Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Dtl'

455220

Institutional Source

Beutler Lab

Gene Symbol

Dtl

Ensembl Gene

ENSMUSG00000037474

Gene Name

denticleless E3 ubiquitin protein ligase

Synonyms

5730564G15Rik, 2810047L02Rik

MMRRC Submission

044079-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

191269468-191307656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 191278680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 394 (L394P)

Ref Sequence

ENSEMBL: ENSMUSP00000027933 (fasta)

Gene Model

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

AlphaFold

Q3TLR7

Predicted Effect

probably benign
Transcript: ENSMUST00000027933
AA Change: L394P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: L394P

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Abca9	T	G	11: 110,007,902 (GRCm39)	R1232S	possibly damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Col1a2	G	A	6: 4,531,926 (GRCm39)	S782N	unknown	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Ehhadh	T	C	16: 21,585,305 (GRCm39)	E192G	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Galnt14	C	T	17: 73,881,826 (GRCm39)	R91Q	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Or8b53	T	A	9: 38,667,412 (GRCm39)	Y143N	probably benign	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	probably 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
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
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'- GCTCCCATAGTACACAGTAGGAC -3'
(R):5'- TGATTCTGAAGCACGAGGG -3'

Sequencing Primer
(F):5'- TAGTACACAGTAGGACTCAACTAAC -3'
(R):5'- TGTCATCTGTTTTATGTTACAGCAG -3'

Posted On

2017-02-10