Mutagenetix > Incidental Mutation

Incidental Mutation 'R0268:Dtx1'

35061

Institutional Source

Beutler Lab

Gene Symbol

Dtx1

Ensembl Gene

ENSMUSG00000029603

Gene Name

deltex 1, E3 ubiquitin ligase

Synonyms

Fxit1

MMRRC Submission

038494-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0268 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

120680202-120711927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120681291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 614 (E614G)

Ref Sequence

ENSEMBL: ENSMUSP00000031607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000031607] [ENSMUST00000156722]

AlphaFold

Q61010

Predicted Effect

probably benign
Transcript: ENSMUST00000031606

SMART Domains

Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602

Domain	Start	End	E-Value	Type
C2	6	113	7.74e-13	SMART
C2	134	231	2e-15	SMART
RasGAP	241	604	3.96e-166	SMART
PH	566	674	2.76e-16	SMART
BTK	674	710	2.24e-4	SMART
low complexity region	731	745	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000031607
AA Change: E614G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: E614G

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: ENSMUST00000144889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154759

Predicted Effect

probably benign
Transcript: ENSMUST00000156722

SMART Domains

Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602

Domain	Start	End	E-Value	Type
C2	6	113	7.74e-13	SMART
C2	134	231	2e-15	SMART
RasGAP	241	604	3.96e-166	SMART
PH	566	674	2.76e-16	SMART
BTK	674	710	2.24e-4	SMART
low complexity region	731	745	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201264

