Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Dtx3'

320918

Institutional Source

Beutler Lab

Gene Symbol

Dtx3

Ensembl Gene

ENSMUSG00000040415

Gene Name

deltex 3, E3 ubiquitin ligase

Synonyms

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R4232 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

127190378-127195728 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127193189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 60 (I60T)

Ref Sequence

ENSEMBL: ENSMUSP00000116510 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000038217
AA Change: I57T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
AA Change: I57T

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

possibly damaging
Transcript: ENSMUST00000116229
AA Change: I57T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: I57T

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

possibly damaging
Transcript: ENSMUST00000130855
AA Change: I60T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
AA Change: I60T

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

possibly damaging
Transcript: ENSMUST00000144322
AA Change: I60T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415
AA Change: I60T

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: ENSMUST00000218478

Predicted Effect

probably benign
Transcript: ENSMUST00000218587

Predicted Effect

probably benign
Transcript: ENSMUST00000218654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219079

Predicted Effect

probably benign
Transcript: ENSMUST00000219245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219649

Predicted Effect

probably benign
Transcript: ENSMUST00000222006

Meta Mutation Damage Score

0.0897

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Aven	A	G	2: 112,627,768	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813		probably null	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252	S143P	possibly damaging	Het
Dvl3	A	G	16: 20,524,233		probably benign	Het
Fam71b	C	A	11: 46,407,405	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677		probably null	Het
Nfkb1	A	G	3: 135,603,770	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370		probably null	Het
Ttc21a	A	T	9: 119,942,618	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654	W1543C	possibly damaging	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
R0257:Dtx3	UTSW	10	127192892	missense	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
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'- AAATGGGGCAGGTGGTTTCC -3'
(R):5'- TTATCTGTCAAATGGGGACTCC -3'

Sequencing Primer
(F):5'- TCCTCTCTGAGACGAGGAGG -3'
(R):5'- GAGTCCCTTTCACCCTGGG -3'

Posted On

2015-06-12