y79*

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 null
Transcript: ENSMUST00000195650
AA Change: Y79*
SMART Domains Protein: ENSMUSP00000141218
Gene: ENSMUSG00000037474
AA Change: Y79*

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 0.9711 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 99% (122/123)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,195 (GRCm39) T146A probably benign Het
Abcg4 A G 9: 44,192,984 (GRCm39) S121P possibly damaging Het
Actr2 T C 11: 20,030,124 (GRCm39) T212A probably damaging Het
Adcy10 T A 1: 165,347,088 (GRCm39) D368E probably benign Het
Albfm1 A T 5: 90,725,786 (GRCm39) T333S probably benign Het
Anapc15 T C 7: 101,547,747 (GRCm39) probably benign Het
Aox4 A G 1: 58,256,678 (GRCm39) R67G probably benign Het
Aox4 A G 1: 58,286,459 (GRCm39) D697G probably damaging Het
Arhgap42 A T 9: 9,005,766 (GRCm39) S755T probably benign Het
Atm A G 9: 53,415,248 (GRCm39) V881A probably benign Het
Cdkal1 C T 13: 29,809,948 (GRCm39) probably benign Het
Cfap20dc A C 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap61 C A 2: 145,877,215 (GRCm39) N491K possibly damaging Het
Chgb T C 2: 132,627,897 (GRCm39) probably benign Het
Chrna1 C A 2: 73,398,426 (GRCm39) probably benign Het
Chst10 A G 1: 38,904,844 (GRCm39) L283P probably damaging Het
Clca3a1 A G 3: 144,466,323 (GRCm39) probably null Het
Crppa A T 12: 36,440,467 (GRCm39) H125L probably damaging Het
Cryzl1 G T 16: 91,496,175 (GRCm39) A1E possibly damaging Het
Csnk1a1 T C 18: 61,709,618 (GRCm39) Y213H probably damaging Het
Cspg4 A G 9: 56,805,375 (GRCm39) Q2062R probably benign Het
Ctnnal1 A G 4: 56,835,348 (GRCm39) C310R probably benign Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
D930048N14Rik T C 11: 51,545,755 (GRCm39) probably benign Het
Dag1 G A 9: 108,085,684 (GRCm39) P486S possibly damaging Het
Dgkq A G 5: 108,804,361 (GRCm39) L33P probably benign Het
Dlc1 C T 8: 37,051,164 (GRCm39) G856R probably damaging Het
Dst T A 1: 34,258,612 (GRCm39) probably benign Het
Egfr T G 11: 16,822,855 (GRCm39) L406R probably damaging Het
Elp3 A T 14: 65,800,695 (GRCm39) probably null Het
Fbxw19 C A 9: 109,310,621 (GRCm39) probably null Het
Frs2 T C 10: 116,910,570 (GRCm39) E264G possibly damaging Het
Fscn2 G T 11: 120,252,706 (GRCm39) V58L probably damaging Het
Gm17324 G A 9: 78,356,007 (GRCm39) probably benign Het
Gm4787 A T 12: 81,425,086 (GRCm39) N357K probably benign Het
Gm9956 G T 10: 56,621,291 (GRCm39) Het
Gsg1l C T 7: 125,619,795 (GRCm39) probably null Het
Herc1 G A 9: 66,352,927 (GRCm39) V2138M possibly damaging Het
Htr2a T C 14: 74,943,764 (GRCm39) L448P probably benign Het
Ing3 C T 6: 21,970,034 (GRCm39) S255L probably damaging Het
Krt78 T C 15: 101,859,384 (GRCm39) D271G probably damaging Het
Lmbrd2 T A 15: 9,194,816 (GRCm39) L606H probably damaging Het
Lmod1 T A 1: 135,252,906 (GRCm39) N53K probably damaging Het
Lsr G C 7: 30,657,763 (GRCm39) A467G probably benign Het
Mbtd1 T A 11: 93,823,038 (GRCm39) probably null Het
Mill1 T A 7: 17,998,802 (GRCm39) Y337* probably null Het
Mlxipl A T 5: 135,166,117 (GRCm39) Q833L probably benign Het
Mon2 C T 10: 122,874,515 (GRCm39) V278M probably damaging Het
Mxra8 A C 4: 155,926,190 (GRCm39) M180L probably benign Het
Myo18a A T 11: 77,702,420 (GRCm39) probably benign Het
Myo1c T G 11: 75,556,657 (GRCm39) probably null Het
Myo1g T C 11: 6,460,203 (GRCm39) T782A probably benign Het
Ncapd3 A G 9: 26,975,401 (GRCm39) probably benign Het
Neb T C 2: 52,198,699 (GRCm39) D414G probably damaging Het
Nedd4l T A 18: 65,328,256 (GRCm39) probably benign Het
Nf2 T C 11: 4,741,185 (GRCm39) K343R possibly damaging Het
Nfasc A T 1: 132,531,584 (GRCm39) D733E possibly damaging Het
Nolc1 G A 19: 46,072,598 (GRCm39) D699N probably damaging Het
Nrbp2 C T 15: 75,960,825 (GRCm39) A45T probably benign Het
