Mutagenetix > Incidental Mutations

Incidental Mutation 'R7775:Dtx4'

598867

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: 0.481) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12492010 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 251 (P251Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

probably benign
Transcript: ENSMUST00000045521
AA Change: P251Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: P251Q

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

0.0664

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,562,648	K831E	probably benign	Het
Arpc1a	C	T	5: 145,104,812	R302C	probably benign	Het
Asb5	A	C	8: 54,584,792	H173P		Het
Atp6v0a2	A	G	5: 124,641,505	E186G	probably damaging	Het
Bbs2	A	T	8: 94,089,760		probably null	Het
Capn7	A	G	14: 31,352,410	T257A	probably benign	Het
Car4	T	C	11: 84,965,623	S246P	probably damaging	Het
Chrm5	A	G	2: 112,479,956	S272P	probably benign	Het
Chrna6	T	C	8: 27,407,364	I162V	probably damaging	Het
Chst12	T	A	5: 140,523,621	M1K	probably null	Het
Cldn6	T	A	17: 23,681,607	C182S	probably damaging	Het
Coro6	T	G	11: 77,465,773	D102E	probably benign	Het
Cysltr2	A	G	14: 73,029,763	I169T	probably benign	Het
Dyrk3	C	T	1: 131,129,627	V270I	possibly damaging	Het
Efhc1	A	T	1: 20,979,461	Y515F	probably damaging	Het
Ep300	T	C	15: 81,586,686	S20P	unknown	Het
Fmnl2	C	T	2: 53,073,680	L275F	unknown	Het
Fstl4	C	T	11: 53,176,971	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,940,784	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,251,152	D188E	probably benign	Het
Gm14226	T	A	2: 155,024,710	C196S	possibly damaging	Het
Gm8297	A	G	14: 4,986,951	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,672	R615G	possibly damaging	Het
Ing1	A	G	8: 11,561,814	E178G	probably benign	Het
Kansl3	A	T	1: 36,348,677	L530H	probably damaging	Het
Kcna5	A	T	6: 126,534,805	L120*	probably null	Het
Kif26b	T	A	1: 178,864,876	S461T	probably benign	Het
L3mbtl3	A	T	10: 26,352,317	V15E	unknown	Het
Lama4	A	T	10: 39,078,847	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,235,756	S95P	probably damaging	Het
Liph	G	T	16: 21,958,914	L379I	probably damaging	Het
Lrp2	T	A	2: 69,501,539	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,077	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,849,270	V189G	probably benign	Het
Mpp4	G	A	1: 59,123,513	T543M	not run	Het
Mrps15	A	T	4: 126,051,377	N119I	probably damaging	Het
Olfr203	A	T	16: 59,303,251	I33F	probably damaging	Het
Olfr39	A	G	9: 20,282,412		probably benign	Het
Olfr883	T	A	9: 38,026,667	I287N	probably damaging	Het
Olfr935	T	A	9: 38,994,907	H176L	probably damaging	Het
Olfr963	C	A	9: 39,669,238	F60L	possibly damaging	Het
Pax8	A	G	2: 24,435,901	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,012,680	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,695,525	D342G	probably damaging	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Plau	A	G	14: 20,842,325	S393G	probably benign	Het
Plec	A	T	15: 76,176,935	I2934N	probably damaging	Het
Primpol	G	T	8: 46,586,424	P387Q	probably damaging	Het
Prph2	T	C	17: 46,910,806	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,719	L17P	probably damaging	Het
Pycrl	T	C	15: 75,918,289	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,851,154	N648S	probably damaging	Het
Rapsn	A	G	2: 91,044,948	T359A	probably benign	Het
Sap25	C	T	5: 137,641,924	R66W	probably benign	Het
Setd6	A	T	8: 95,716,238	H101L	probably benign	Het
Slc22a3	G	T	17: 12,464,463	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746		probably null	Het
Tfap2b	G	A	1: 19,234,307	G447D	probably damaging	Het
Txndc2	A	G	17: 65,638,243	V313A	probably benign	Het
Uevld	A	T	7: 46,926,352	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,525,942	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,038,147	V790A	probably benign	Het
Zfp936	A	G	7: 43,190,296	T396A	possibly 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
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
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'- CTGTCTGACCCAGAAGTGAG -3'
(R):5'- TTGGTGATGAGCGTCAAGGC -3'

Sequencing Primer
(F):5'- TAAGTGCTCTGTCACAGCCATGG -3'
(R):5'- ATGAGCGTCAAGGCTGCTG -3'

Posted On

2019-11-26