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

191269468-191307656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 191273429 bp (GRCm39)

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: 88,816,630 (GRCm39)	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,161,961 (GRCm39)	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,074,587 (GRCm39)	I1049F	probably benign	Het
Atg9b	A	T	5: 24,590,513 (GRCm39)	S859T	possibly damaging	Het
Banp	G	A	8: 122,732,365 (GRCm39)	A380T	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,631,384 (GRCm39)	E1155G		Het
Capn12	T	C	7: 28,585,961 (GRCm39)	S270P	probably benign	Het
Cbs	A	T	17: 31,834,495 (GRCm39)	I498N	possibly damaging	Het
Cep68	T	C	11: 20,189,731 (GRCm39)	K427R	probably benign	Het
Cobl	G	A	11: 12,206,240 (GRCm39)	T545I	possibly damaging	Het
Cr2	T	A	1: 194,839,760 (GRCm39)	M556L	probably benign	Het
Crebbp	A	G	16: 3,932,689 (GRCm39)	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,766,590 (GRCm39)	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,008,999 (GRCm39)	L159P		Het
Dnajb4	A	T	3: 151,899,134 (GRCm39)	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,498,260 (GRCm39)	F369S	probably damaging	Het
Efcab5	T	A	11: 77,022,877 (GRCm39)	Q612L	possibly damaging	Het
Efr3b	A	T	12: 4,030,490 (GRCm39)	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,003,494 (GRCm39)	Q1085L	probably damaging	Het
Ell	T	C	8: 71,034,331 (GRCm39)	V199A	probably damaging	Het
Elmod2	G	T	8: 84,048,171 (GRCm39)	T97K	probably benign	Het
Epn3	T	C	11: 94,386,956 (GRCm39)	E138G	probably damaging	Het
Esf1	A	T	2: 140,001,697 (GRCm39)	F383L	probably benign	Het
Fam193a	A	T	5: 34,597,879 (GRCm39)	T559S	probably damaging	Het
Galr2	T	C	11: 116,174,084 (GRCm39)	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411 (GRCm38)	I237M	probably benign	Het
Gm5160	A	T	18: 14,558,339 (GRCm39)	I139F	probably damaging	Het
Gpr15	T	C	16: 58,538,313 (GRCm39)	T259A	probably benign	Het
Iffo1	A	G	6: 125,126,746 (GRCm39)	K293E	possibly damaging	Het
Ikbip	T	A	10: 90,932,395 (GRCm39)	H346Q	probably benign	Het
Il4ra	G	A	7: 125,175,510 (GRCm39)	G573S	probably benign	Het
Ing2	A	T	8: 48,122,125 (GRCm39)	M141K	probably benign	Het
Itga6	T	C	2: 71,664,414 (GRCm39)	S517P	probably benign	Het
Itprid1	T	G	6: 55,945,330 (GRCm39)	S684A	probably damaging	Het
Kcnab1	A	G	3: 65,265,741 (GRCm39)	E295G	probably benign	Het
Klhl21	A	C	4: 152,099,835 (GRCm39)	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,714,553 (GRCm39)	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,717,052 (GRCm39)	L64F	probably null	Het
Mos	T	C	4: 3,870,814 (GRCm39)	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,775,591 (GRCm39)	F338V	probably damaging	Het
Nefl	G	A	14: 68,323,979 (GRCm39)	V406M	probably damaging	Het
Nfam1	C	A	15: 82,885,689 (GRCm39)	R181L	probably damaging	Het
Ntn5	A	G	7: 45,335,925 (GRCm39)	R119G	probably damaging	Het
Or12e10	G	T	2: 87,640,938 (GRCm39)	C258F	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or7a40	T	C	16: 16,491,719 (GRCm39)	N42S	probably damaging	Het
Plch2	A	T	4: 155,073,960 (GRCm39)	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,504,266 (GRCm39)	Q111R	probably null	Het
Ptchd3	T	A	11: 121,732,566 (GRCm39)	Y485*	probably null	Het
Ptchd4	T	A	17: 42,813,980 (GRCm39)	I627N	probably damaging	Het
Retnlb	T	C	16: 48,637,631 (GRCm39)	V19A	probably benign	Het
Rimbp2	T	A	5: 128,857,425 (GRCm39)	T809S	probably benign	Het
Sema6c	T	A	3: 95,077,401 (GRCm39)	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,479,821 (GRCm39)	A631V	unknown	Het
Snai3	A	T	8: 123,183,073 (GRCm39)	H157Q	probably benign	Het
Snx15	T	C	19: 6,173,961 (GRCm39)	Y52C	probably damaging	Het
Strbp	T	C	2: 37,535,504 (GRCm39)	E68G	probably benign	Het
Sun1	T	A	5: 139,212,343 (GRCm39)	D155E	probably damaging	Het
Susd2	T	C	10: 75,474,183 (GRCm39)	D627G	probably benign	Het
Tas2r108	T	A	6: 40,470,614 (GRCm39)	I30K	probably damaging	Het
Tmc2	T	C	2: 130,090,571 (GRCm39)	V639A	probably damaging	Het
Trmt1	T	C	8: 85,424,299 (GRCm39)	Y445H	probably damaging	Het
Ttn	A	T	2: 76,597,554 (GRCm39)	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 11,910,766 (GRCm39)	V216G	probably damaging	Het
Wdr64	C	A	1: 175,571,160 (GRCm39)	Y331*	probably null	Het
Zfyve28	A	T	5: 34,390,721 (GRCm39)	V180E	probably damaging	Het
Zic4	C	T	9: 91,261,447 (GRCm39)	T234I	possibly damaging	Het

Other mutations in Dtl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Dtl	APN	1	191,278,738 (GRCm39)	splice site	probably null
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
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

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