Obscn A G 11: 58,952,348 (GRCm39) V3907A possibly damaging Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or2y6 T C 11: 52,104,576 (GRCm39) Q80R possibly damaging Het
Or8b8 A T 9: 37,809,351 (GRCm39) Y217F probably damaging Het
Pank2 C T 2: 131,124,526 (GRCm39) T290I probably damaging Het
Pbx4 T C 8: 70,317,529 (GRCm39) V171A probably benign Het
Pcgf1 G T 6: 83,057,555 (GRCm39) V75F probably damaging Het
Pik3ca T C 3: 32,515,660 (GRCm39) S778P probably damaging Het
Pld6 T C 11: 59,676,047 (GRCm39) I141M probably damaging Het
Polq T A 16: 36,914,864 (GRCm39) V2508E probably damaging Het
Prkca C G 11: 107,905,202 (GRCm39) D179H possibly damaging Het
Pspn T C 17: 57,306,720 (GRCm39) S70G probably damaging Het
Ptchd4 C T 17: 42,814,637 (GRCm39) T846I probably benign Het
Reg3g A C 6: 78,444,827 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,704,139 (GRCm39) H2062Y probably benign Het
Rsph4a C T 10: 33,788,987 (GRCm39) Q611* probably null Het
Scart1 C A 7: 139,804,873 (GRCm39) C625* probably null Het
Scgb1b20 G A 7: 33,072,739 (GRCm39) probably null Het
Sfxn5 T C 6: 85,246,955 (GRCm39) probably benign Het
Sh3tc1 T A 5: 35,857,651 (GRCm39) Q1179L possibly damaging Het
Skint11 A G 4: 114,051,762 (GRCm39) I37V probably benign Het
Slc35f5 T C 1: 125,503,906 (GRCm39) probably benign Het
Slc8a2 A C 7: 15,891,264 (GRCm39) D768A probably damaging Het
Slco6b1 A G 1: 96,924,909 (GRCm39) noncoding transcript Het
Smurf2 T A 11: 106,726,931 (GRCm39) T453S probably benign Het
Spag16 A G 1: 70,532,927 (GRCm39) probably benign Het
Spindoc G A 19: 7,351,509 (GRCm39) T205I probably benign Het
Stab1 T C 14: 30,870,902 (GRCm39) I1316V probably benign Het
Stox2 T C 8: 47,646,900 (GRCm39) R187G probably damaging Het
Tcea2 A C 2: 181,326,274 (GRCm39) T93P probably benign Het
Tenm4 T C 7: 96,544,830 (GRCm39) M2311T probably benign Het
Tmem63a A G 1: 180,788,026 (GRCm39) Q260R probably benign Het
Tnpo2 A T 8: 85,780,158 (GRCm39) H698L probably benign Het
Trim33 A G 3: 103,217,700 (GRCm39) D215G probably damaging Het
Ttc3 T A 16: 94,227,071 (GRCm39) I727N probably damaging Het
Ttn T A 2: 76,773,669 (GRCm39) K2271N probably damaging Het
Ubr2 T A 17: 47,297,705 (GRCm39) K223* probably null Het
Ubr4 A G 4: 139,144,186 (GRCm39) M1410V possibly damaging Het
Ugt2b35 T C 5: 87,151,271 (GRCm39) probably benign Het
Ulk4 T A 9: 120,981,391 (GRCm39) H880L probably benign Het
Unc80 G A 1: 66,661,633 (GRCm39) C1686Y possibly damaging Het
Upf2 T A 2: 5,962,478 (GRCm39) L60Q unknown Het
Usf2 A T 7: 30,654,161 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,586 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,588 (GRCm39) probably benign Het
Vmn2r118 T A 17: 55,917,970 (GRCm39) K181* probably null Het
Vmn2r124 T A 17: 18,293,991 (GRCm39) S693T possibly damaging Het
Vmn2r76 C A 7: 85,877,987 (GRCm39) G470V probably benign Het
Vps13c A C 9: 67,838,017 (GRCm39) I1856L probably benign Het
Vps50 C T 6: 3,520,210 (GRCm39) L119F probably damaging Het
Wdfy3 T A 5: 102,038,655 (GRCm39) S2012C probably damaging Het
Zfp1008 A C 13: 62,753,029 (GRCm39) V99G possibly damaging Het
Zfp142 A G 1: 74,610,714 (GRCm39) V924A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp235 T C 7: 23,841,644 (GRCm39) S688P probably damaging Het
Zfp39 C T 11: 58,780,813 (GRCm39) V650I probably benign Het
Zfp82 A T 7: 29,756,265 (GRCm39) N272K probably damaging Het
Zfyve21 A C 12: 111,789,698 (GRCm39) D54A possibly damaging Het
Zfyve26 C T 12: 79,291,258 (GRCm39) D2116N probably 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
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
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'- TGGAGGCACTTATCTCTCACCTATCAC -3'
(R):5'- GGGCCAGTACCACTCTTGATTTAGTC -3'

Sequencing Primer
(F):5'- ATTCCACCCAAGCTGTCCAT -3'
(R):5'- aaatctgcctgcctctgac -3'
Posted On 2013-06-12