Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Dtx2'

471939

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135994800-136032872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136023699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 347 (V347D)

Ref Sequence

ENSEMBL: ENSMUSP00000115122 (fasta)

Gene Model

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

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
AA Change: V347D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: V347D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567 (GRCm38)	Q581*	probably null	Het
Agl	A	G	3: 116,793,774 (GRCm38)	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260 (GRCm38)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227 (GRCm38)		probably benign	Het
Bbs2	T	C	8: 94,068,367 (GRCm38)	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818 (GRCm38)	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736 (GRCm38)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940 (GRCm38)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434 (GRCm38)	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572 (GRCm38)	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183 (GRCm38)	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217 (GRCm38)	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723 (GRCm38)	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029 (GRCm38)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760 (GRCm38)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954 (GRCm38)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962 (GRCm38)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223 (GRCm38)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467 (GRCm38)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089 (GRCm38)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128 (GRCm38)	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880 (GRCm38)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584 (GRCm38)	T4456A	possibly damaging	Het
Gigyf2	C	T	1: 87,407,167 (GRCm38)	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162 (GRCm38)	S1378*	probably null	Het
Gnao1	G	A	8: 93,966,999 (GRCm38)	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129 (GRCm38)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469 (GRCm38)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757 (GRCm38)	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447 (GRCm38)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922 (GRCm38)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524 (GRCm38)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,542,120 (GRCm38)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 180,031,425 (GRCm38)	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288 (GRCm38)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762 (GRCm38)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165 (GRCm38)	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177 (GRCm38)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587 (GRCm38)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833 (GRCm38)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636 (GRCm38)	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079 (GRCm38)		probably null	Het
Ngrn	T	C	7: 80,261,933 (GRCm38)		probably null	Het
Nlrp1a	T	A	11: 71,123,020 (GRCm38)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,534,198 (GRCm38)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,954,531 (GRCm38)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,775,934 (GRCm38)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm38)	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254 (GRCm38)	G778E	probably benign	Het
Pum3	T	C	19: 27,420,051 (GRCm38)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,882,886 (GRCm38)	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576 (GRCm38)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898 (GRCm38)	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696 (GRCm38)		probably benign	Het
Serac1	T	A	17: 6,065,049 (GRCm38)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073 (GRCm38)	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236 (GRCm38)	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951 (GRCm38)		probably null	Het
Smarca4	C	A	9: 21,647,430 (GRCm38)	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481 (GRCm38)	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895 (GRCm38)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240 (GRCm38)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255 (GRCm38)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703 (GRCm38)	H131N	probably damaging	Het
Ttn	C	A	2: 76,829,888 (GRCm38)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,713,511 (GRCm38)	E31298*	probably null	Het
Usp7	A	G	16: 8,712,102 (GRCm38)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180 (GRCm38)	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011 (GRCm38)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845 (GRCm38)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933 (GRCm38)	K21R	possibly damaging	Het

Other mutations in Dtx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Dtx2	APN	5	136,029,203 (GRCm38)	missense	possibly damaging	0.95
IGL01536:Dtx2	APN	5	136,010,086 (GRCm38)	utr 5 prime	probably benign
IGL01584:Dtx2	APN	5	136,026,566 (GRCm38)	missense	possibly damaging	0.49
IGL01782:Dtx2	APN	5	136,010,127 (GRCm38)	nonsense	probably null
IGL03091:Dtx2	APN	5	136,012,374 (GRCm38)	missense	probably damaging	1.00
R0499:Dtx2	UTSW	5	136,029,103 (GRCm38)	missense	probably damaging	1.00
R0580:Dtx2	UTSW	5	136,032,326 (GRCm38)	missense	probably damaging	1.00
R1988:Dtx2	UTSW	5	136,032,293 (GRCm38)	nonsense	probably null
R2062:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2063:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2064:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2065:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2068:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2108:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2110:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2111:Dtx2	UTSW	5	136,030,577 (GRCm38)	missense	probably damaging	1.00
R2130:Dtx2	UTSW	5	136,012,040 (GRCm38)	missense	probably damaging	0.96
R2146:Dtx2	UTSW	5	136,030,610 (GRCm38)	missense	probably benign	0.21
R3108:Dtx2	UTSW	5	136,021,816 (GRCm38)	missense	probably benign	0.01
R3421:Dtx2	UTSW	5	136,012,478 (GRCm38)	missense	probably damaging	1.00
R4467:Dtx2	UTSW	5	136,012,076 (GRCm38)	missense	probably damaging	1.00
R4741:Dtx2	UTSW	5	136,026,517 (GRCm38)	missense	probably benign	0.00
R5083:Dtx2	UTSW	5	136,012,190 (GRCm38)	missense	probably damaging	1.00
R5318:Dtx2	UTSW	5	136,012,100 (GRCm38)	missense	possibly damaging	0.92
R5705:Dtx2	UTSW	5	136,010,295 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTGTGCACATACCAAAACAG -3'
(R):5'- GATTGAACTAAACCTCCTCCTGC -3'

Sequencing Primer
(F):5'- GTGTGCACATACCAAAACAGAGACAC -3'
(R):5'- TGCACCCCAAGATAAACTTTACCTAG -3'

Posted On

2017-03-31