Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Dtx3'

34792

Institutional Source

Beutler Lab

Gene Symbol

Dtx3

Ensembl Gene

ENSMUSG00000040415

Gene Name

deltex 3, E3 ubiquitin ligase

Synonyms

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R0257 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

127190378-127195728 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127192892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 159 (D159G)

Ref Sequence

ENSEMBL: ENSMUSP00000114776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013970] [ENSMUST00000019611] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000137151] [ENSMUST00000144322] [ENSMUST00000167353] [ENSMUST00000222006] [ENSMUST00000218587] [ENSMUST00000218654] [ENSMUST00000219245]

AlphaFold

Q80V91

Predicted Effect

probably benign
Transcript: ENSMUST00000013970

SMART Domains

Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
PIPKc	72	420	2.3e-172	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019611

SMART Domains

Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	81	103	N/A	INTRINSIC
low complexity region	146	171	N/A	INTRINSIC
RhoGEF	203	374	2.45e-49	SMART
PH	394	507	6.67e-1	SMART
low complexity region	561	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038217
AA Change: D156G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
AA Change: D156G

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116229
AA Change: D156G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: D156G

Domain	Start	End	E-Value	Type
low complexity region	64	72	N/A	INTRINSIC
coiled coil region	73	104	N/A	INTRINSIC
low complexity region	119	154	N/A	INTRINSIC
RING	164	202	1.04e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125254

Predicted Effect

probably benign
Transcript: ENSMUST00000130855
AA Change: D159G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
AA Change: D159G

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC
low complexity region	122	157	N/A	INTRINSIC
RING	167	205	1.04e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137151

Predicted Effect

probably benign
Transcript: ENSMUST00000144322

SMART Domains

Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415

Domain	Start	End	E-Value	Type
low complexity region	67	75	N/A	INTRINSIC
coiled coil region	76	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167353

SMART Domains

Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467

Domain	Start	End	E-Value	Type
low complexity region	72	94	N/A	INTRINSIC
low complexity region	137	162	N/A	INTRINSIC
RhoGEF	194	365	2.45e-49	SMART
PH	385	498	6.67e-1	SMART
low complexity region	552	560	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219649

Predicted Effect

probably benign
Transcript: ENSMUST00000222006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219079

Predicted Effect

probably benign
Transcript: ENSMUST00000218587

Predicted Effect

probably benign
Transcript: ENSMUST00000218654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218478

Predicted Effect

probably benign
Transcript: ENSMUST00000219245

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Dtx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02131:Dtx3	APN	10	127193279	missense	probably damaging	0.99
IGL02314:Dtx3	APN	10	127190959	unclassified	probably benign
R1108:Dtx3	UTSW	10	127191289	missense	possibly damaging	0.84
R1422:Dtx3	UTSW	10	127191289	missense	possibly damaging	0.84
R3693:Dtx3	UTSW	10	127191424	missense	probably benign	0.33
R4016:Dtx3	UTSW	10	127191171	missense	probably benign	0.00
R4231:Dtx3	UTSW	10	127193189	missense	possibly damaging	0.92
R4232:Dtx3	UTSW	10	127193189	missense	possibly damaging	0.92
R4236:Dtx3	UTSW	10	127193189	missense	possibly damaging	0.92
R4590:Dtx3	UTSW	10	127192695	missense	probably damaging	0.99
R4838:Dtx3	UTSW	10	127191307	splice site	probably null
R5338:Dtx3	UTSW	10	127193050	missense	probably benign	0.23
R5510:Dtx3	UTSW	10	127192938	missense	probably benign	0.08
R6989:Dtx3	UTSW	10	127192877	missense	probably benign	0.01
R7225:Dtx3	UTSW	10	127191489	missense	probably damaging	0.99
R8137:Dtx3	UTSW	10	127193172	missense	possibly damaging	0.85
R8293:Dtx3	UTSW	10	127191013	missense	probably damaging	1.00
R8411:Dtx3	UTSW	10	127192824	missense	possibly damaging	0.55
R9080:Dtx3	UTSW	10	127191268	missense	possibly damaging	0.68
R9663:Dtx3	UTSW	10	127192649	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATACTTCTCGTAGCTGGGCAGCAG -3'
(R):5'- AGGCTCTCAAGGGGCTACTGAAAG -3'

Sequencing Primer
(F):5'- TCCTTGGAGACCAGCATCC -3'
(R):5'- CTAAAGAAAGCCCAGAGGCAG -3'

Posted On

2013-05-09