Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01533:Dtx4'

89854

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dtx4

Ensembl Gene

ENSMUSG00000039982

Gene Name

deltex 4, E3 ubiquitin ligase

Synonyms

RNF155

Accession Numbers

Genbank: NM_001047855

Is this an essential gene?

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

Stock #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12478215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 480 (M480V)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045521
AA Change: M480V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: M480V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,405,418	E757*	probably null	Het
Arhgap15	T	C	2: 44,243,153	V357A	probably damaging	Het
Asb13	T	C	13: 3,642,164	V48A	probably benign	Het
Bbs7	T	C	3: 36,610,235	R74G	possibly damaging	Het
Capn11	T	C	17: 45,632,904	H568R	probably benign	Het
Cbx5	T	C	15: 103,205,634	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,609,956		probably null	Het
Col14a1	C	A	15: 55,420,840	N832K	unknown	Het
Cyp2a4	A	T	7: 26,308,544	K125N	probably damaging	Het
Dhx16	T	C	17: 35,882,047	L215P	probably damaging	Het
Edaradd	A	G	13: 12,478,582		probably benign	Het
Galnt13	T	A	2: 54,880,132	M312K	probably damaging	Het
Gcdh	T	A	8: 84,889,362	R337W	probably damaging	Het
Gm28557	A	T	13: 67,071,332	C109*	probably null	Het
Gpr22	C	T	12: 31,708,710		probably benign	Het
Gria4	T	G	9: 4,502,395	L379F	probably damaging	Het
Gxylt2	T	C	6: 100,783,137	L211P	probably damaging	Het
Igsf10	T	A	3: 59,319,230	I2341F	probably damaging	Het
Macf1	T	C	4: 123,473,873	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,135,721		probably benign	Het
Ncoa3	T	C	2: 166,055,025	S579P	probably benign	Het
Nlgn1	T	C	3: 25,436,363	N400S	possibly damaging	Het
Olfr1141	C	A	2: 87,753,068	R308S	probably benign	Het
Olfr146	C	T	9: 39,018,801	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,308,201	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328	Y59C	probably damaging	Het
Prex2	C	T	1: 11,186,741	Q1226*	probably null	Het
Rab12	A	T	17: 66,497,435	I176K	probably damaging	Het
Ryr2	A	T	13: 11,721,790	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,288,716	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,129,499		probably benign	Het
Smarcb1	C	T	10: 75,916,768		probably null	Het
Sos1	A	G	17: 80,415,082	L845S	probably damaging	Het
Stat4	T	A	1: 52,098,419	N456K	probably damaging	Het
Tex264	A	G	9: 106,673,599	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376	V87A	probably benign	Het
Tmem131	C	T	1: 36,818,722	D778N	probably damaging	Het
Tspan14	A	G	14: 40,916,819	I88T	probably benign	Het
Ttn	A	G	2: 76,951,941	S984P	probably damaging	Het
Ttn	C	A	2: 76,732,574	V28679L	possibly damaging	Het
Vangl1	T	C	3: 102,163,351	E423G	possibly damaging	Het

Other mutations in Dtx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03