Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Dtl'

383864

Institutional Source

Beutler Lab

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 #

R4965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

191269468-191307656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191278677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 395 (E395G)

Ref Sequence

ENSEMBL: ENSMUSP00000027933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027933] [ENSMUST00000193977] [ENSMUST00000195650]

AlphaFold

Q3TLR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027933
AA Change: E395G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: E395G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,433 (GRCm39)	T1541A	probably benign	Het
9530002B09Rik	T	C	4: 122,594,285 (GRCm39)	M59T	probably benign	Het
Adam18	C	T	8: 25,131,827 (GRCm39)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,098,872 (GRCm39)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,266,142 (GRCm39)	Y333*	probably null	Het
Agfg2	C	A	5: 137,665,439 (GRCm39)		probably null	Het
Akip1	A	T	7: 109,310,961 (GRCm39)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,630,304 (GRCm39)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,193,358 (GRCm39)	A455E	probably damaging	Het
Amph	G	A	13: 19,321,869 (GRCm39)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,226,376 (GRCm39)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,453,431 (GRCm39)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,857,032 (GRCm39)	A331V	possibly damaging	Het
Btc	T	C	5: 91,510,160 (GRCm39)		probably null	Het
Cacna2d3	A	G	14: 28,704,289 (GRCm39)	F831L	probably benign	Het
Cadm3	G	A	1: 173,164,664 (GRCm39)	P372L	probably damaging	Het
Capn5	A	T	7: 97,775,624 (GRCm39)	M439K	probably damaging	Het
Carf	T	C	1: 60,189,796 (GRCm39)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm39)	R81C	probably benign	Het
Ces2e	G	T	8: 105,660,330 (GRCm39)	R555M	probably benign	Het
Cfap54	T	A	10: 92,902,661 (GRCm39)	I164F	probably benign	Het
Cltc	C	T	11: 86,598,327 (GRCm39)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,232,295 (GRCm39)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,751,435 (GRCm39)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,068,251 (GRCm39)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,067,167 (GRCm39)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,527,460 (GRCm39)	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,307,179 (GRCm39)	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,929,697 (GRCm39)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,961,820 (GRCm39)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cux1	A	T	5: 136,340,410 (GRCm39)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,000,206 (GRCm39)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,508,710 (GRCm39)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,861,861 (GRCm39)	V135M	probably damaging	Het
Dyrk1a	G	T	16: 94,492,854 (GRCm39)	G658*	probably null	Het
Erlin2	T	C	8: 27,519,623 (GRCm39)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,984,173 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,874,439 (GRCm39)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,071,837 (GRCm39)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,482,881 (GRCm39)	Y137C	probably damaging	Het
Helz2	A	G	2: 180,882,709 (GRCm39)	V28A	possibly damaging	Het
Hydin	A	G	8: 111,124,727 (GRCm39)	I579V	probably benign	Het
Il6	A	T	5: 30,218,491 (GRCm39)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,135,409 (GRCm39)	D368G	probably damaging	Het
Junb	T	A	8: 85,704,788 (GRCm39)	I91F	probably damaging	Het
Kat2a	C	A	11: 100,603,029 (GRCm39)		probably benign	Het
Kat2a	A	T	11: 100,603,030 (GRCm39)		probably benign	Het
Kcnh5	T	A	12: 75,011,925 (GRCm39)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,227,843 (GRCm39)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,261,621 (GRCm39)	K218E	probably damaging	Het
Krt8	C	T	15: 101,905,386 (GRCm39)	V488M	probably benign	Het
Lzts1	C	T	8: 69,591,414 (GRCm39)	A245T	probably benign	Het
Mcm6	T	A	1: 128,287,223 (GRCm39)	Q27L	probably damaging	Het
Mfsd4b3-ps	G	T	10: 39,823,686 (GRCm39)	Y191*	probably null	Het
