Mutagenetix > Incidental Mutation

Incidental Mutation 'R8337:Dtx3l'

644694

Institutional Source

Beutler Lab

Gene Symbol

Dtx3l

Ensembl Gene

ENSMUSG00000049502

Gene Name

deltex 3-like, E3 ubiquitin ligase

Synonyms

MMRRC Submission

067800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

R8337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35746885-35759397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35754073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 178 (M178L)

Ref Sequence

ENSEMBL: ENSMUSP00000080601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081933] [ENSMUST00000114878] [ENSMUST00000114885]

AlphaFold

Q3UIR3

Predicted Effect

probably benign
Transcript: ENSMUST00000081933
AA Change: M178L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502
AA Change: M178L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114878

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906

Domain	Start	End	E-Value	Type
A1pp	85	221	6.75e-33	SMART
A1pp	289	415	9.37e-9	SMART
PDB:3HKV\|B	619	792	4e-8	PDB
SCOP:d1a26_2	636	754	1e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114885
AA Change: M178L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: M178L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,556,151 (GRCm39)	Y122H	probably damaging	Het
Abhd14b	T	A	9: 106,327,240 (GRCm39)	H7Q	probably benign	Het
Acod1	C	T	14: 103,286,780 (GRCm39)	R28W	possibly damaging	Het
Agap2	A	G	10: 126,924,194 (GRCm39)	T803A	unknown	Het
Angptl7	T	C	4: 148,581,741 (GRCm39)	E215G	probably damaging	Het
Ankrd34c	T	A	9: 89,611,951 (GRCm39)	D130V	probably damaging	Het
BC028528	A	G	3: 95,792,298 (GRCm39)	V144A	probably benign	Het
Cab39l	T	C	14: 59,776,640 (GRCm39)	F274L	probably damaging	Het
Cdsn	T	C	17: 35,866,415 (GRCm39)	S315P	possibly damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,735,394 (GRCm39)	L540*	probably null	Het
Chrna2	G	T	14: 66,387,017 (GRCm39)	E388*	probably null	Het
Ckap4	A	G	10: 84,364,460 (GRCm39)	V201A	probably damaging	Het
Clec4b1	A	G	6: 123,042,922 (GRCm39)	K47R	probably benign	Het
Clvs2	A	T	10: 33,404,484 (GRCm39)	I244N	possibly damaging	Het
Cmtr1	G	A	17: 29,893,151 (GRCm39)	E57K	probably benign	Het
Cxxc1	T	A	18: 74,353,910 (GRCm39)	D565E	possibly damaging	Het
Eml2	A	G	7: 18,930,161 (GRCm39)	D294G	possibly damaging	Het
Flt3	A	G	5: 147,269,698 (GRCm39)		probably null	Het
Frs3	T	A	17: 48,014,777 (GRCm39)	L490Q	probably damaging	Het
Gm6882	G	A	7: 21,161,559 (GRCm39)	T103I	possibly damaging	Het
Gsdmd	C	T	15: 75,736,270 (GRCm39)	T133I	probably benign	Het
Hhipl2	C	A	1: 183,209,540 (GRCm39)	C331*	probably null	Het
Ifnar1	C	A	16: 91,302,224 (GRCm39)	D566E	possibly damaging	Het
Ighv1-34	A	T	12: 114,814,939 (GRCm39)	N74K	probably benign	Het
Itk	T	C	11: 46,233,222 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,122,461 (GRCm39)	D801G	probably benign	Het
Marchf1	T	C	8: 66,871,641 (GRCm39)	L139P	probably damaging	Het
Metap1d	T	C	2: 71,345,982 (GRCm39)	V181A	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mrps25	T	C	6: 92,152,745 (GRCm39)	T92A	probably benign	Het
Mucl3	T	C	17: 35,948,486 (GRCm39)	H371R	possibly damaging	Het
Ntng2	C	A	2: 29,138,050 (GRCm39)	M1I	probably null	Het
Or51b17	C	T	7: 103,542,256 (GRCm39)	G229R	probably benign	Het
Or51q1	A	C	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or8b57	T	C	9: 40,003,695 (GRCm39)	K189R	probably benign	Het
Pla2g12a	A	G	3: 129,672,465 (GRCm39)	D33G	probably damaging	Het
Prlhr	A	G	19: 60,456,284 (GRCm39)	V94A	possibly damaging	Het
Ralgapb	T	A	2: 158,292,192 (GRCm39)	S793T	probably benign	Het
Rapgef6	T	A	11: 54,522,127 (GRCm39)	L455*	probably null	Het
Sbf2	T	C	7: 110,040,669 (GRCm39)	H386R	probably benign	Het
Sec23ip	C	A	7: 128,365,749 (GRCm39)	N539K	probably damaging	Het
Shisa4	A	G	1: 135,300,907 (GRCm39)	L121P	probably damaging	Het
Slc28a2b	C	T	2: 122,355,617 (GRCm39)	T603I	probably benign	Het
Stard9	T	A	2: 120,510,306 (GRCm39)	F296I	probably damaging	Het
Strn3	T	C	12: 51,707,955 (GRCm39)	K147E	probably damaging	Het
Taf5l	T	C	8: 124,724,841 (GRCm39)	N326S	probably benign	Het
Tfb2m	T	A	1: 179,369,914 (GRCm39)	I170L	probably benign	Het
Tfec	T	C	6: 16,845,422 (GRCm39)	N79S	possibly damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Tox3	T	C	8: 91,074,507 (GRCm39)	Y24C	probably damaging	Het
Vmn2r6	A	T	3: 64,463,526 (GRCm39)	L436*	probably null	Het
Vmn2r80	A	G	10: 78,984,707 (GRCm39)	I20V	probably benign	Het
Wdr97	T	C	15: 76,245,684 (GRCm39)	V1307A		Het

