Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00678:Dtl'

10411

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 #

IGL00678

Quality Score

Status

Chromosome

Chromosomal Location

191269468-191307656 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 191278738 bp (GRCm39)

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

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	T	C	2: 59,836,527 (GRCm39)	E2G	unknown	Het
Bbs2	T	A	8: 94,815,795 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,237 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,472,521 (GRCm39)	I477N	possibly damaging	Het
Ercc6l2	T	A	13: 63,992,427 (GRCm39)	V292E	probably damaging	Het
Eri3	A	G	4: 117,422,088 (GRCm39)	H122R	probably benign	Het
Glrx3	T	A	7: 137,054,442 (GRCm39)	V75D	probably damaging	Het
Ifi213	A	G	1: 173,421,619 (GRCm39)		probably benign	Het
Ppp1cb	T	A	5: 32,642,682 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,309 (GRCm39)	T66A	probably damaging	Het
Slco6d1	A	G	1: 98,424,069 (GRCm39)	S574G	probably benign	Het
Tas2r136	A	T	6: 132,754,161 (GRCm39)	L322Q	probably damaging	Het
Tead1	A	G	7: 112,441,087 (GRCm39)		probably null	Het
Tsfm	G	A	10: 126,864,311 (GRCm39)	Q135*	probably null	Het

Other mutations in Dtl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06