Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Dtx2'

47009

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0499 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

135994800-136032872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136029103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 421 (G421R)

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: G420R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: G420R

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: G421R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: G421R

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: G375R

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: G375R

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: G375R

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: G375R

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

0.6921

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415 (GRCm38)	V388A	probably damaging	Het
Acp3	T	C	9: 104,320,002 (GRCm38)	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079 (GRCm38)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335 (GRCm38)	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264 (GRCm38)		probably benign	Het
Ankmy1	G	T	1: 92,886,226 (GRCm38)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454 (GRCm38)	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397 (GRCm38)		probably null	Het
Arl13b	G	A	16: 62,801,733 (GRCm38)	T399I	probably benign	Het
Atad2	T	G	15: 58,120,949 (GRCm38)	M328L	probably benign	Het
Atad2	A	T	15: 58,103,240 (GRCm38)	D652E	possibly damaging	Het
Ccnb1	T	C	13: 100,780,134 (GRCm38)		probably null	Het
Ccr2	A	T	9: 124,106,126 (GRCm38)	T148S	possibly damaging	Het
Ccr2	G	C	9: 124,105,939 (GRCm38)	K85N	possibly damaging	Het
Cdc20b	T	C	13: 113,055,950 (GRCm38)	V59A	probably benign	Het
Cdin1	C	T	2: 115,642,691 (GRCm38)	R101W	probably damaging	Het
Cdkl3	T	C	11: 52,032,416 (GRCm38)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878 (GRCm38)	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689 (GRCm38)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,640,265 (GRCm38)	D155G	probably damaging	Het
Cntnap3	C	T	13: 64,858,678 (GRCm38)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm38)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,300,741 (GRCm38)		probably benign	Het
Csmd3	T	C	15: 47,847,131 (GRCm38)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605 (GRCm38)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217 (GRCm38)	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509 (GRCm38)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,770,437 (GRCm38)	T1251S	probably benign	Het
Epb41l3	T	A	17: 69,247,659 (GRCm38)	D251E	probably benign	Het
Erg	A	C	16: 95,360,983 (GRCm38)	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566 (GRCm38)	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909 (GRCm38)	I323L	probably benign	Het
Far1	G	T	7: 113,554,296 (GRCm38)		probably benign	Het
Fmod	A	G	1: 134,041,196 (GRCm38)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285 (GRCm38)	S169T	probably benign	Het
Gm4076	G	T	13: 85,127,226 (GRCm38)		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525 (GRCm38)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203 (GRCm38)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672 (GRCm38)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm38)	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369 (GRCm38)	C3107*	probably null	Het
Herc4	T	C	10: 63,264,032 (GRCm38)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,921 (GRCm38)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984 (GRCm38)		probably null	Het
Il18rap	A	T	1: 40,525,058 (GRCm38)	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149 (GRCm38)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm38)	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087 (GRCm38)	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695 (GRCm38)	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369 (GRCm38)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193 (GRCm38)		probably null	Het
Lyst	T	A	13: 13,616,713 (GRCm38)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154 (GRCm38)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518 (GRCm38)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956 (GRCm38)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531 (GRCm38)	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688 (GRCm38)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984 (GRCm38)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468 (GRCm38)	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883 (GRCm38)	M959K	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505 (GRCm38)	M258L	probably benign	Het
Or2ak6	G	A	11: 58,702,243 (GRCm38)	V181I	probably benign	Het
Or4f58	A	T	2: 112,021,432 (GRCm38)	C141S	probably damaging	Het
Otog	G	T	7: 46,273,832 (GRCm38)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235 (GRCm38)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651 (GRCm38)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,748,458 (GRCm38)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,937,971 (GRCm38)	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594 (GRCm38)	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161 (GRCm38)	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143 (GRCm38)	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415 (GRCm38)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,074,881 (GRCm38)	G24*	probably null	Het
Sde2	T	A	1: 180,862,427 (GRCm38)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757 (GRCm38)	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470 (GRCm38)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559 (GRCm38)	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228 (GRCm38)		probably benign	Het
Sik3	T	C	9: 46,208,740 (GRCm38)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017 (GRCm38)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088 (GRCm38)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,405,786 (GRCm38)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,955,470 (GRCm38)	N694S	possibly damaging	Het
Styxl2	C	A	1: 166,099,101 (GRCm38)	V981L	probably benign	Het
Tecta	T	C	9: 42,352,063 (GRCm38)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673 (GRCm38)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873 (GRCm38)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm38)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501 (GRCm38)	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571 (GRCm38)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509 (GRCm38)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114 (GRCm38)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206 (GRCm38)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080 (GRCm38)		probably null	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
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
R5964:Dtx2	UTSW	5	136,023,699 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACTTGATGGCCTAGCATCCCC -3'
(R):5'- ATGGCTTAGTACCTGCCCTTCAGC -3'

Sequencing Primer
(F):5'- CTTCTTCTGACAGAGGCAGGAC -3'
(R):5'- atgctcctactgcctcaac -3'

Posted On

2013-06-12