Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02897:Dtl'

363461

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02897

Quality Score

Status

Chromosome

Chromosomal Location

191537356-191575544 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 191541544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141218 (fasta)

Gene Model

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

AlphaFold

Q3TLR7

Predicted Effect

probably benign
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: ENSMUST00000192556

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,517,308	E108D	probably benign	Het
Abca7	T	C	10: 80,001,592	F437L	probably damaging	Het
Abi2	T	C	1: 60,448,194	V134A	probably damaging	Het
Ablim2	T	C	5: 35,833,126	I75T	probably damaging	Het
Aldh1a3	A	G	7: 66,427,327	V29A	probably benign	Het
Bptf	T	C	11: 107,047,121	K2715E	probably damaging	Het
Cd163	A	T	6: 124,325,527	S1017C	probably damaging	Het
Cdc14b	T	C	13: 64,247,253	I76V	probably benign	Het
Cers6	T	A	2: 68,934,533	C63*	probably null	Het
Chd9	T	C	8: 90,933,868		probably benign	Het
Col19a1	T	C	1: 24,534,098	N198D	unknown	Het
Cse1l	T	C	2: 166,919,708	C61R	possibly damaging	Het
Cubn	T	C	2: 13,318,312	T2815A	possibly damaging	Het
Cyp19a1	G	T	9: 54,166,911	T453K	possibly damaging	Het
Dlg1	G	T	16: 31,771,856		probably null	Het
Dpp7	T	C	2: 25,353,672	Y339C	probably damaging	Het
Gm5591	T	C	7: 38,520,042	E469G	probably damaging	Het
Ing3	T	A	6: 21,969,326	V202E	probably benign	Het
Inpp5j	A	G	11: 3,500,619	L578P	probably damaging	Het
Irak4	A	G	15: 94,553,991	N155S	probably benign	Het
Kif2b	A	T	11: 91,576,219	S413T	probably damaging	Het
L3mbtl1	A	T	2: 162,965,772	Y490F	probably damaging	Het
Med17	T	G	9: 15,267,534	D447A	probably damaging	Het
Med26	T	C	8: 72,496,521	T245A	probably benign	Het
Nlrc3	A	T	16: 3,964,074	S490R	possibly damaging	Het
Nme5	A	G	18: 34,569,903		probably benign	Het
Olfr611	T	C	7: 103,518,130	R85G	probably benign	Het
Rnf10	G	T	5: 115,248,641	Q530K	probably benign	Het
Robo3	A	T	9: 37,427,502	Y281*	probably null	Het
Sclt1	T	C	3: 41,675,387	I330V	probably benign	Het
Smim14	A	T	5: 65,450,396		probably benign	Het
Trank1	T	G	9: 111,367,517	H1536Q	probably damaging	Het
Tspan18	A	G	2: 93,220,173	L35P	possibly damaging	Het
Ubr4	G	A	4: 139,472,508	V4568M	probably damaging	Het
Vmn1r63	A	G	7: 5,802,745	V296A	possibly 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
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
R5992:Dtl	UTSW	1	191568572	splice site	probably null
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

Posted On

2015-12-18