Mutagenetix > Incidental Mutations

Incidental Mutation 'R5613:Dtx4'

438114

Institutional Source

Beutler Lab

Gene Symbol

Dtx4

Ensembl Gene

ENSMUSG00000039982

Gene Name

deltex 4, E3 ubiquitin ligase

Synonyms

RNF155

MMRRC Submission

043274-MU

Accession Numbers

Genbank: NM_001047855

Is this an essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R5613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12485403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 337 (S337R)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000045521
AA Change: S337R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: S337R

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

Meta Mutation Damage Score

0.4640

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 97.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,575,334		probably benign	Het
9530053A07Rik	A	T	7: 28,142,878		probably benign	Het
Adamts16	A	C	13: 70,730,134	S1171A	probably benign	Het
Agtr1b	T	C	3: 20,316,260	T61A	probably damaging	Het
Ankrd35	A	G	3: 96,683,018	D257G	possibly damaging	Het
Arhgef5	A	G	6: 43,274,063	T583A	probably benign	Het
Camk2g	T	C	14: 20,737,491	N423S	probably damaging	Het
Cand1	A	T	10: 119,215,323	H293Q	possibly damaging	Het
Chd4	A	C	6: 125,120,546	E1359D	probably damaging	Het
Creb3	T	C	4: 43,566,196	C264R	probably benign	Het
Cul9	T	C	17: 46,503,844	D2171G	probably damaging	Het
Cyp7a1	A	T	4: 6,272,799	L138Q	probably damaging	Het
Dclk1	A	G	3: 55,516,939	T380A	probably benign	Het
Dnm2	T	A	9: 21,472,667	I248N	probably damaging	Het
Dus3l	T	C	17: 56,767,882	S335P	possibly damaging	Het
Dync1h1	T	C	12: 110,632,820	Y1870H	possibly damaging	Het
Eral1	G	A	11: 78,074,404		probably benign	Het
Eya1	G	T	1: 14,302,929		probably benign	Het
Fbxw28	T	A	9: 109,338,533	Y52F	probably benign	Het
Gm5600	A	G	7: 113,708,056		noncoding transcript	Het
Gm5901	A	G	7: 105,377,325	Y100C	probably damaging	Het
Haus3	A	G	5: 34,167,829	L162P	probably damaging	Het
Hivep2	T	C	10: 14,139,495	I1802T	probably damaging	Het
Klf7	G	A	1: 64,042,396	R258C	probably damaging	Het
Mapt	A	G	11: 104,302,390	N66D	possibly damaging	Het
Mypop	G	A	7: 18,991,976		probably benign	Het
Nefm	T	A	14: 68,121,134	K484*	probably null	Het
Nup153	A	C	13: 46,687,271	S954A	possibly damaging	Het
Olfr1251	T	C	2: 89,667,044	N281D	probably damaging	Het
Olfr155	G	A	4: 43,854,528	C73Y	probably damaging	Het
Pkn1	C	T	8: 83,677,761	A543T	probably benign	Het
Ppp1r11	C	A	17: 36,951,488	G7W	probably damaging	Het
Prss52	A	T	14: 64,109,502	N42Y	possibly damaging	Het
Ptger2	T	G	14: 44,989,503	V180G	possibly damaging	Het
Rep15	G	T	6: 147,032,854	V64F	possibly damaging	Het
Rfpl4b	T	A	10: 38,821,377	Q76L	probably benign	Het
Slc11a1	G	A	1: 74,380,906	G191D	probably damaging	Het
Slc16a12	T	C	19: 34,674,958	M263V	probably benign	Het
Spdye4c	A	T	2: 128,592,969	Q95L	possibly damaging	Het
Srfbp1	G	A	18: 52,483,645	D81N	probably damaging	Het
Sspo	G	A	6: 48,455,044	V731M	possibly damaging	Het
Susd6	G	T	12: 80,868,534	G98C	probably damaging	Het
Tlr4	T	A	4: 66,840,885	S638R	possibly damaging	Het
Tnfsf13	G	T	11: 69,683,995		probably null	Het
Tnfsf18	A	G	1: 161,503,728	N149S	possibly damaging	Het
Tor1aip1	T	C	1: 156,033,753	K176E	probably damaging	Het
Trav10	A	T	14: 53,506,026	H28L	probably benign	Het
Trim30a	T	A	7: 104,430,182	K155N	probably damaging	Het
Trpm1	A	G	7: 64,208,411	D333G	probably damaging	Het
Tssk1	T	C	16: 17,894,500	S50P	probably benign	Het
Ttll9	CAAA	CAA	2: 152,973,601		probably null	Het
Ttn	A	T	2: 76,909,652		probably benign	Het
Vmn2r115	A	T	17: 23,345,333	I160L	probably benign	Het
Wdr95	A	T	5: 149,584,470	D396V	probably damaging	Het
Zfp651	T	A	9: 121,767,519	I647N	probably damaging	Het
Zfp799	T	C	17: 32,819,990	Y433C	probably damaging	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
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
R7231:Dtx4	UTSW	19	12469658	nonsense	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'- TATGGAACTGACAGCCCAGTG -3'
(R):5'- TTGTTGGCTTCTGAAGGACAAC -3'

Sequencing Primer
(F):5'- TGGAGGCCCAGTTTTTCAC -3'
(R):5'- GCTGACTTCCGGCATTTGC -3'

Posted On

2016-10-26