Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Dtx2'

89980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

135994800-136032872 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 136010086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005072] [ENSMUST00000111142] [ENSMUST00000111144] [ENSMUST00000111145] [ENSMUST00000125827] [ENSMUST00000130345] [ENSMUST00000199239]

AlphaFold

Q8R3P2

Predicted Effect

probably benign
Transcript: ENSMUST00000005072

SMART Domains

Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	2.02e-31	SMART
WWE	107	182	6.98e-26	SMART
low complexity region	281	318	N/A	INTRINSIC
RING	408	468	2.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111142

SMART Domains

Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	2.02e-31	SMART
WWE	107	182	6.98e-26	SMART
low complexity region	281	318	N/A	INTRINSIC
RING	409	469	2.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111144

SMART Domains

Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	2.02e-31	SMART
WWE	107	182	6.98e-26	SMART
low complexity region	281	318	N/A	INTRINSIC
RING	363	423	2.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111145

SMART Domains

Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	2.02e-31	SMART
WWE	107	182	6.98e-26	SMART
low complexity region	281	318	N/A	INTRINSIC
RING	363	423	2.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125827

SMART Domains

Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	2.02e-31	SMART
WWE	107	182	6.98e-26	SMART
low complexity region	281	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130345

Predicted Effect

probably benign
Transcript: ENSMUST00000199239

SMART Domains

Protein: ENSMUSP00000142472
Gene: ENSMUSG00000004947

Domain	Start	End	E-Value	Type
WWE	17	105	8.4e-34	SMART
WWE	107	151	3.9e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5a1	T	C	18: 77,780,312		probably benign	Het
Ccnc	A	G	4: 21,732,505	I81V	probably benign	Het
Cep112	A	G	11: 108,531,411	D560G	probably null	Het
Dis3	A	G	14: 99,079,423	Y826H	probably damaging	Het
Enpp4	T	C	17: 44,099,603	K361E	possibly damaging	Het
Erap1	A	T	13: 74,662,423	K294*	probably null	Het
Erbb4	T	A	1: 68,290,282	Y636F	probably benign	Het
Fads1	C	A	19: 10,194,030	Q342K	probably benign	Het
Fntb	A	T	12: 76,920,130	T447S	probably benign	Het
Hdac4	A	G	1: 91,930,146		probably benign	Het
Kcnh2	A	G	5: 24,326,524	I463T	probably damaging	Het
Kif13a	G	T	13: 46,752,289	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,422,743	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,740,796	S425P	probably benign	Het
Lrp1b	T	C	2: 41,110,883	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,715,584	T173S	probably benign	Het
Muc4	T	C	16: 32,763,966	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,820,851	P676L	probably damaging	Het
Olfr1023	T	C	2: 85,887,600	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,474,993	M426T	probably benign	Het
Pik3cd	A	G	4: 149,652,666	V891A	probably damaging	Het
Polr1b	A	G	2: 129,125,555	N956S	probably benign	Het
Ppil3	T	C	1: 58,444,591	M1V	probably null	Het
Rad1	T	A	15: 10,493,200	S238T	possibly damaging	Het
Shc3	A	C	13: 51,516,559	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,589,629		probably null	Het
Smg5	A	G	3: 88,349,245	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,583,200		probably null	Het
Sstr4	T	C	2: 148,395,880	L137P	probably damaging	Het
Taar8b	C	T	10: 24,091,595	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,260,992	Y860C	probably damaging	Het
Tll1	A	T	8: 64,074,289	S399R	probably damaging	Het
Tns1	T	C	1: 73,919,648		probably benign	Het
Trim10	T	A	17: 36,877,288		probably null	Het
Ttn	C	T	2: 76,732,351		probably null	Het
Usp43	T	C	11: 67,855,938	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,463,281	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,605,155	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,384,848	K575E	probably damaging	Het
Vmn2r50	C	T	7: 10,037,683	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,720,719		probably null	Het

Other mutations in Dtx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Dtx2	APN	5	136029203	missense	possibly damaging	0.95
IGL01584:Dtx2	APN	5	136026566	missense	possibly damaging	0.49
IGL01782:Dtx2	APN	5	136010127	nonsense	probably null
IGL03091:Dtx2	APN	5	136012374	missense	probably damaging	1.00
R0499:Dtx2	UTSW	5	136029103	missense	probably damaging	1.00
R0580:Dtx2	UTSW	5	136032326	missense	probably damaging	1.00
R1988:Dtx2	UTSW	5	136032293	nonsense	probably null
R2062:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2063:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2064:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2065:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2068:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2108:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2110:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2111:Dtx2	UTSW	5	136030577	missense	probably damaging	1.00
R2130:Dtx2	UTSW	5	136012040	missense	probably damaging	0.96
R2146:Dtx2	UTSW	5	136030610	missense	probably benign	0.21
R3108:Dtx2	UTSW	5	136021816	missense	probably benign	0.01
R3421:Dtx2	UTSW	5	136012478	missense	probably damaging	1.00
R4467:Dtx2	UTSW	5	136012076	missense	probably damaging	1.00
R4741:Dtx2	UTSW	5	136026517	missense	probably benign	0.00
R5083:Dtx2	UTSW	5	136012190	missense	probably damaging	1.00
R5318:Dtx2	UTSW	5	136012100	missense	possibly damaging	0.92
R5705:Dtx2	UTSW	5	136010295	missense	probably damaging	1.00
R5964:Dtx2	UTSW	5	136023699	missense	probably benign	0.00

Posted On

2013-12-03