Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Dtx3l'

563313

Institutional Source

Beutler Lab

Gene Symbol

Dtx3l

Ensembl Gene

ENSMUSG00000049502

Gene Name

deltex 3-like, E3 ubiquitin ligase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35926511-35939151 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35933401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 278 (N278K)

Ref Sequence

ENSEMBL: ENSMUSP00000080601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081933] [ENSMUST00000114885]

AlphaFold

Q3UIR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081933
AA Change: N278K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502
AA Change: N278K

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
RING	569	607	5.82e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114885
AA Change: N278K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: N278K

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
RING	569	607	5.82e-6	SMART

Meta Mutation Damage Score

0.1608

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,128	Y354F	probably damaging	Het
1700001J03Rik	A	T	5: 146,184,867	I74N	probably damaging	Het
4921501E09Rik	A	G	17: 33,067,127	Y234H	probably damaging	Het
Abca6	A	T	11: 110,241,653	V272D	possibly damaging	Het
Acot11	A	T	4: 106,762,493	S163R	probably benign	Het
Adcy5	T	C	16: 35,156,835	L246P	probably damaging	Het
Adgra1	A	T	7: 139,847,657		probably null	Het
Adgra2	A	G	8: 27,122,027	T1335A	probably damaging	Het
Armt1	T	C	10: 4,453,475	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,505	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,363,835	C163Y	unknown	Het
Cables1	T	C	18: 11,840,007	S68P	possibly damaging	Het
Cacna1d	A	G	14: 30,178,706	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Celf1	T	A	2: 91,003,257	C119*	probably null	Het
Cfap57	C	T	4: 118,593,096	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,927,250	M1K	probably null	Het
Chrnd	C	T	1: 87,197,479	T418I	probably damaging	Het
Coch	G	T	12: 51,593,561		probably benign	Het
Cop1	A	G	1: 159,284,548	T345A	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Corin	T	C	5: 72,305,055	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,617,339	T371N	probably benign	Het
Dap	T	A	15: 31,273,308	*103R	probably null	Het
Defb35	T	A	8: 21,940,757	V49E	unknown	Het
Dmtf1	T	A	5: 9,149,016	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,618,020	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,293,972	E264K	probably benign	Het
Fam161a	T	A	11: 23,020,037	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,745,796	S114T	unknown	Het
Focad	T	G	4: 88,309,906	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171	T418S	probably damaging	Het
Gclc	A	G	9: 77,785,371	Y264C	probably benign	Het
Ggn	G	A	7: 29,173,034	C649Y	possibly damaging	Het
Gm10184	G	A	17: 89,910,135	T61I	probably benign	Het
Gys1	A	G	7: 45,439,668		probably null	Het
Hsd3b1	T	C	3: 98,853,210	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,772,606	K191E	probably benign	Het
Ik	A	T	18: 36,748,222	S79C	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Mast4	A	G	13: 102,738,478	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885	V555E	probably damaging	Het
Met	G	A	6: 17,491,317	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,709,474	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011	D86E	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1120	G	A	2: 87,358,082	V213I	probably benign	Het
Olfr1352	A	T	10: 78,984,497	K236*	probably null	Het
Olfr504	T	G	7: 108,565,712	S28R	probably benign	Het
Olfr935	A	G	9: 38,995,141	I98T	probably benign	Het
Patj	A	T	4: 98,591,933	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,203,217	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,144,893	I309F	possibly damaging	Het
Phtf1	A	G	3: 103,998,696	S565G	probably damaging	Het
Plekha2	A	C	8: 25,088,395	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,856,388	M20V	unknown	Het
Pth2r	A	G	1: 65,388,620	D484G	probably benign	Het
Rapgef2	G	A	3: 79,087,903	Q665*	probably null	Het
Scamp1	G	A	13: 94,233,140	T59I	probably benign	Het
Sema4a	T	A	3: 88,450,109	D230V	probably damaging	Het
Snw1	C	T	12: 87,468,645	G45R	possibly damaging	Het
Sox30	T	A	11: 45,984,520		probably null	Het
Sspo	T	A	6: 48,473,952	I2665K	probably benign	Het
Stx5a	T	A	19: 8,755,277	W437R	unknown	Het
Tln1	A	G	4: 43,542,602	V1402A	probably benign	Het
Tpm1	A	G	9: 67,028,101	L244P	probably benign	Het
Try5	T	A	6: 41,313,454	E32V	probably benign	Het
Ttn	T	C	2: 76,721,729	N31188S	probably benign	Het
Tulp1	T	C	17: 28,363,405		probably null	Het
Usp13	T	G	3: 32,865,743		probably null	Het
Vax2	A	G	6: 83,711,316	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,485,613	Y139*	probably null	Het
Wisp2	T	C	2: 163,828,852	F93S	probably benign	Het
Zfp423	T	C	8: 87,904,527	D21G	probably benign	Het

Other mutations in Dtx3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Dtx3l	APN	16	35931502	missense	probably benign	0.10
IGL02255:Dtx3l	APN	16	35933336	missense	probably benign	0.10
R0560:Dtx3l	UTSW	16	35932935	missense	probably damaging	1.00
R1123:Dtx3l	UTSW	16	35933268	missense	probably damaging	1.00
R1127:Dtx3l	UTSW	16	35938757	missense	possibly damaging	0.74
R1466:Dtx3l	UTSW	16	35932728	missense	probably damaging	1.00
R1466:Dtx3l	UTSW	16	35932728	missense	probably damaging	1.00
R1584:Dtx3l	UTSW	16	35932728	missense	probably damaging	1.00
R1690:Dtx3l	UTSW	16	35933268	missense	probably damaging	1.00
R1929:Dtx3l	UTSW	16	35933689	missense	possibly damaging	0.95
R2014:Dtx3l	UTSW	16	35936427	missense	probably benign	0.08
R2015:Dtx3l	UTSW	16	35936427	missense	probably benign	0.08
R2255:Dtx3l	UTSW	16	35936579	missense	probably benign	0.01
R3023:Dtx3l	UTSW	16	35932436	missense	probably benign	0.01
R3176:Dtx3l	UTSW	16	35932173	missense	probably benign	0.29
R5224:Dtx3l	UTSW	16	35938793	missense	possibly damaging	0.93
R5233:Dtx3l	UTSW	16	35933238	missense	possibly damaging	0.49
R5375:Dtx3l	UTSW	16	35933027	missense	probably damaging	1.00
R5884:Dtx3l	UTSW	16	35932233	missense	probably benign
R6821:Dtx3l	UTSW	16	35933060	missense	probably damaging	1.00
R6994:Dtx3l	UTSW	16	35931372	critical splice donor site	probably null
R7270:Dtx3l	UTSW	16	35933657	missense	probably damaging	1.00
R7837:Dtx3l	UTSW	16	35931526	missense	probably damaging	1.00
R7866:Dtx3l	UTSW	16	35938750	missense	probably benign	0.00
R8053:Dtx3l	UTSW	16	35938952	unclassified	probably benign
R8337:Dtx3l	UTSW	16	35933703	missense	probably benign	0.00
R9764:Dtx3l	UTSW	16	35932907	missense	probably damaging	1.00
Z1176:Dtx3l	UTSW	16	35932457	missense	probably damaging	1.00
Z1176:Dtx3l	UTSW	16	35933183	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGGGAAGCAGCGACTCAG -3'
(R):5'- TGAGTGAGCAGCTTTTGGAACG -3'

Sequencing Primer
(F):5'- AGCGACTCAGCTCCTGTCTG -3'
(R):5'- CAGCTTTTGGAACGGGAGC -3'

Posted On

2019-06-26