Mutagenetix > Incidental Mutations

Incidental Mutation 'R4741:Dtx2'

358071

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

MMRRC Submission

042026-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135994800-136032872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136026517 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 353 (R353C)

Ref Sequence

ENSEMBL: ENSMUSP00000005072 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005072
AA Change: R353C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: R353C

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
AA Change: R353C

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

SMART Domains

Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: R353C

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

noncoding transcript
Transcript: ENSMUST00000142041

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,375	T1079A	probably damaging	Het
Angptl2	T	C	2: 33,246,188	Y462H	probably benign	Het
Arhgef12	A	G	9: 42,972,153	I1360T	possibly damaging	Het
Armc10	T	G	5: 21,651,836	L111R	probably damaging	Het
Atm	T	C	9: 53,453,607	K2628E	probably benign	Het
Best3	A	T	10: 117,023,996	N387I	probably benign	Het
Brpf3	T	C	17: 28,817,784	F721S	possibly damaging	Het
Cacna1c	A	G	6: 118,613,310	S1411P	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Clip2	T	A	5: 134,516,269	T344S	probably benign	Het
Csmd1	A	C	8: 15,910,447	W3323G	probably damaging	Het
Doc2a	A	T	7: 126,851,445	T298S	possibly damaging	Het
Dpp9	T	C	17: 56,205,286	N234S	probably benign	Het
Epm2aip1	A	G	9: 111,272,613	H218R	probably benign	Het
F2rl1	G	A	13: 95,514,143	T77M	probably damaging	Het
Fsd2	A	G	7: 81,551,895		probably null	Het
Grin2a	T	C	16: 9,663,512	Y475C	probably damaging	Het
H2-Ob	T	A	17: 34,242,571	S95T	possibly damaging	Het
Hddc3	A	G	7: 80,345,716	T160A	probably benign	Het
Hp	A	T	8: 109,575,472	C281*	probably null	Het
Ighg1	T	C	12: 113,326,558		probably benign	Het
Ints7	A	G	1: 191,619,635	I819V	probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Jmjd1c	A	G	10: 67,224,939	I737V	possibly damaging	Het
Krt74	C	T	15: 101,761,441		noncoding transcript	Het
Lnpep	T	C	17: 17,571,658	Y407C	probably damaging	Het
Lrp4	T	G	2: 91,511,567	C1842G	probably damaging	Het
Mug2	T	A	6: 122,079,613	N1172K	probably benign	Het
Npy6r	A	T	18: 44,275,724	T71S	probably damaging	Het
Nsd3	A	T	8: 25,673,366	I591F	probably damaging	Het
Oog2	A	C	4: 144,195,145	E208D	possibly damaging	Het
Otogl	A	G	10: 107,779,260	I1928T	probably benign	Het
Papss1	T	C	3: 131,619,099	L418P	probably damaging	Het
Pcdhb13	T	A	18: 37,443,518	D316E	probably benign	Het
Pcdhgb2	T	A	18: 37,691,684		probably null	Het
Ptcd3	T	A	6: 71,902,949	L108F	probably damaging	Het
Ralgps1	T	C	2: 33,336,587	S31G	probably benign	Het
Rnf225	A	T	7: 12,927,930	H12L	probably benign	Het
Ryr3	T	A	2: 112,803,268	M2047L	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb3b	G	T	1: 107,154,470	Q355K	probably benign	Het
Slc8a2	T	A	7: 16,134,308	F155Y	probably damaging	Het
Taf1c	A	G	8: 119,603,395		probably benign	Het
Tln2	A	G	9: 67,386,555		probably null	Het
Tmpo	A	G	10: 91,162,644	V427A	probably benign	Het
Vmn1r17	A	T	6: 57,361,352	Y9*	probably null	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfand5	C	T	19: 21,276,481	T16I	probably damaging	Het
Zfp352	A	T	4: 90,224,940	K439M	possibly damaging	Het
Zfp786	G	A	6: 47,820,691	H438Y	probably damaging	Het
Zfp808	T	A	13: 62,171,949	C331S	probably damaging	Het

Other mutations in Dtx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Dtx2	APN	5	136029203	missense	possibly damaging	0.95
IGL01536:Dtx2	APN	5	136010086	utr 5 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTCAATGGCTGTGCACAG -3'
(R):5'- AAAATGCCAGTAGCCACCTG -3'

Sequencing Primer
(F):5'- AATGGCTGTGCACAGTGTCAC -3'
(R):5'- AGTAGCCACCTGTGCTGG -3'

Posted On

2015-11-11