Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Dtl'

275016

Institutional Source

Beutler Lab

Gene Symbol

Dtl

Ensembl Gene

ENSMUSG00000037474

Gene Name

denticleless E3 ubiquitin protein ligase

Synonyms

5730564G15Rik, 2810047L02Rik

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

191537356-191575544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 191548354 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 356 (L356R)

Ref Sequence

ENSEMBL: ENSMUSP00000027933 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027933
AA Change: L356R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: L356R

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,258,797	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr127	T	C	17: 37,903,573	V9A	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rdh16f1	T	A	10: 127,788,699	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401	R632H	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
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
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
X0018:Dtl	UTSW	1	191568410	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGGAAATACATCTGGATGC -3'
(R):5'- TGAACTTCAGTGCTCAGTGG -3'

Sequencing Primer
(F):5'- CGGGAAATACATCTGGATGCTTTTAC -3'
(R):5'- CTGAGGGACAGTGCCAAAAC -3'

Posted On

2015-04-02