Mutagenetix > Incidental Mutation

Incidental Mutation 'R2062:Dtx2'

228750

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

2610524D08Rik

MMRRC Submission

040067-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136023654-136061726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136059431 bp (GRCm39)

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: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
A2ml1	A	T	6: 128,529,271 (GRCm39)	M957K	probably benign	Het
Adam7	C	A	14: 68,742,610 (GRCm39)	V668F	probably benign	Het
Adcy7	T	G	8: 89,038,902 (GRCm39)	L306R	probably damaging	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano7	T	C	1: 93,318,035 (GRCm39)	V249A	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Asah2	A	T	19: 32,002,274 (GRCm39)	V290E	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atxn2l	T	A	7: 126,095,038 (GRCm39)	K421N	probably damaging	Het
Cars2	T	C	8: 11,597,747 (GRCm39)	I110V	probably damaging	Het
Ccdc74a	A	G	16: 17,467,890 (GRCm39)	N249S	probably benign	Het
Cenpe	T	C	3: 134,928,082 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cyp2d37-ps	C	T	15: 82,574,289 (GRCm39)		noncoding transcript	Het
Cyp3a25	A	G	5: 145,923,779 (GRCm39)		probably benign	Het
Dis3l	G	T	9: 64,246,855 (GRCm39)	Q67K	probably benign	Het
Dnah1	A	G	14: 30,993,086 (GRCm39)	V2936A	probably damaging	Het
Dnah5	C	T	15: 28,366,416 (GRCm39)	R2710C	probably damaging	Het
Dvl3	G	A	16: 20,345,101 (GRCm39)	S361N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif2ak3	T	C	6: 70,881,181 (GRCm39)	V1085A	probably benign	Het
Eif3b	T	C	5: 140,412,208 (GRCm39)	Y226H	probably damaging	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ercc1	A	G	7: 19,088,295 (GRCm39)	*37W	probably null	Het
Evi2a	G	A	11: 79,418,593 (GRCm39)	Q6*	probably null	Het
Faah	C	T	4: 115,855,770 (GRCm39)	V552M	probably damaging	Het
Fat1	T	A	8: 45,477,369 (GRCm39)	N2138K	probably damaging	Het
Fat1	T	A	8: 45,479,741 (GRCm39)	V2929E	probably damaging	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6327	A	T	16: 12,578,979 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hspg2	A	T	4: 137,286,678 (GRCm39)	T3666S	possibly damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Iqgap1	G	A	7: 80,373,727 (GRCm39)	Q1421*	probably null	Het
Itga3	T	A	11: 94,944,902 (GRCm39)	Q802L	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lztr1	T	C	16: 17,327,534 (GRCm39)	V79A	probably damaging	Het
Mast4	C	T	13: 102,895,601 (GRCm39)	E736K	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Myof	A	G	19: 37,904,194 (GRCm39)	V2A	possibly damaging	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav3	G	A	10: 109,555,882 (GRCm39)	T1683M	probably damaging	Het
Nbea	A	G	3: 55,993,578 (GRCm39)		probably benign	Het
Nebl	A	T	2: 17,401,932 (GRCm39)	M427K	probably benign	Het
Ngdn	T	C	14: 55,259,564 (GRCm39)	V205A	possibly damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or10j3b	T	C	1: 173,043,277 (GRCm39)	F20L	probably benign	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2w3	G	T	11: 58,556,808 (GRCm39)	C141F	probably damaging	Het
Or5m9	A	G	2: 85,877,299 (GRCm39)	T158A	probably damaging	Het
Or6c205	T	A	10: 129,087,001 (GRCm39)	Y199*	probably null	Het
Park7	T	C	4: 150,989,732 (GRCm39)	N76S	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pkhd1	A	G	1: 20,271,559 (GRCm39)	I2998T	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppard	A	G	17: 28,518,663 (GRCm39)	H388R	probably damaging	Het
Psma1	A	G	7: 113,869,001 (GRCm39)	S142P	possibly damaging	Het
Pth2r	T	C	1: 65,382,721 (GRCm39)	I158T	probably damaging	Het
Rbl2	C	A	8: 91,833,367 (GRCm39)	P714Q	probably damaging	Het
Rexo2	A	T	9: 48,385,813 (GRCm39)	S104T	possibly damaging	Het
Sema5a	T	C	15: 32,609,363 (GRCm39)		probably benign	Het
Spmip10	C	T	18: 56,721,535 (GRCm39)	Q25*	probably null	Het
Sun2	A	G	15: 79,622,852 (GRCm39)	L109P	probably damaging	Het
Tdg	A	G	10: 82,477,368 (GRCm39)	T116A	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tmcc1	C	T	6: 116,020,019 (GRCm39)	V118M	probably benign	Het
Tnfsf11	T	A	14: 78,516,362 (GRCm39)	N202I	probably damaging	Het
Togaram2	T	C	17: 72,023,360 (GRCm39)	S759P	probably benign	Het
Ttc7b	G	A	12: 100,291,948 (GRCm39)	A208V	probably damaging	Het
Tti2	T	C	8: 31,644,338 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,905,118 (GRCm39)		probably null	Het
Zfyve26	T	C	12: 79,330,806 (GRCm39)		probably null	Het
Zfyve28	T	C	5: 34,391,681 (GRCm39)	M157V	probably null	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Dtx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Dtx2	APN	5	136,058,057 (GRCm39)	missense	possibly damaging	0.95
IGL01536:Dtx2	APN	5	136,038,940 (GRCm39)	utr 5 prime	probably benign
IGL01584:Dtx2	APN	5	136,055,420 (GRCm39)	missense	possibly damaging	0.49
IGL01782:Dtx2	APN	5	136,038,981 (GRCm39)	nonsense	probably null
IGL03091:Dtx2	APN	5	136,041,228 (GRCm39)	missense	probably damaging	1.00
R0499:Dtx2	UTSW	5	136,057,957 (GRCm39)	missense	probably damaging	1.00
R0580:Dtx2	UTSW	5	136,061,180 (GRCm39)	missense	probably damaging	1.00
R1988:Dtx2	UTSW	5	136,061,147 (GRCm39)	nonsense	probably null
R2063:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2064:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2065:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2068:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2108:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2110:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2111:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
R2130:Dtx2	UTSW	5	136,040,894 (GRCm39)	missense	probably damaging	0.96
R2146:Dtx2	UTSW	5	136,059,464 (GRCm39)	missense	probably benign	0.21
R3108:Dtx2	UTSW	5	136,050,670 (GRCm39)	missense	probably benign	0.01
R3421:Dtx2	UTSW	5	136,041,332 (GRCm39)	missense	probably damaging	1.00
R4467:Dtx2	UTSW	5	136,040,930 (GRCm39)	missense	probably damaging	1.00
R4741:Dtx2	UTSW	5	136,055,371 (GRCm39)	missense	probably benign	0.00
R5083:Dtx2	UTSW	5	136,041,044 (GRCm39)	missense	probably damaging	1.00
R5318:Dtx2	UTSW	5	136,040,954 (GRCm39)	missense	possibly damaging	0.92
R5705:Dtx2	UTSW	5	136,039,149 (GRCm39)	missense	probably damaging	1.00
R5964:Dtx2	UTSW	5	136,052,553 (GRCm39)	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2014-09-17