Mgme1	C	T	2: 144,118,324 (GRCm39)	Q199*	probably null	Het
Mgme1	T	C	2: 144,121,540 (GRCm39)	L332P	probably benign	Het
Morc3	G	T	16: 93,657,475 (GRCm39)	E25*	probably null	Het
Mroh7	G	A	4: 106,548,184 (GRCm39)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,644,027 (GRCm39)	R174H	probably benign	Het
Mybpc3	G	A	2: 90,949,592 (GRCm39)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,395,764 (GRCm39)	N733K	probably damaging	Het
N4bp1	T	C	8: 87,578,314 (GRCm39)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,202,625 (GRCm39)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,799,026 (GRCm39)	S364T	probably benign	Het
Nipal4	C	A	11: 46,052,837 (GRCm39)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 70,983,141 (GRCm39)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,767,618 (GRCm39)	L8*	probably null	Het
Odam	G	T	5: 88,037,967 (GRCm39)	G181*	probably null	Het
Optn	T	A	2: 5,026,190 (GRCm39)	Q576L	probably benign	Het
Or2c1	T	C	16: 3,657,434 (GRCm39)	L199P	probably damaging	Het
Or4k47	T	C	2: 111,451,879 (GRCm39)	D180G	probably damaging	Het
Or4l1	C	T	14: 50,166,354 (GRCm39)	V216I	probably benign	Het
Or51a39	A	T	7: 102,362,702 (GRCm39)	I306N	probably damaging	Het
Or5as1	T	A	2: 86,981,003 (GRCm39)	M1L	possibly damaging	Het
Or5h18	A	T	16: 58,847,696 (GRCm39)	D191E	probably damaging	Het
Or8s2	T	C	15: 98,277,030 (GRCm39)		probably benign	Het
Patl2	G	T	2: 121,959,329 (GRCm39)	S45*	probably null	Het
Pde2a	G	A	7: 101,152,140 (GRCm39)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,405,464 (GRCm39)		probably benign	Het
Per1	T	C	11: 68,995,227 (GRCm39)	V653A	probably benign	Het
Phlda2	A	G	7: 143,056,005 (GRCm39)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,021,706 (GRCm39)	M167K	possibly damaging	Het
Potegl	C	A	2: 23,135,127 (GRCm39)	T312K	probably benign	Het
Prpf38a	T	C	4: 108,436,278 (GRCm39)	I12V	probably benign	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,315,448 (GRCm39)	M1K	probably null	Het
Rdh5	A	G	10: 128,749,653 (GRCm39)	Y296H	probably damaging	Het
Resf1	G	T	6: 149,229,896 (GRCm39)	G981*	probably null	Het
Rnf2	T	A	1: 151,348,968 (GRCm39)	K51*	probably null	Het
Rpusd3	C	A	6: 113,393,809 (GRCm39)	R215L	probably benign	Het
Rsph4a	A	T	10: 33,785,236 (GRCm39)	E382D	probably damaging	Het
S1pr2	G	A	9: 20,879,745 (GRCm39)	Q28*	probably null	Het
Sesn1	A	T	10: 41,771,005 (GRCm39)	I179F	probably damaging	Het
Setd3	T	A	12: 108,079,630 (GRCm39)	E291V	probably benign	Het
Shc1	G	T	3: 89,334,303 (GRCm39)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,782,352 (GRCm39)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,848,677 (GRCm39)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,312,412 (GRCm39)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,311,761 (GRCm39)	I127L	probably benign	Het
Speg	G	T	1: 75,404,347 (GRCm39)	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,779,337 (GRCm39)	D298G	probably benign	Het
Srm	T	C	4: 148,678,640 (GRCm39)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,012,938 (GRCm39)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,627 (GRCm39)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,854,169 (GRCm39)	K284*	probably null	Het
Tfcp2	T	C	15: 100,423,531 (GRCm39)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,423,073 (GRCm39)	V206A	probably damaging	Het
Tgtp2	A	G	11: 48,950,237 (GRCm39)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,410,710 (GRCm39)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,685,552 (GRCm39)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,239,819 (GRCm39)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,404,478 (GRCm39)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,364,400 (GRCm39)	D669V	probably damaging	Het
Zfp108	A	T	7: 23,959,573 (GRCm39)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,228,131 (GRCm39)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,787,910 (GRCm39)	S359P	probably benign	Het

Other mutations in Dtl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTCCCATAGTACACAGTAGGACTC -3'
(R):5'- ATGATTCTGAAGCACGAGGG -3'

Sequencing Primer
(F):5'- TAGTACACAGTAGGACTCAACTAAC -3'
(R):5'- GTCATCTGTTTTATGTTACAGCAGAG -3'

Posted On

2016-04-27