Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Dtx4'

560907

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

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12466341-12501996 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 12482073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

probably null
Transcript: ENSMUST00000045521

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982

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: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,308,645		probably null	Het
Aass	T	C	6: 23,074,630	K854E	probably damaging	Het
Abcd2	G	T	15: 91,190,682	Y309*	probably null	Het
Ache	G	A	5: 137,291,489	G360D	probably damaging	Het
Acot12	T	C	13: 91,781,242	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303	D603A	probably benign	Het
Adam3	C	A	8: 24,711,401	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,625,028	I925T	probably benign	Het
Arhgap27	C	T	11: 103,360,759	V48M	probably damaging	Het
Atm	A	T	9: 53,512,008		probably null	Het
B4galt4	T	A	16: 38,753,940	F92Y	probably damaging	Het
Brwd1	C	T	16: 96,035,959	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,287,631	R351G	probably damaging	Het
Ccdc80	T	G	16: 45,096,710	S610A	probably benign	Het
Cdh20	C	A	1: 104,954,071	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,278,422	R172*	probably null	Het
Ctnnd1	G	T	2: 84,622,046	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,575,926	L41H	probably damaging	Het
Dclk2	A	T	3: 86,799,602		probably null	Het
Dmwd	C	T	7: 19,080,309	H295Y	probably benign	Het
Dnaic2	T	C	11: 114,757,162	V588A	unknown	Het
Dync2h1	C	A	9: 7,141,059	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 28,104,021	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 106,435,073	L724V	possibly damaging	Het
Gm4070	A	C	7: 105,902,179	S555R	possibly damaging	Het
Gm9195	A	G	14: 72,451,752	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,736	K431T	probably damaging	Het
Grm7	T	G	6: 111,358,569	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,411,094	N94S	probably benign	Het
Hmgcs1	G	T	13: 119,701,084	G195W	probably damaging	Het
Hrc	A	T	7: 45,336,565	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 25,919,637	Q863*	probably null	Het
Lemd2	G	A	17: 27,196,191	P300L	probably damaging	Het
Lnpep	A	T	17: 17,552,910	Y665*	probably null	Het
Lrfn1	A	G	7: 28,467,139	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,067,411	T8A	unknown	Het
Mcm5	T	C	8: 75,121,716		probably null	Het
Med28	A	T	5: 45,523,452	D86V	probably damaging	Het
Mup11	A	G	4: 60,659,726	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,540,198	F383L	probably benign	Het
Nid1	G	C	13: 13,468,385	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892	V147A	probably benign	Het
Olfr361	A	G	2: 37,085,658	V30A	probably benign	Het
Pde9a	G	A	17: 31,420,284	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,174,377	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phf20l1	T	C	15: 66,604,789	I245T	probably benign	Het
Prmt8	C	T	6: 127,689,829	R394H	possibly damaging	Het
Prpf4b	T	A	13: 34,884,011	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225		probably null	Het
Rgs16	T	C	1: 153,741,670	L69P	probably damaging	Het
Robo3	A	T	9: 37,424,724	I482N	probably damaging	Het
Scara3	C	T	14: 65,931,266	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,728,294	H397L	probably benign	Het
Skint11	T	A	4: 114,231,747	L246Q	probably damaging	Het
Skint5	T	A	4: 113,539,339	R1212S	unknown	Het
Slc11a2	T	C	15: 100,402,332	D348G	probably benign	Het
Slc15a2	T	C	16: 36,756,281	K495E	probably benign	Het
Son	T	G	16: 91,662,102	D2072E	unknown	Het
Stau1	A	G	2: 166,963,574	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,116	L153I	possibly damaging	Het
Swi5	A	T	2: 32,287,910	V13E	probably benign	Het
Syne2	A	T	12: 76,031,398		probably null	Het
Synm	T	C	7: 67,734,915	M558V	probably benign	Het
Tep1	T	A	14: 50,824,556		probably null	Het
Tmc6	A	G	11: 117,776,325	V149A	probably benign	Het
Tmem214	T	A	5: 30,870,721	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,850,376		probably null	Het
Txlna	A	G	4: 129,631,278		probably null	Het
Vmn2r26	T	C	6: 124,061,989	I841T	probably damaging	Het
Wasf2	G	A	4: 133,195,734	V452I	probably damaging	Het
Wdr62	C	T	7: 30,252,336	D673N	probably damaging	Het
Wdr78	T	G	4: 103,066,352	I427L	probably benign	Het
Wdr95	C	T	5: 149,595,371	T559I	probably benign	Het
Zbtb40	A	T	4: 136,999,626		probably null	Het
Zfat	T	C	15: 68,180,007	E646G	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
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'- CCCGGGATGAAGGTTAAACTTG -3'
(R):5'- TGAGTGACAGTTGATGCCTG -3'

Sequencing Primer
(F):5'- ATGACTGCCCCTAACTATGGG -3'
(R):5'- ACAGTTGATGCCTGTCTGTTC -3'

Posted On

2019-06-26