Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Dtx2'

232542

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

MMRRC Submission

040115-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2111 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

135994800-136032872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136030577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 493 (S493F)

Ref Sequence

ENSEMBL: ENSMUSP00000106772 (fasta)

Gene Model

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

AlphaFold

Q8R3P2

PDB Structure

Solution Structure of the Ring-H2 Finger Domain of Mouse Deltex Protein 2 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005072
AA Change: S492F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: S492F

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 damaging
Transcript: ENSMUST00000111142
AA Change: S493F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: S493F

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 damaging
Transcript: ENSMUST00000111144
AA Change: S447F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: S447F

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 damaging
Transcript: ENSMUST00000111145
AA Change: S447F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: S447F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,407,589		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Adam9	C	T	8: 24,982,126		probably benign	Het
Adprhl1	A	G	8: 13,248,694	Y79H	probably damaging	Het
Akp3	A	T	1: 87,126,885		probably null	Het
Alpk2	T	C	18: 65,349,774	S388G	probably benign	Het
Amph	G	A	13: 19,116,266		probably benign	Het
Arr3	T	A	X: 100,614,641	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,459,546	F808S	probably damaging	Het
Baz1a	T	A	12: 54,911,385	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,612,421	H297Q	probably damaging	Het
Calr3	T	A	8: 72,427,268	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,847,492	R46C	probably damaging	Het
Cdh23	G	T	10: 60,305,583	F3127L	probably damaging	Het
Cps1	T	A	1: 67,176,980	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,773,634	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,519,370	V379A	probably benign	Het
Dst	T	C	1: 34,169,178	S737P	probably damaging	Het
Eci2	A	G	13: 34,990,716		probably null	Het
Ercc6l2	A	G	13: 63,834,749	T126A	probably damaging	Het
Fgf6	T	C	6: 127,015,760	S59P	probably damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,684,317	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,923,778	D24E	probably benign	Het
Gigyf2	A	G	1: 87,440,730	H1044R	probably damaging	Het
Gk2	T	C	5: 97,456,305	I225V	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm4788	T	A	1: 139,774,679		probably benign	Het
Gnl3l	A	G	X: 150,997,294	S217P	probably damaging	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Ift172	G	A	5: 31,286,079	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,161,629	S72*	probably null	Het
Ildr1	A	G	16: 36,721,979	E247G	probably damaging	Het
Insr	A	G	8: 3,169,748	S925P	probably benign	Het
Itpr1	T	G	6: 108,378,309		probably benign	Het
Khdrbs3	C	T	15: 69,024,824	T111I	probably benign	Het
Mageb3	A	G	2: 121,954,825		probably null	Het
Mcf2l	A	T	8: 13,001,867	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409	E1456G	probably damaging	Het
Mta1	C	T	12: 113,131,628	T467I	probably damaging	Het
Mtr	A	T	13: 12,244,601	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,022,571	P819T	probably damaging	Het
Myh1	G	A	11: 67,214,620	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	A	8: 61,124,326		probably null	Het
Nes	A	G	3: 87,977,311	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,199,353	I30M	probably benign	Het
Nup153	A	G	13: 46,683,928	S1273P	probably benign	Het
Nup155	A	G	15: 8,121,467	I334V	probably benign	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1469	G	A	19: 13,410,943	A125T	probably damaging	Het
Olfr213	T	C	6: 116,540,650	Y66H	possibly damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr418	A	T	1: 173,270,312	M46L	probably benign	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Pcnt	T	C	10: 76,420,526	K627E	probably damaging	Het
Pja2	T	A	17: 64,290,036	D553V	probably damaging	Het
Prune2	T	C	19: 17,208,238	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,500,758		probably null	Het
Rdh13	A	G	7: 4,445,483	V10A	probably benign	Het
Rimbp2	T	C	5: 128,773,501	Y906C	probably damaging	Het
Ripor1	T	C	8: 105,614,712	F59S	probably damaging	Het
Rnf185	T	C	11: 3,432,393		probably benign	Het
Runx3	T	C	4: 135,155,316	V107A	probably damaging	Het
Scn3b	T	C	9: 40,282,445	V156A	probably benign	Het
Serpina3a	G	A	12: 104,116,222	A85T	probably damaging	Het
Slc12a7	C	T	13: 73,785,155	R111*	probably null	Het
Slc5a5	A	T	8: 70,889,751		probably null	Het
Snx13	A	T	12: 35,138,085	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,573	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,275,881	K1382N	probably benign	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tagln3	A	G	16: 45,711,594	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,240,914	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,932,644	E211G	probably benign	Het
Tmod3	A	G	9: 75,509,363	V229A	probably damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Usp40	A	G	1: 87,950,214	I1117T	probably benign	Het
Vcan	T	A	13: 89,693,303	D414V	probably damaging	Het
Xrn1	C	A	9: 96,039,832	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,082,968		noncoding transcript	Het
Zfp74	G	A	7: 29,935,018	Q422*	probably null	Het
Zmym3	A	T	X: 101,407,387	V1208D	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTCCACTTGCCTTGTG -3'
(R):5'- TCTCGTTCACTCAGAGAGGTG -3'

Sequencing Primer
(F):5'- ACTTGCCTTGTGGAGAGCC -3'
(R):5'- GGTGAAGGAAAGACTCCCATC -3'

Posted On

2014-09-18