Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02408:Dtl'

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

Chromosomal Location

191537356-191575544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 191541240 bp (GRCm38)

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,644,171	Y278C	probably damaging	Het
Abcd2	A	G	15: 91,178,241	L498P	possibly damaging	Het
Acot11	A	G	4: 106,758,381	F271S	probably damaging	Het
Acr	T	A	15: 89,570,014	Y185N	probably damaging	Het
Adcy10	C	T	1: 165,538,380	R489C	probably damaging	Het
Arsb	A	G	13: 93,794,162	T213A	probably benign	Het
Atg2a	T	A	19: 6,241,828	C11*	probably null	Het
B3galt6	A	T	4: 155,991,695	Y308N	probably damaging	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Crat	T	A	2: 30,407,134	D269V	probably damaging	Het
Crim1	T	A	17: 78,315,654	I427N	possibly damaging	Het
Dock3	T	C	9: 106,913,099		probably benign	Het
Dsg1c	T	A	18: 20,274,719	V374E	probably damaging	Het
Fastkd1	C	T	2: 69,702,601	R474H	probably benign	Het
Fbxo10	T	C	4: 45,058,361	T459A	possibly damaging	Het
Frmd4b	A	G	6: 97,295,809	L828P	probably damaging	Het
Gc	T	C	5: 89,445,396	S55G	probably benign	Het
Gm6455	T	G	5: 10,867,290		noncoding transcript	Het
Gnai2	T	C	9: 107,616,194	T280A	probably benign	Het
Hmgn2	A	G	4: 133,965,949		probably null	Het
Jmjd1c	G	T	10: 67,226,382	A1505S	probably benign	Het
Lrriq1	T	C	10: 103,146,281	K1393E	probably benign	Het
Mcam	A	G	9: 44,140,250	N469D	probably benign	Het
Mrpl47	A	G	3: 32,736,640		probably null	Het
Mslnl	C	T	17: 25,747,998	A659V	possibly damaging	Het
Nlrp1a	A	G	11: 71,122,630	V598A	probably benign	Het
Npff	A	T	15: 102,524,565	L15Q	probably null	Het
Obsl1	G	T	1: 75,505,246	Q327K	probably damaging	Het
Olfr46	T	C	7: 140,610,931	V255A	probably damaging	Het
Olfr48	T	A	2: 89,844,971	M1L	probably benign	Het
Olfr58	A	T	9: 19,783,415	Y94F	probably benign	Het
Olfr591	T	C	7: 103,173,451	Y62C	probably damaging	Het
Olfr914	G	A	9: 38,607,121	G219S	possibly damaging	Het
Pdzd2	T	A	15: 12,375,765	H1428L	probably benign	Het
Phldb1	T	C	9: 44,715,906	E414G	possibly damaging	Het
Reln	T	C	5: 21,901,619	D3251G	probably benign	Het
Secisbp2l	G	T	2: 125,740,869	S889*	probably null	Het
Setx	T	A	2: 29,133,930	C133S	probably damaging	Het
Slc22a29	A	C	19: 8,207,285	S214A	probably benign	Het
Slc30a5	A	C	13: 100,813,724	L285R	probably damaging	Het
Taar7a	T	G	10: 23,992,602	I294L	probably benign	Het
Tfap2b	T	A	1: 19,234,261	F414I	probably damaging	Het
Trpc4ap	A	T	2: 155,671,069	Y129N	possibly damaging	Het
Vmn2r94	T	C	17: 18,253,261	E501G	probably benign	Het
Xpot	T	C	10: 121,603,165	H709R	probably damaging	Het
Zfhx3	T	A	8: 108,955,372		probably benign	Het
Zscan22	T	G	7: 12,906,499	H223Q	probably benign	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
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
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

2015-04-16