Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:Dtl'

482115

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 #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

191537356-191575544 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 191568572 bp (GRCm38)

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

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

noncoding transcript
Transcript: ENSMUST00000192014

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

noncoding transcript
Transcript: ENSMUST00000194064

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
F2rl1	T	A	13: 95,514,270	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291	M1I	probably null	Het
March7	C	A	2: 60,245,220	N674K	probably benign	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	probably damaging	Het

Other mutations in Dtl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Dtl	APN	1	191546626	splice site	probably null
IGL01069:Dtl	APN	1	191561539	critical splice acceptor site	probably null
IGL01135:Dtl	APN	1	191548330	missense	probably damaging	1.00
IGL01307:Dtl	APN	1	191570699	missense	possibly damaging	0.78
IGL01461:Dtl	APN	1	191546617	missense	possibly damaging	0.88
IGL01809:Dtl	APN	1	191548303	missense	probably damaging	1.00
IGL01958:Dtl	APN	1	191568377	missense	probably damaging	1.00
IGL02217:Dtl	APN	1	191568314	missense	probably damaging	1.00
IGL02408:Dtl	APN	1	191541240	missense	probably benign	0.00
IGL02445:Dtl	APN	1	191558060	critical splice donor site	probably null
IGL02661:Dtl	APN	1	191541371	missense	probably benign	0.09
IGL02864:Dtl	APN	1	191556826	missense	probably benign	0.04
IGL02897:Dtl	APN	1	191541544	splice site	probably benign
IGL03069:Dtl	APN	1	191556896	splice site	probably benign
PIT4418001:Dtl	UTSW	1	191541317	missense	possibly damaging	0.46
R0370:Dtl	UTSW	1	191575350	missense	probably benign	0.05
R0513:Dtl	UTSW	1	191569707	nonsense	probably null
R1386:Dtl	UTSW	1	191569717	missense	probably damaging	1.00
R1424:Dtl	UTSW	1	191561537	missense	probably benign	0.13
R1575:Dtl	UTSW	1	191561546	splice site	probably null
R2128:Dtl	UTSW	1	191558110	missense	probably damaging	0.99
R2297:Dtl	UTSW	1	191541095	missense	probably benign	0.41
R2344:Dtl	UTSW	1	191548378	missense	probably benign	0.00
R3121:Dtl	UTSW	1	191553063	nonsense	probably null
R3808:Dtl	UTSW	1	191548354	missense	probably damaging	1.00
R4722:Dtl	UTSW	1	191556841	missense	possibly damaging	0.52
R4753:Dtl	UTSW	1	191569703	missense	probably damaging	1.00
R4904:Dtl	UTSW	1	191568345	missense	probably damaging	0.99
R4965:Dtl	UTSW	1	191546565	missense	possibly damaging	0.93
R5068:Dtl	UTSW	1	191568373	missense	probably damaging	1.00
R5119:Dtl	UTSW	1	191541506	missense	probably damaging	1.00
R5872:Dtl	UTSW	1	191546568	missense	probably benign	0.00
R5911:Dtl	UTSW	1	191568407	missense	probably damaging	1.00
R6425:Dtl	UTSW	1	191546623	missense	probably benign	0.02
R7403:Dtl	UTSW	1	191563173	missense	probably damaging	1.00
R8756:Dtl	UTSW	1	191539259	missense	probably benign
R8835:Dtl	UTSW	1	191561497	missense	probably damaging	1.00
R8850:Dtl	UTSW	1	191553063	nonsense	probably null
R9091:Dtl	UTSW	1	191556811	missense	probably damaging	1.00
R9270:Dtl	UTSW	1	191556811	missense	probably damaging	1.00
X0018:Dtl	UTSW	1	191568410	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCTGTAACCTTCCAAAAG -3'
(R):5'- GCCTGTTGATAGTAGAGTACTAGC -3'

Sequencing Primer
(F):5'- CCCTTTATCAGCAGCTAC -3'
(R):5'- TCGTTGCTGTGAACAGACAC -3'

Posted On

2017-06-27