Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Dtx4'

562518

Institutional Source

Beutler Lab

Gene Symbol

Dtx4

Ensembl Gene

ENSMUSG00000039982

Gene Name

deltex 4, E3 ubiquitin ligase

Synonyms

RNF155

MMRRC Submission

045342-MU

Accession Numbers

Genbank: NM_001047855

Essential gene?

Possibly non essential (E-score: 0.422) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 12469658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 557 (G557*)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045521] [ENSMUST00000081035]

AlphaFold

Q6PDK8

Predicted Effect

probably null
Transcript: ENSMUST00000045521
AA Change: G557*

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: G557*

Domain	Start	End	E-Value	Type
WWE	5	86	1.38e-38	SMART
WWE	88	163	6.72e-28	SMART
low complexity region	175	192	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
RING	406	464	2.2e-6	SMART
Blast:RING	510	532	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000081035

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
MACPF	151	350	2.13e-58	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	685	698	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,294,175	T2013S	probably benign	Het
Ablim3	A	G	18: 61,805,064		probably null	Het
Acvrl1	T	A	15: 101,136,223	C206*	probably null	Het
Adamts15	C	A	9: 30,906,158	R541S	probably damaging	Het
Add3	A	G	19: 53,233,146	I230V	probably benign	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,517,540	E862G	probably damaging	Het
Asxl3	A	T	18: 22,411,499		probably null	Het
Atp2b2	G	A	6: 113,765,732	T798M	possibly damaging	Het
Car12	T	C	9: 66,752,317	I208T	probably damaging	Het
Cgn	T	A	3: 94,773,192	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,632,645	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,222,546	V496A	probably benign	Het
Cplx4	C	A	18: 65,957,052	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,224,136	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,609,697	L193P	probably damaging	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Depdc5	C	A	5: 32,901,865	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,532,496	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,813,828	E3218V	probably benign	Het
Dnah9	T	C	11: 65,965,647	D2896G	probably damaging	Het
Eps8l2	A	G	7: 141,360,392	N512D	probably damaging	Het
Fam20a	T	C	11: 109,721,375	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,206,152	S7P	unknown	Het
Fli1	T	C	9: 32,424,188	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Haus8	G	A	8: 71,253,137	T302I	probably benign	Het
Hmcn1	T	C	1: 150,638,876	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,748,417	Q161*	probably null	Het
Hsf4	C	T	8: 105,272,147	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,288,016	W164R		Het
Isl1	A	G	13: 116,303,290	V174A	probably benign	Het
Itih4	A	T	14: 30,896,614	I661F	probably benign	Het
Klhl14	A	T	18: 21,652,136	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,339,282	I177F	unknown	Het
Lingo3	T	A	10: 80,835,104	T331S	possibly damaging	Het
Lrrc36	T	C	8: 105,461,057	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,458,076	S497A	probably benign	Het
Mbip	A	G	12: 56,337,762		probably null	Het
Nelfa	C	T	5: 33,898,825	G498D	probably damaging	Het
Nlrc5	T	A	8: 94,521,805		probably null	Het
Olfr1312	A	T	2: 112,042,366	V222D	probably damaging	Het
Olfr679	T	C	7: 105,085,787	S24P	possibly damaging	Het
Olfr701	A	T	7: 106,818,443	Y120F	probably damaging	Het
Olfr863-ps1	T	A	9: 19,941,559	T294S	unknown	Het
Pde2a	A	G	7: 101,505,953	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,800,957	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,816,188	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,797,658	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,684,060	Y572N	probably benign	Het
Prkcq	T	A	2: 11,290,451	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062	D226V	probably damaging	Het
Rab1b	A	G	19: 5,105,201	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,604,191	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,891	S35R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd15	T	A	12: 87,201,044	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,547,946	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,251,790	H141Q	probably benign	Het
Slc9a3r2	C	T	17: 24,650,104	R16H	probably damaging	Het
Snx21	T	C	2: 164,786,201	S46P	probably benign	Het
Strip2	A	G	6: 29,944,487	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,800,809	P392L	probably damaging	Het
Suclg1	G	A	6: 73,263,971	R161H	probably benign	Het
Tas1r3	T	C	4: 155,862,826	Y134C	probably damaging	Het
Tgif1	T	A	17: 70,846,173	Q114L	probably damaging	Het
Tll2	A	G	19: 41,086,234	F964L	probably benign	Het
Tmem181a	T	C	17: 6,297,920	S247P	possibly damaging	Het
Trav23	A	T	14: 53,977,568	R79S	probably damaging	Het
Trf	C	A	9: 103,225,148	C177F	probably damaging	Het
Triml1	T	C	8: 43,136,371	Y260C	probably benign	Het
Tulp4	T	C	17: 6,236,235	F1513L	probably benign	Het
Umodl1	G	A	17: 30,986,116	V562I	probably damaging	Het
Ush2a	A	G	1: 188,759,763	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,846,961	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,097,638	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 10,053,083	N32K	probably benign	Het
Vps13d	A	G	4: 145,057,462	V3914A		Het
Vwa5b2	A	G	16: 20,604,128	T984A	probably benign	Het
Zc3h3	C	T	15: 75,840,382	V77M	probably damaging	Het
Zfp397	A	T	18: 23,960,358	H300L	probably damaging	Het
Zfp950	G	A	19: 61,119,212	R478C	probably benign	Het

