Mutagenetix > Incidental Mutations

Incidental Mutation 'R7521:Dtx4'

582689

Institutional Source

Beutler Lab

Gene Symbol

Dtx4

Ensembl Gene

ENSMUSG00000039982

Gene Name

deltex 4, E3 ubiquitin ligase

Synonyms

RNF155

MMRRC Submission

Accession Numbers

Genbank: NM_001047855

Is this an essential gene?

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

Stock #

R7521 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12492497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 89 (K89E)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

probably benign
Transcript: ENSMUST00000045521
AA Change: K89E

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: K89E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,064,569	N76S	probably benign	Het
Ahnak	T	C	19: 9,002,351	V333A	possibly damaging	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 4,995,844		probably benign	Het
Arid1b	GGCGGC	GGCGGCAGCGGC	17: 4,995,860		probably benign	Het
Arid1b	A	G	17: 5,342,590	T2079A	probably benign	Het
Clca3a2	A	G	3: 144,801,913	*190R	probably null	Het
Cntnap3	G	T	13: 64,772,001	Q681K	probably benign	Het
Coro7	T	C	16: 4,631,482	D689G	probably benign	Het
Dnah9	A	T	11: 65,989,837	S2645T	probably damaging	Het
Dnm3	A	T	1: 162,134,544	L32H	probably damaging	Het
Exph5	T	A	9: 53,374,077	N819K	possibly damaging	Het
Fpgt	A	G	3: 155,087,128	S421P	possibly damaging	Het
Gbp5	T	C	3: 142,500,621	V22A	probably benign	Het
Gpatch1	C	T	7: 35,293,788	R544Q	probably damaging	Het
Grm5	T	A	7: 88,074,272	L590Q	possibly damaging	Het
Hc	T	C	2: 35,045,332	D172G	possibly damaging	Het
Ifi209	A	T	1: 173,642,695	N283I	probably damaging	Het
Igsf11	C	T	16: 39,008,912	T115M	probably damaging	Het
Il17rd	T	A	14: 27,094,866	M320K	probably benign	Het
Kdm5a	T	A	6: 120,432,187	C1610*	probably null	Het
Mast3	T	A	8: 70,788,768	I175L	probably benign	Het
Mif	A	T	10: 75,860,108	S21T	possibly damaging	Het
Mindy2	T	C	9: 70,607,510	Q542R	probably benign	Het
Nalcn	T	A	14: 123,293,458	E1389D	probably damaging	Het
Olfr1101	T	A	2: 86,988,610	T189S	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,894	I272V	probably benign	Het
Olfr543	C	T	7: 102,477,195	R225H	possibly damaging	Het
Olfr873	T	C	9: 20,300,740	I181T	probably benign	Het
Pcsk5	T	A	19: 17,454,832	D1473V	probably benign	Het
Phax	C	T	18: 56,575,918	Q185*	probably null	Het
Ppp2r2b	T	A	18: 43,059,177	S22C	probably benign	Het
Prss40	A	G	1: 34,558,009	F153L	probably benign	Het
Slc22a2	T	C	17: 12,586,823	S154P	probably benign	Het
Speer4a	G	A	5: 26,036,765	T121I	probably damaging	Het
Tacc1	A	G	8: 25,175,252	V488A	possibly damaging	Het
Tdrp	G	A	8: 13,953,831	Q169*	probably null	Het
Tmem30b	C	T	12: 73,545,318	R341H	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
R7231:Dtx4	UTSW	19	12469658	nonsense	probably null
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'- CCATGGGGTAGATGAGGTCTAG -3'
(R):5'- ACACACTACTAGGCAGCATAGG -3'

Sequencing Primer
(F):5'- AGGTCTAGTCGTCGTCTGACAC -3'
(R):5'- ATAGGGCCTGCCACACAGTAG -3'

Posted On

2019-10-17