Incidental Mutation 'IGL02408:Dtl'
ID 292177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtl
Ensembl Gene ENSMUSG00000037474
Gene Name denticleless E3 ubiquitin protein ligase
Synonyms 5730564G15Rik, 2810047L02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02408
Quality Score
Status
Chromosome 1
Chromosomal Location 191269468-191307656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 191273352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 519 (S519P)
Ref Sequence ENSEMBL: ENSMUSP00000027933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027933] [ENSMUST00000195650]
AlphaFold Q3TLR7
Predicted Effect probably benign
Transcript: ENSMUST00000027933
AA Change: S519P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: S519P

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: ENSMUST00000192556
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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,621,130 (GRCm39) Y278C probably damaging Het
Abcd2 A G 15: 91,062,444 (GRCm39) L498P possibly damaging Het
Acot11 A G 4: 106,615,578 (GRCm39) F271S probably damaging Het
Acr T A 15: 89,454,217 (GRCm39) Y185N probably damaging Het
Adcy10 C T 1: 165,365,949 (GRCm39) R489C probably damaging Het
Arsb A G 13: 93,930,670 (GRCm39) T213A probably benign Het
Atg2a T A 19: 6,291,858 (GRCm39) C11* probably null Het
B3galt6 A T 4: 156,076,152 (GRCm39) Y308N probably damaging Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Crat T A 2: 30,297,146 (GRCm39) D269V probably damaging Het
Crim1 T A 17: 78,623,083 (GRCm39) I427N possibly damaging Het
Dock3 T C 9: 106,790,298 (GRCm39) probably benign Het
Dsg1c T A 18: 20,407,776 (GRCm39) V374E probably damaging Het
Fastkd1 C T 2: 69,532,945 (GRCm39) R474H probably benign Het
Fbxo10 T C 4: 45,058,361 (GRCm39) T459A possibly damaging Het
Frmd4b A G 6: 97,272,770 (GRCm39) L828P probably damaging Het
Gc T C 5: 89,593,255 (GRCm39) S55G probably benign Het
Gm6455 T G 5: 10,917,257 (GRCm39) noncoding transcript Het
Gnai2 T C 9: 107,493,393 (GRCm39) T280A probably benign Het
Hmgn2 A G 4: 133,693,260 (GRCm39) probably null Het
Jmjd1c G T 10: 67,062,161 (GRCm39) A1505S probably benign Het
Lrriq1 T C 10: 102,982,142 (GRCm39) K1393E probably benign Het
Mcam A G 9: 44,051,547 (GRCm39) N469D probably benign Het
Mrpl47 A G 3: 32,790,789 (GRCm39) probably null Het
Mslnl C T 17: 25,966,972 (GRCm39) A659V possibly damaging Het
Nlrp1a A G 11: 71,013,456 (GRCm39) V598A probably benign Het
Npff A T 15: 102,433,000 (GRCm39) L15Q probably null Het
Obsl1 G T 1: 75,481,890 (GRCm39) Q327K probably damaging Het
Or13a18 T C 7: 140,190,844 (GRCm39) V255A probably damaging Het
Or4c58 T A 2: 89,675,315 (GRCm39) M1L probably benign Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Or7e165 A T 9: 19,694,711 (GRCm39) Y94F probably benign Het
Or8b50 G A 9: 38,518,417 (GRCm39) G219S possibly damaging Het
Pdzd2 T A 15: 12,375,851 (GRCm39) H1428L probably benign Het
Phldb1 T C 9: 44,627,203 (GRCm39) E414G possibly damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Secisbp2l G T 2: 125,582,789 (GRCm39) S889* probably null Het
Setx T A 2: 29,023,942 (GRCm39) C133S probably damaging Het
Slc22a29 A C 19: 8,184,649 (GRCm39) S214A probably benign Het
Slc30a5 A C 13: 100,950,232 (GRCm39) L285R probably damaging Het
Taar7a T G 10: 23,868,500 (GRCm39) I294L probably benign Het
Tfap2b T A 1: 19,304,485 (GRCm39) F414I probably damaging Het
Trpc4ap A T 2: 155,512,989 (GRCm39) Y129N possibly damaging Het
Vmn2r94 T C 17: 18,473,523 (GRCm39) E501G probably benign Het
Xpot T C 10: 121,439,070 (GRCm39) H709R probably damaging Het
Zfhx3 T A 8: 109,682,004 (GRCm39) probably benign Het
Zscan22 T G 7: 12,640,426 (GRCm39) H223Q 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
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
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
Posted On 2015-04-16