Other mutations in Dtx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Dtx4	APN	19	12478215	missense	possibly damaging	0.88
IGL02173:Dtx4	APN	19	12473257	nonsense	probably null
IGL03127:Dtx4	APN	19	12486500	splice site	probably benign
G5030:Dtx4	UTSW	19	12469579	missense	probably benign	0.07
R0143:Dtx4	UTSW	19	12486482	missense	probably damaging	0.98
R0932:Dtx4	UTSW	19	12492151	missense	probably benign
R1066:Dtx4	UTSW	19	12501009	missense	probably damaging	0.98
R2155:Dtx4	UTSW	19	12485282	nonsense	probably null
R2182:Dtx4	UTSW	19	12483107	missense	probably null	0.75
R2362:Dtx4	UTSW	19	12492535	missense	probably damaging	1.00
R3880:Dtx4	UTSW	19	12486456	missense	probably benign	0.01
R4108:Dtx4	UTSW	19	12501123	missense	probably damaging	0.96
R4361:Dtx4	UTSW	19	12485296	missense	probably benign	0.04
R4943:Dtx4	UTSW	19	12501060	missense	probably damaging	1.00
R5361:Dtx4	UTSW	19	12485262	critical splice donor site	probably null
R5440:Dtx4	UTSW	19	12492317	missense	probably damaging	1.00
R5613:Dtx4	UTSW	19	12485403	missense	probably damaging	0.97
R5614:Dtx4	UTSW	19	12482183	missense	probably damaging	1.00
R5703:Dtx4	UTSW	19	12482210	missense	possibly damaging	0.84
R5994:Dtx4	UTSW	19	12501153	missense	probably damaging	1.00
R6695:Dtx4	UTSW	19	12473235	nonsense	probably null
R7107:Dtx4	UTSW	19	12473260	nonsense	probably null
R7208:Dtx4	UTSW	19	12482073	critical splice donor site	probably null
R7521:Dtx4	UTSW	19	12492497	missense	probably benign	0.30
R7609:Dtx4	UTSW	19	12492281	missense	probably damaging	1.00
R7721:Dtx4	UTSW	19	12482136	missense	probably benign	0.09
R7775:Dtx4	UTSW	19	12492010	missense	probably benign	0.02
R8685:Dtx4	UTSW	19	12469631	missense	probably benign	0.36
Z1176:Dtx4	UTSW	19	12491909	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCATCAACCTTGACTCTC -3'
(R):5'- GCTTAGGGCATCATGATGAAGG -3'

Sequencing Primer
(F):5'- CCTCAGTCCTTTTCATGGGAAGTG -3'
(R):5'- GAAGGGTTGCGGACATCAAGTC -3'

Posted On

2019-06-26