Other mutations in Dtx3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Dtx3l	APN	16	35,751,872 (GRCm39)	missense	probably benign	0.10
IGL02255:Dtx3l	APN	16	35,753,706 (GRCm39)	missense	probably benign	0.10
R0560:Dtx3l	UTSW	16	35,753,305 (GRCm39)	missense	probably damaging	1.00
R1123:Dtx3l	UTSW	16	35,753,638 (GRCm39)	missense	probably damaging	1.00
R1127:Dtx3l	UTSW	16	35,759,127 (GRCm39)	missense	possibly damaging	0.74
R1466:Dtx3l	UTSW	16	35,753,098 (GRCm39)	missense	probably damaging	1.00
R1466:Dtx3l	UTSW	16	35,753,098 (GRCm39)	missense	probably damaging	1.00
R1584:Dtx3l	UTSW	16	35,753,098 (GRCm39)	missense	probably damaging	1.00
R1690:Dtx3l	UTSW	16	35,753,638 (GRCm39)	missense	probably damaging	1.00
R1929:Dtx3l	UTSW	16	35,754,059 (GRCm39)	missense	possibly damaging	0.95
R2014:Dtx3l	UTSW	16	35,756,797 (GRCm39)	missense	probably benign	0.08
R2015:Dtx3l	UTSW	16	35,756,797 (GRCm39)	missense	probably benign	0.08
R2255:Dtx3l	UTSW	16	35,756,949 (GRCm39)	missense	probably benign	0.01
R3023:Dtx3l	UTSW	16	35,752,806 (GRCm39)	missense	probably benign	0.01
R3176:Dtx3l	UTSW	16	35,752,543 (GRCm39)	missense	probably benign	0.29
R5224:Dtx3l	UTSW	16	35,759,163 (GRCm39)	missense	possibly damaging	0.93
R5233:Dtx3l	UTSW	16	35,753,608 (GRCm39)	missense	possibly damaging	0.49
R5375:Dtx3l	UTSW	16	35,753,397 (GRCm39)	missense	probably damaging	1.00
R5884:Dtx3l	UTSW	16	35,752,603 (GRCm39)	missense	probably benign
R6821:Dtx3l	UTSW	16	35,753,430 (GRCm39)	missense	probably damaging	1.00
R6994:Dtx3l	UTSW	16	35,751,742 (GRCm39)	critical splice donor site	probably null
R7242:Dtx3l	UTSW	16	35,753,771 (GRCm39)	missense	possibly damaging	0.76
R7270:Dtx3l	UTSW	16	35,754,027 (GRCm39)	missense	probably damaging	1.00
R7837:Dtx3l	UTSW	16	35,751,896 (GRCm39)	missense	probably damaging	1.00
R7866:Dtx3l	UTSW	16	35,759,120 (GRCm39)	missense	probably benign	0.00
R8053:Dtx3l	UTSW	16	35,759,322 (GRCm39)	unclassified	probably benign
R9764:Dtx3l	UTSW	16	35,753,277 (GRCm39)	missense	probably damaging	1.00
Z1176:Dtx3l	UTSW	16	35,753,553 (GRCm39)	missense	probably damaging	0.99
Z1176:Dtx3l	UTSW	16	35,752,827 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAATACTGCTCTGATCAGGG -3'
(R):5'- ACTTAAGAAGTCAGTCACCGC -3'

Sequencing Primer
(F):5'- TGCTCTGATCAGGGGGCTC -3'
(R):5'- AAAGATGGTATAATTTCTGGGTGCC -3'

Posted On

2020-09-02