Mutagenetix > Incidental Mutation

Incidental Mutation 'R6564:Dtx1'

522321

Institutional Source

Beutler Lab

Gene Symbol

Dtx1

Ensembl Gene

ENSMUSG00000029603

Gene Name

deltex 1, E3 ubiquitin ligase

Synonyms

Fxit1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120680202-120711927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120695017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 119 (T119S)

Ref Sequence

ENSEMBL: ENSMUSP00000031607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031607]

AlphaFold

Q61010

Predicted Effect

probably benign
Transcript: ENSMUST00000031607
AA Change: T119S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: T119S

Domain	Start	End	E-Value	Type
WWE	23	102	1.29e-38	SMART
WWE	104	179	3.88e-33	SMART
low complexity region	226	251	N/A	INTRINSIC
low complexity region	258	290	N/A	INTRINSIC
low complexity region	367	384	N/A	INTRINSIC
low complexity region	387	397	N/A	INTRINSIC
RING	418	478	5.82e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145174

Meta Mutation Damage Score

0.1343

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile with normal B and T cell devlepment and function and no gross abnormalities in any of the major organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,486,077		probably null	Het
4931429L15Rik	C	A	9: 46,306,904	D179Y	probably damaging	Het
Abca1	A	T	4: 53,034,031	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,309,850	E834V	possibly damaging	Het
Abcc9	T	C	6: 142,603,108	Y1318C	probably damaging	Het
Adam15	C	A	3: 89,347,212	R121L	possibly damaging	Het
Afdn	T	A	17: 13,896,089	M1588K	probably benign	Het
Akap9	T	C	5: 4,028,491	S1849P	probably damaging	Het
Bag6	T	C	17: 35,140,371	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,260,178	V65A	probably benign	Het
Chn1	T	A	2: 73,618,041	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,928,245	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,890,158	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,745	A2759S	probably benign	Het
Doxl2	T	C	6: 48,977,575	V549A	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ezr	C	T	17: 6,742,847	V268M	probably damaging	Het
Fbxl15	T	C	19: 46,329,338	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,646,266	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,786,504	T200A	possibly damaging	Het
H2afx	T	C	9: 44,334,912	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,595,296	M1R	probably null	Het
Kcnt1	A	C	2: 25,911,051	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,177,439	A32S	probably benign	Het
Klkb1	A	T	8: 45,273,634	V444E	probably damaging	Het
Mccc1	T	C	3: 35,976,676	T414A	probably damaging	Het
Miga1	A	C	3: 152,285,322	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,184	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,123,572	L284P	probably damaging	Het
Olfr1411	T	C	1: 92,596,563	S15P	probably benign	Het
Olfr853	G	A	9: 19,537,210	T240I	possibly damaging	Het
Pbld1	T	A	10: 63,072,027	I224N	possibly damaging	Het
Pih1d1	A	T	7: 45,159,819	R276W	probably damaging	Het
Plekhg1	G	T	10: 3,964,153	V1292L	probably damaging	Het
Prex2	A	G	1: 11,101,061		probably null	Het
Rbm6	T	C	9: 107,833,498	Y498C	probably damaging	Het
Reps1	T	A	10: 18,122,392		probably null	Het
Ruvbl1	T	A	6: 88,479,226	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,280,060	F616V	possibly damaging	Het
Spag5	A	T	11: 78,315,575	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,356	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,732,024	F430L	probably damaging	Het
Svs3a	T	A	2: 164,289,350	I21K	probably damaging	Het
Tet3	T	A	6: 83,386,070	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,837,695	K360N	probably benign	Het
Tmem45b	C	G	9: 31,428,005	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,158,287	E40G	probably damaging	Het
Traj40	T	C	14: 54,177,942		probably benign	Het
Trpm5	A	G	7: 143,072,770	S125P	probably damaging	Het
Ttc3	G	T	16: 94,442,611	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,120,889	I74T	probably damaging	Het
Vav2	A	T	2: 27,279,185		probably null	Het
Wbp4	G	T	14: 79,467,428	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,248,042	S821P	probably benign	Het
Wsb2	A	T	5: 117,370,560		probably null	Het
Zic5	A	G	14: 122,459,421	L594P	unknown	Het

Other mutations in Dtx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02733:Dtx1	APN	5	120681435	missense	probably damaging	1.00
IGL03104:Dtx1	APN	5	120694965	missense	possibly damaging	0.77
IGL03139:Dtx1	APN	5	120694890	missense	probably damaging	0.96
R0094:Dtx1	UTSW	5	120682624	missense	probably damaging	1.00
R0173:Dtx1	UTSW	5	120682753	unclassified	probably benign
R0268:Dtx1	UTSW	5	120681291	missense	probably damaging	1.00
R0375:Dtx1	UTSW	5	120681399	missense	probably damaging	1.00
R0452:Dtx1	UTSW	5	120694992	missense	possibly damaging	0.94
R1109:Dtx1	UTSW	5	120710419	start gained	probably benign
R1456:Dtx1	UTSW	5	120710504	utr 5 prime	probably benign
R1541:Dtx1	UTSW	5	120710346	start gained	probably benign
R1554:Dtx1	UTSW	5	120683321	missense	probably damaging	1.00
R2042:Dtx1	UTSW	5	120694476	missense	probably benign	0.24
R2568:Dtx1	UTSW	5	120710184	missense	possibly damaging	0.84
R3946:Dtx1	UTSW	5	120681286	missense	possibly damaging	0.53
R4697:Dtx1	UTSW	5	120694408	critical splice donor site	probably null
R6150:Dtx1	UTSW	5	120681363	missense	probably damaging	1.00
R6980:Dtx1	UTSW	5	120681357	missense	probably damaging	1.00
R7000:Dtx1	UTSW	5	120695083	missense	probably damaging	0.98
R7399:Dtx1	UTSW	5	120682393	missense	possibly damaging	0.60
R9117:Dtx1	UTSW	5	120710291	missense	probably benign
Z1176:Dtx1	UTSW	5	120683295	missense	probably benign
Z1177:Dtx1	UTSW	5	120681351	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCGACTTGGGAATGGAGC -3'
(R):5'- TCTTTACAGCCCCTGGGTAC -3'

Sequencing Primer
(F):5'- TGGAGCCGACAGTGAGC -3'
(R):5'- TTGGTGGCAAGCACCTTC -3'

Posted On

2018-06-06