Meta Mutation Damage Score

0.8444

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 95.9%
20x: 93.0%

Validation Efficiency

98% (93/95)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	A	7: 29,574,602		noncoding transcript	Het
5430419D17Rik	A	G	7: 131,238,176	D609G	probably damaging	Het
Aadacl4	A	T	4: 144,622,995	H274L	probably benign	Het
Aldh1a7	T	A	19: 20,709,502		probably null	Het
Ap3m1	A	C	14: 21,037,102		probably benign	Het
Atp5a1	C	A	18: 77,780,195	N356K	probably damaging	Het
AU021092	A	T	16: 5,222,167	M31K	possibly damaging	Het
Avpr1a	T	C	10: 122,449,709	V302A	probably damaging	Het
Bicral	A	G	17: 46,814,052		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Casp8ap2	A	T	4: 32,644,079	I1051F	probably damaging	Het
Cd209e	T	C	8: 3,849,125	I196V	probably benign	Het
Cdc42bpa	G	T	1: 180,155,782		probably benign	Het
Clec16a	T	A	16: 10,644,828	L670*	probably null	Het
Cmtm2b	A	G	8: 104,322,434	E27G	probably damaging	Het
Col4a1	T	A	8: 11,267,588		probably benign	Het
Cyp26b1	A	T	6: 84,574,572	F221I	probably damaging	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Dennd6b	T	C	15: 89,196,229	Q56R	probably benign	Het
Dip2c	G	A	13: 9,637,150	R1270H	probably damaging	Het
Dlg1	T	C	16: 31,684,193	C73R	probably benign	Het
Dnah8	A	G	17: 30,769,707	D3217G	probably damaging	Het
Dut	C	A	2: 125,257,091	A166E	probably damaging	Het
Ebf1	C	A	11: 44,643,413	D166E	probably damaging	Het
Egln2	A	T	7: 27,165,247	D84E	possibly damaging	Het
Exosc7	T	A	9: 123,118,960	S65T	probably benign	Het
Fam83e	G	A	7: 45,726,910	R349Q	probably benign	Het
Fbxl17	G	A	17: 63,385,067		probably benign	Het
Fras1	A	G	5: 96,737,009	N2582S	probably damaging	Het
Fubp1	T	C	3: 152,219,713	V164A	probably damaging	Het
Gfral	A	T	9: 76,197,101	C210S	probably damaging	Het
Gls	GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTG	1: 52,232,694		probably benign	Het
Gm13084	A	T	4: 143,810,768	I331N	probably damaging	Het
Hcn4	A	C	9: 58,860,162	E1002A	unknown	Het
Hcrtr2	A	G	9: 76,228,188	V449A	probably benign	Het
Hectd1	C	A	12: 51,769,107	S1394I	probably damaging	Het
Hectd1	T	C	12: 51,769,108	S1394G	possibly damaging	Het
Hecw2	A	G	1: 53,926,698		probably benign	Het
Herc3	A	G	6: 58,868,628		probably benign	Het
Ipo4	T	C	14: 55,625,942	Q1073R	possibly damaging	Het
Itsn2	G	A	12: 4,700,333	R1199Q	probably benign	Het
Kcnj3	C	A	2: 55,594,959	Y356*	probably null	Het
Klb	T	A	5: 65,348,837	D142E	probably benign	Het
Klhl35	T	A	7: 99,471,751	S409T	probably benign	Het
Krt16	T	A	11: 100,246,525		probably benign	Het
Krt82	C	A	15: 101,541,713	R516L	probably benign	Het
Lce3a	A	T	3: 92,925,731	C21S	unknown	Het
Lims2	A	G	18: 31,944,520	E103G	probably benign	Het
Map2	A	T	1: 66,380,722	K71*	probably null	Het
Mthfr	C	G	4: 148,055,428	S618W	probably damaging	Het
Mycbp2	T	A	14: 103,314,325	R157*	probably null	Het
Nat10	C	A	2: 103,727,917		probably benign	Het
Obscn	G	A	11: 59,067,272	T3810M	possibly damaging	Het
Olfr1161	A	T	2: 88,025,468	I249F	probably damaging	Het
Olfr1354	C	T	10: 78,917,605	T255I	probably damaging	Het
Olfr1375	T	A	11: 51,048,941	M278K	probably damaging	Het
Olfr525	G	A	7: 140,323,155	S152N	possibly damaging	Het
Olfr799	A	T	10: 129,647,176	D16V	possibly damaging	Het
Olfr998	A	G	2: 85,591,301	T254A	possibly damaging	Het
Park7	A	G	4: 150,908,349	V20A	possibly damaging	Het
Pgm1	T	A	5: 64,105,808	V266E	probably damaging	Het
Phip	G	A	9: 82,871,288	T1801I	probably damaging	Het
Pkhd1l1	C	A	15: 44,597,011	H4205Q	probably benign	Het
Ppp1r12a	T	A	10: 108,273,381		probably benign	Het
Ppp1r32	A	G	19: 10,477,085	V329A	possibly damaging	Het
Ptprq	A	T	10: 107,705,548	D372E	probably benign	Het
Ptprr	G	A	10: 116,252,963	V340I	possibly damaging	Het
Qk	A	G	17: 10,209,646		probably benign	Het
Qpct	T	A	17: 79,077,652	D240E	probably benign	Het
Ren1	A	G	1: 133,355,611	T162A	possibly damaging	Het
Rif1	T	C	2: 52,090,286		probably null	Het
Sart3	A	G	5: 113,752,399	V461A	probably damaging	Het
Scgb1b24	G	A	7: 33,743,853	G19R	probably null	Het
Spen	A	T	4: 141,477,557	I1253N	unknown	Het
Sspo	C	A	6: 48,465,555	H1995N	probably benign	Het
Tfap2c	A	G	2: 172,551,503	T113A	probably benign	Het
Togaram2	T	C	17: 71,697,998		probably null	Het
Trim65	T	A	11: 116,126,644		probably benign	Het
Trpm3	T	A	19: 22,897,521		probably null	Het
Ubxn7	T	C	16: 32,360,046	I87T	probably benign	Het
Vav1	T	C	17: 57,296,090	F81L	probably damaging	Het
Vmn2r102	A	G	17: 19,677,850	T376A	probably benign	Het
Vmn2r105	A	T	17: 20,208,676	C713S	probably benign	Het
Zbtb45	C	T	7: 13,008,327	M1I	probably null	Het
Zfp229	A	T	17: 21,745,841	M351L	probably benign	Het
Zfp932	T	C	5: 110,009,063	I176T	probably benign	Het
Zswim1	G	A	2: 164,826,126	E433K	probably damaging	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
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
R6564:Dtx1	UTSW	5	120695017	missense	probably benign	0.13
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'- TTTCCATAGGGAAGTCGCCCTTGC -3'
(R):5'- TGCTGAGATTGCTCATCACCGC -3'

Sequencing Primer
(F):5'- TCTTGCCGGAAGCCACAG -3'
(R):5'- CCTGGGAACGCAGACTCATC -3'

Posted On

2013-05-09