Mutagenetix > Incidental Mutation

Incidental Mutation 'R4590:Dtx3'

342760

Institutional Source

Beutler Lab

Gene Symbol

Dtx3

Ensembl Gene

ENSMUSG00000040415

Gene Name

deltex 3, E3 ubiquitin ligase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.369) question?

Stock #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127026247-127031597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127028564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 222 (S222P)

Ref Sequence

ENSEMBL: ENSMUSP00000111937 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000038217
AA Change: S222P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
AA Change: S222P

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 damaging
Transcript: ENSMUST00000116229
AA Change: S222P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: S222P

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 damaging
Transcript: ENSMUST00000130855
AA Change: S225P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
AA Change: S225P

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

noncoding transcript
Transcript: ENSMUST00000181578

Predicted Effect

probably benign
Transcript: ENSMUST00000222006

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: ENSMUST00000219245

Predicted Effect

probably benign
Transcript: ENSMUST00000218654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218478

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: ENSMUST00000219649

Predicted Effect

probably benign
Transcript: ENSMUST00000218587

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,716,697 (GRCm39)	D201E	probably damaging	Het
Ano10	T	A	9: 122,086,231 (GRCm39)	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,555,646 (GRCm39)	L319*	probably null	Het
Cacna1e	T	C	1: 154,312,265 (GRCm39)	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,949,862 (GRCm39)	Y315*	probably null	Het
Cndp2	C	A	18: 84,687,933 (GRCm39)	V353F	probably damaging	Het
Ctsq	T	A	13: 61,184,028 (GRCm39)	N298I	probably benign	Het
Dnah6	A	T	6: 73,129,695 (GRCm39)	C1173S	probably damaging	Het
Dnah9	T	C	11: 65,931,218 (GRCm39)	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,363,237 (GRCm39)	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,293,045 (GRCm39)	V76L	probably damaging	Het
Dsc3	A	C	18: 20,122,752 (GRCm39)	C57W	probably damaging	Het
Eml5	T	C	12: 98,803,600 (GRCm39)	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,234,093 (GRCm39)	I122V	probably benign	Het
Fgr	T	A	4: 132,722,364 (GRCm39)	V211E	probably damaging	Het
Flvcr1	T	C	1: 190,744,343 (GRCm39)	T402A	probably benign	Het
Frmd5	C	T	2: 121,595,512 (GRCm39)		probably null	Het
Fut2	T	C	7: 45,300,370 (GRCm39)	N134S	possibly damaging	Het
Gm10110	A	T	14: 90,134,982 (GRCm39)		noncoding transcript	Het
Gm7275	A	T	16: 47,893,982 (GRCm39)		noncoding transcript	Het
Gm904	T	A	13: 50,799,285 (GRCm39)	C81*	probably null	Het
Herc1	T	A	9: 66,344,946 (GRCm39)	V1913E	probably damaging	Het
Hnmt	T	C	2: 23,909,111 (GRCm39)		probably null	Het
Ift172	T	C	5: 31,411,299 (GRCm39)	E1643G	probably damaging	Het
Inpp4b	T	A	8: 82,468,040 (GRCm39)	M1K	probably null	Het
Keap1	G	T	9: 21,148,905 (GRCm39)	A34D	probably damaging	Het
Krt25	T	C	11: 99,208,854 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,865,410 (GRCm39)	V2916A	probably benign	Het
Ly9	G	A	1: 171,421,443 (GRCm39)	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,205,280 (GRCm39)	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,937,797 (GRCm39)	C265F	probably damaging	Het
Mrgprb5	C	T	7: 47,817,809 (GRCm39)	E309K	probably benign	Het
Nrtn	T	C	17: 57,058,504 (GRCm39)	T166A	probably damaging	Het
Odr4	A	G	1: 150,262,103 (GRCm39)		probably null	Het
Or8g50	T	C	9: 39,648,146 (GRCm39)	F12L	probably damaging	Het
Osbpl7	T	A	11: 96,947,098 (GRCm39)	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,555,549 (GRCm39)	I293T	probably damaging	Het
Pes1	A	G	11: 3,927,986 (GRCm39)	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,551,339 (GRCm39)	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,174,789 (GRCm39)	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,865,322 (GRCm39)	L737*	probably null	Het
Rcor3	A	T	1: 191,810,217 (GRCm39)	F153L	probably damaging	Het
Rev3l	G	A	10: 39,682,929 (GRCm39)	C349Y	probably damaging	Het
Rnf115	C	T	3: 96,695,889 (GRCm39)	T225M	probably benign	Het
Rnf157	A	G	11: 116,250,098 (GRCm39)	V200A	probably damaging	Het
Scfd2	T	C	5: 74,372,917 (GRCm39)	T653A	probably benign	Het
Sdccag8	T	C	1: 176,775,858 (GRCm39)	Y590H	probably damaging	Het
Sema4d	T	A	13: 51,877,654 (GRCm39)	K59N	probably benign	Het
Serpinb7	C	A	1: 107,379,563 (GRCm39)	H323Q	probably damaging	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,969,020 (GRCm39)	S466P	possibly damaging	Het
Sgsm2	T	C	11: 74,741,958 (GRCm39)	M1011V	probably damaging	Het
Ssc4d	G	A	5: 135,993,538 (GRCm39)	P106L	probably benign	Het
Taf7	T	C	18: 37,775,784 (GRCm39)	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,152,553 (GRCm39)	K71R	possibly damaging	Het
Tff3	C	T	17: 31,348,508 (GRCm39)	V15I	probably benign	Het
Tgfb3	C	A	12: 86,124,589 (GRCm39)	V40L	possibly damaging	Het
Timm10	T	A	2: 84,657,992 (GRCm39)	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,663,753 (GRCm39)	N74I	probably damaging	Het
Ttll1	G	A	15: 83,381,546 (GRCm39)	T241I	probably damaging	Het
Uba6	T	A	5: 86,260,603 (GRCm39)	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,955,480 (GRCm39)	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,497,728 (GRCm39)	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,315,014 (GRCm39)	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,775,303 (GRCm39)	F184L	possibly damaging	Het
Vtn	A	T	11: 78,393,032 (GRCm39)	I466F	probably damaging	Het
Zfp352	A	C	4: 90,112,772 (GRCm39)	D304A	probably damaging	Het

