Mutagenetix > Incidental Mutations

Incidental Mutation 'R2130:Dtx2'

227938

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

MMRRC Submission

040133-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (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 136012040 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 100 (F100I)

Ref Sequence

ENSEMBL: ENSMUSP00000142472 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000005072
AA Change: F100I

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: F100I

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

possibly damaging
Transcript: ENSMUST00000111142
AA Change: F100I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: F100I

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

possibly damaging
Transcript: ENSMUST00000111144
AA Change: F100I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: F100I

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

possibly damaging
Transcript: ENSMUST00000111145
AA Change: F100I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: F100I

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

possibly damaging
Transcript: ENSMUST00000125827
AA Change: F100I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: F100I

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 damaging
Transcript: ENSMUST00000199239
AA Change: F100I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142472
Gene: ENSMUSG00000004947
AA Change: F100I

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

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,581,727	T212A	possibly damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apaf1	A	T	10: 91,060,165	Y348*	probably null	Het
Apobr	A	G	7: 126,587,206	T630A	probably benign	Het
Arhgap23	A	G	11: 97,451,561	D223G	possibly damaging	Het
Asic1	A	T	15: 99,671,875	T26S	possibly damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,654,994	G438D	probably damaging	Het
Bbc3	T	C	7: 16,312,343	V68A	possibly damaging	Het
Birc6	T	C	17: 74,659,154		probably benign	Het
Btnl9	A	G	11: 49,180,696	F100S	probably damaging	Het
Ccpg1	A	G	9: 73,013,158	N685S	probably damaging	Het
Ces3b	T	A	8: 105,092,975		probably null	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clhc1	A	G	11: 29,557,663	I126V	probably benign	Het
Crocc	T	C	4: 141,029,102	I1071V	probably benign	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,544,059	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,674,568	V77A	probably benign	Het
Dram2	T	A	3: 106,570,760	M136K	possibly damaging	Het
Dync2h1	A	T	9: 7,011,253	W3654R	probably damaging	Het
Fam129b	A	G	2: 32,923,647	K624R	probably benign	Het
Fam208a	T	A	14: 27,446,388	Y296N	probably damaging	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fgf17	T	C	14: 70,638,487	R102G	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm6578	C	A	6: 12,100,187		noncoding transcript	Het
Gm8298	T	C	3: 59,865,348	V91A	probably damaging	Het
Gm8374	T	C	14: 7,364,194	T49A	probably damaging	Het
Gm9797	G	T	10: 11,609,369		noncoding transcript	Het
Golga3	T	C	5: 110,202,939		probably null	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Isoc2b	A	T	7: 4,851,439	I31N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Krtap16-1	A	T	11: 99,985,776	C267*	probably null	Het
Lamc2	T	A	1: 153,127,124	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,192,049	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,185,294	F214S	probably damaging	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myo15b	G	A	11: 115,871,643	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 126,390,462	V250A	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr683	T	A	7: 105,143,550	I254F	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psph	T	A	5: 129,787,539		probably null	Het
Ptpro	A	G	6: 137,411,116		probably null	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,448,417		probably benign	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Rnf17	T	C	14: 56,493,354	V1205A	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Sgo2b	T	C	8: 63,927,147	R884G	probably benign	Het
Slc10a5	G	T	3: 10,335,218	D127E	probably benign	Het
Slc25a35	T	G	11: 68,968,965	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,325,041	L194P	possibly damaging	Het
Snw1	T	G	12: 87,452,703		probably benign	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764		probably benign	Het
Ssxa1	T	A	X: 21,119,342		probably benign	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,596,041	I279T	probably damaging	Het
Tmem98	A	G	11: 80,817,522	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	T	C	2: 76,742,517	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,461,656	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,400	I1683N	probably benign	Het
Vps13d	C	T	4: 145,156,101	R968H	probably benign	Het
Vwf	C	T	6: 125,657,057	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp459	A	T	13: 67,408,276	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,952,636	Y15*	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCATGGTCGTGCTGTG -3'
(R):5'- AAGTCACTGGGTAAACTGGCC -3'

Sequencing Primer
(F):5'- TGGTGTCACATGGTCACACAC -3'
(R):5'- TGGGTAAACTGGCCCCACTTG -3'

Posted On

2014-09-17