Mutagenetix > Incidental Mutation

Incidental Mutation 'R4108:Dtx4'

321507

Institutional Source

Beutler Lab

Gene Symbol

Dtx4

Ensembl Gene

ENSMUSG00000039982

Gene Name

deltex 4, E3 ubiquitin ligase

Synonyms

RNF155

MMRRC Submission

040987-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R4108 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

12443702-12478818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12478487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 32 (A32V)

Ref Sequence

ENSEMBL: ENSMUSP00000040229 (fasta)

Gene Model

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

AlphaFold

Q6PDK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000045521
AA Change: A32V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: A32V

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

0.1203

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (65/67)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,796 (GRCm39)	Y82C	probably damaging	Het
4930579F01Rik	T	C	3: 137,889,431 (GRCm39)	N62S	probably benign	Het
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atp4b	A	G	8: 13,446,640 (GRCm39)		probably null	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Caskin1	C	A	17: 24,721,121 (GRCm39)	T487K	probably benign	Het
Ccr7	C	T	11: 99,036,204 (GRCm39)	M239I	probably damaging	Het
Cdh23	C	A	10: 60,246,601 (GRCm39)	V944L	possibly damaging	Het
Cenpf	A	G	1: 189,416,065 (GRCm39)	S87P	probably damaging	Het
Chd9	A	T	8: 91,737,304 (GRCm39)	D1461V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,353,136 (GRCm39)	M102K	probably damaging	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Eml6	A	C	11: 29,755,136 (GRCm39)	S880A	probably damaging	Het
Fsd2	C	T	7: 81,194,715 (GRCm39)	V483I	probably benign	Het
Inf2	T	C	12: 112,574,015 (GRCm39)	L773P	unknown	Het
Kif26b	A	G	1: 178,744,530 (GRCm39)	Q1095R	possibly damaging	Het
Leprotl1	A	G	8: 34,607,913 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 40,555,099 (GRCm39)	V340A	unknown	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Ncstn	G	T	1: 171,900,111 (GRCm39)	N254K	probably damaging	Het
Nfatc1	T	A	18: 80,741,583 (GRCm39)	H139L	possibly damaging	Het
Nfe2l1	C	T	11: 96,710,220 (GRCm39)		probably null	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2b6	A	G	13: 21,822,952 (GRCm39)	V247A	probably damaging	Het
Or7g26	T	A	9: 19,230,608 (GRCm39)	Y265*	probably null	Het
Otogl	C	T	10: 107,607,105 (GRCm39)	V2093I	probably benign	Het
Phc2	A	G	4: 128,601,776 (GRCm39)	Y77C	probably damaging	Het
Pik3c2g	C	A	6: 139,676,096 (GRCm39)	A80E	probably benign	Het
Plxnd1	G	T	6: 115,936,276 (GRCm39)	H1675N	probably damaging	Het
Pou4f3	A	G	18: 42,528,987 (GRCm39)	K310R	probably damaging	Het
Ppp1r12c	T	C	7: 4,489,565 (GRCm39)	D199G	probably damaging	Het
Prss22	A	G	17: 24,212,847 (GRCm39)	Y297H	probably benign	Het
Psmb7	T	A	2: 38,532,211 (GRCm39)	H78L	probably damaging	Het
Rad51ap2	T	C	12: 11,508,396 (GRCm39)	C773R	probably damaging	Het
Rpl12	A	T	2: 32,851,836 (GRCm39)	N8Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sbf1	T	C	15: 89,172,788 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1a	G	A	7: 127,398,374 (GRCm39)		probably benign	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,221,351 (GRCm39)	V266I	possibly damaging	Het
Smtn	G	A	11: 3,476,449 (GRCm39)	T144I	probably benign	Het
Spta1	A	G	1: 174,002,122 (GRCm39)	N84S	probably benign	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tbcd	T	A	11: 121,384,637 (GRCm39)	H39Q	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Tsg101	T	A	7: 46,542,242 (GRCm39)	D99V	probably damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Ubald1	C	A	16: 4,693,731 (GRCm39)	M61I	probably benign	Het
Ush1c	C	T	7: 45,847,869 (GRCm39)	D465N	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps54	A	G	11: 21,262,877 (GRCm39)	I655V	probably benign	Het

Other mutations in Dtx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01533:Dtx4	APN	19	12,455,579 (GRCm39)	missense	possibly damaging	0.88
IGL02173:Dtx4	APN	19	12,450,621 (GRCm39)	nonsense	probably null
IGL03127:Dtx4	APN	19	12,463,864 (GRCm39)	splice site	probably benign
G5030:Dtx4	UTSW	19	12,446,943 (GRCm39)	missense	probably benign	0.07
R0143:Dtx4	UTSW	19	12,463,846 (GRCm39)	missense	probably damaging	0.98
R0932:Dtx4	UTSW	19	12,469,515 (GRCm39)	missense	probably benign
R1066:Dtx4	UTSW	19	12,478,373 (GRCm39)	missense	probably damaging	0.98
R2155:Dtx4	UTSW	19	12,462,646 (GRCm39)	nonsense	probably null
R2182:Dtx4	UTSW	19	12,460,471 (GRCm39)	missense	probably null	0.75
R2362:Dtx4	UTSW	19	12,469,899 (GRCm39)	missense	probably damaging	1.00
R3880:Dtx4	UTSW	19	12,463,820 (GRCm39)	missense	probably benign	0.01
R4361:Dtx4	UTSW	19	12,462,660 (GRCm39)	missense	probably benign	0.04
R4943:Dtx4	UTSW	19	12,478,424 (GRCm39)	missense	probably damaging	1.00
R5361:Dtx4	UTSW	19	12,462,626 (GRCm39)	critical splice donor site	probably null
R5440:Dtx4	UTSW	19	12,469,681 (GRCm39)	missense	probably damaging	1.00
R5613:Dtx4	UTSW	19	12,462,767 (GRCm39)	missense	probably damaging	0.97
R5614:Dtx4	UTSW	19	12,459,547 (GRCm39)	missense	probably damaging	1.00
R5703:Dtx4	UTSW	19	12,459,574 (GRCm39)	missense	possibly damaging	0.84
R5994:Dtx4	UTSW	19	12,478,517 (GRCm39)	missense	probably damaging	1.00
R6695:Dtx4	UTSW	19	12,450,599 (GRCm39)	nonsense	probably null
R7107:Dtx4	UTSW	19	12,450,624 (GRCm39)	nonsense	probably null
R7208:Dtx4	UTSW	19	12,459,437 (GRCm39)	critical splice donor site	probably null
R7231:Dtx4	UTSW	19	12,447,022 (GRCm39)	nonsense	probably null
R7521:Dtx4	UTSW	19	12,469,861 (GRCm39)	missense	probably benign	0.30
R7609:Dtx4	UTSW	19	12,469,645 (GRCm39)	missense	probably damaging	1.00
R7721:Dtx4	UTSW	19	12,459,500 (GRCm39)	missense	probably benign	0.09
R7775:Dtx4	UTSW	19	12,469,374 (GRCm39)	missense	probably benign	0.02
R8685:Dtx4	UTSW	19	12,446,995 (GRCm39)	missense	probably benign	0.36
Z1176:Dtx4	UTSW	19	12,469,273 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTATAGCTGATACCAGTGAGCAAAG -3'
(R):5'- TTTGCATGAAGCCGCTGGAC -3'

Sequencing Primer
(F):5'- TACCAGTGAGCAAAGCTGGCC -3'
(R):5'- TGTCCCAGTGCCTACGC -3'

Posted On

2015-06-12