Other mutations in Dtx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02131:Dtx3	APN	10	127,029,148 (GRCm39)	missense	probably damaging	0.99
IGL02314:Dtx3	APN	10	127,026,828 (GRCm39)	unclassified	probably benign
R0257:Dtx3	UTSW	10	127,028,761 (GRCm39)	missense	probably benign
R1108:Dtx3	UTSW	10	127,027,158 (GRCm39)	missense	possibly damaging	0.84
R1422:Dtx3	UTSW	10	127,027,158 (GRCm39)	missense	possibly damaging	0.84
R3693:Dtx3	UTSW	10	127,027,293 (GRCm39)	missense	probably benign	0.33
R4016:Dtx3	UTSW	10	127,027,040 (GRCm39)	missense	probably benign	0.00
R4231:Dtx3	UTSW	10	127,029,058 (GRCm39)	missense	possibly damaging	0.92
R4232:Dtx3	UTSW	10	127,029,058 (GRCm39)	missense	possibly damaging	0.92
R4236:Dtx3	UTSW	10	127,029,058 (GRCm39)	missense	possibly damaging	0.92
R4838:Dtx3	UTSW	10	127,027,176 (GRCm39)	splice site	probably null
R5338:Dtx3	UTSW	10	127,028,919 (GRCm39)	missense	probably benign	0.23
R5510:Dtx3	UTSW	10	127,028,807 (GRCm39)	missense	probably benign	0.08
R6989:Dtx3	UTSW	10	127,028,746 (GRCm39)	missense	probably benign	0.01
R7225:Dtx3	UTSW	10	127,027,358 (GRCm39)	missense	probably damaging	0.99
R8137:Dtx3	UTSW	10	127,029,041 (GRCm39)	missense	possibly damaging	0.85
R8293:Dtx3	UTSW	10	127,026,882 (GRCm39)	missense	probably damaging	1.00
R8411:Dtx3	UTSW	10	127,028,693 (GRCm39)	missense	possibly damaging	0.55
R9080:Dtx3	UTSW	10	127,027,137 (GRCm39)	missense	possibly damaging	0.68
R9663:Dtx3	UTSW	10	127,028,518 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATAAGTCCTAAGGCATGCTGGG -3'
(R):5'- GAAACCACCTGCCCCATTTG -3'

Sequencing Primer
(F):5'- AGACAGCAAGAGTCTAACATGTC -3'
(R):5'- CCATTTGCCTGGGGGAGATACAG -3'

Posted On

2015-09-24