Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Dtx2'

227938

Institutional Source

Beutler Lab

Gene Symbol

Dtx2

Ensembl Gene

ENSMUSG00000004947

Gene Name

deltex 2, E3 ubiquitin ligase

Synonyms

2610524D08Rik

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136023654-136061726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136040894 bp (GRCm39)

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]

AlphaFold

Q8R3P2

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
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
R2062:Dtx2	UTSW	5	136,059,431 (GRCm39)	missense	probably damaging	1.00
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
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'- ACATCATGGTCGTGCTGTG -3'
(R):5'- AAGTCACTGGGTAAACTGGCC -3'

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

Posted On

2014-09-17