Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Dtl'

555556

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 #

PIT4418001 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

191537356-191575544 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 191541317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 493 (L493H)

Ref Sequence

ENSEMBL: ENSMUSP00000027933 (fasta)

Gene Model

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

AlphaFold

Q3TLR7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027933
AA Change: L493H

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: L493H

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: 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

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,839,648	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,243,724	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,024,587	I1049F	probably benign	Het
Atg9b	A	T	5: 24,385,515	S859T	possibly damaging	Het
Banp	G	A	8: 122,005,626	A380T	probably damaging	Het
Brinp3	C	T	1: 146,901,423	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,654,423	E1155G		Het
Capn12	T	C	7: 28,886,536	S270P	probably benign	Het
Cbs	A	T	17: 31,615,521	I498N	possibly damaging	Het
Ccdc129	T	G	6: 55,968,345	S684A	probably damaging	Het
Cep68	T	C	11: 20,239,731	K427R	probably benign	Het
Cobl	G	A	11: 12,256,240	T545I	possibly damaging	Het
Cr2	T	A	1: 195,157,452	M556L	probably benign	Het
Crebbp	A	G	16: 4,114,825	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,838,868	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,081,261	L159P		Het
Dnajb4	A	T	3: 152,193,497	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,770,949	F369S	probably damaging	Het
Efcab5	T	A	11: 77,132,051	Q612L	possibly damaging	Het
Efr3b	A	T	12: 3,980,490	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,053,494	Q1085L	probably damaging	Het
Ell	T	C	8: 70,581,681	V199A	probably damaging	Het
Elmod2	G	T	8: 83,321,542	T97K	probably benign	Het
Epn3	T	C	11: 94,496,130	E138G	probably damaging	Het
Esf1	A	T	2: 140,159,777	F383L	probably benign	Het
Fam193a	A	T	5: 34,440,535	T559S	probably damaging	Het
Galr2	T	C	11: 116,283,258	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411	I237M	probably benign	Het
Gm5160	A	T	18: 14,425,282	I139F	probably damaging	Het
Gpr15	T	C	16: 58,717,950	T259A	probably benign	Het
Iffo1	A	G	6: 125,149,783	K293E	possibly damaging	Het
Ikbip	T	A	10: 91,096,533	H346Q	probably benign	Het
Il4ra	G	A	7: 125,576,338	G573S	probably benign	Het
Ing2	A	T	8: 47,669,090	M141K	probably benign	Het
Itga6	T	C	2: 71,834,070	S517P	probably benign	Het
Kcnab1	A	G	3: 65,358,320	E295G	probably benign	Het
Klhl21	A	C	4: 152,015,378	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,824,541	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,667,052	L64F	probably null	Het
Mos	T	C	4: 3,870,814	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,322,947	F338V	probably damaging	Het
Nefl	G	A	14: 68,086,530	V406M	probably damaging	Het
Nfam1	C	A	15: 83,001,488	R181L	probably damaging	Het
Ntn5	A	G	7: 45,686,501	R119G	probably damaging	Het
Olfr1145	G	T	2: 87,810,594	C258F	probably damaging	Het
Olfr1453	A	T	19: 13,027,731	Y199*	probably null	Het
Olfr19	T	C	16: 16,673,855	N42S	probably damaging	Het
Plch2	A	T	4: 154,989,503	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,501,267	Q111R	probably null	Het
Ptchd3	T	A	11: 121,841,740	Y485*	probably null	Het
Ptchd4	T	A	17: 42,503,089	I627N	probably damaging	Het
Retnlb	T	C	16: 48,817,268	V19A	probably benign	Het
Rimbp2	T	A	5: 128,780,361	T809S	probably benign	Het
Sema6c	T	A	3: 95,170,090	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,603,825	A631V	unknown	Het
Snai3	A	T	8: 122,456,334	H157Q	probably benign	Het
Snx15	T	C	19: 6,123,931	Y52C	probably damaging	Het
Strbp	T	C	2: 37,645,492	E68G	probably benign	Het
Sun1	T	A	5: 139,226,588	D155E	probably damaging	Het
Susd2	T	C	10: 75,638,349	D627G	probably benign	Het
Tas2r108	T	A	6: 40,493,680	I30K	probably damaging	Het
Tmc2	T	C	2: 130,248,651	V639A	probably damaging	Het
Trmt1	T	C	8: 84,697,670	Y445H	probably damaging	Het
Ttn	A	T	2: 76,767,210	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 12,176,839	V216G	probably damaging	Het
Wdr64	C	A	1: 175,743,594	Y331*	probably null	Het
Zfyve28	A	T	5: 34,233,377	V180E	probably damaging	Het
Zic4	C	T	9: 91,379,394	T234I	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
IGL02897:Dtl	APN	1	191541544	splice site	probably benign
IGL03069:Dtl	APN	1	191556896	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGACAGCTTGAGTCAAGACG -3'
(R):5'- AGAGTACTCCTGCCAAAGCTC -3'

Sequencing Primer
(F):5'- AGCTTGAGTCAAGACGCCTCTTC -3'
(R):5'- TCCTGCCAAAGCTCCCAGAG -3'

Posted On

2019-06-07