Mutagenetix > Incidental Mutation

Incidental Mutation 'R6980:Dtx1'

543764

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 #

R6980 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120680202-120711927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120681357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 592 (E592G)

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: E592G

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

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: E592G

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	A	2: 25,440,866	R1189S	possibly damaging	Het
Abcf2	T	C	5: 24,565,972	Q594R	probably benign	Het
Abhd18	G	A	3: 40,933,780	S353N	probably benign	Het
Adrb1	G	T	19: 56,723,614	A415S	probably benign	Het
Art2b	T	C	7: 101,580,473	N73S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,139		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGT	3: 95,888,168		probably benign	Het
Cacna1a	A	G	8: 84,612,285	M1753V	possibly damaging	Het
Cbx8	A	T	11: 119,039,461	I102N	possibly damaging	Het
Ccdc178	T	A	18: 22,105,563	E332D	probably benign	Het
Cfap74	G	A	4: 155,466,352		probably benign	Het
Chat	A	T	14: 32,424,154	M354K	probably benign	Het
Cmas	A	G	6: 142,756,800	T10A	probably damaging	Het
Cyb561d1	A	T	3: 108,200,159	L51H	probably benign	Het
D030056L22Rik	A	T	19: 18,717,265	N128I	probably damaging	Het
D130043K22Rik	G	T	13: 24,864,781	A423S	probably damaging	Het
Dnah14	T	C	1: 181,648,230	I1349T	probably benign	Het
Dnajb3	T	G	1: 88,205,014	D222A	probably damaging	Het
Dzank1	C	T	2: 144,490,136	G427R	possibly damaging	Het
E130308A19Rik	A	C	4: 59,719,991	K508Q	probably damaging	Het
Eif4e1b	T	A	13: 54,784,103		probably null	Het
Ell2	A	G	13: 75,756,376	M159V	probably null	Het
Eml4	G	A	17: 83,451,017	V377I	probably benign	Het
Fryl	A	T	5: 73,050,430	S2466T	probably benign	Het
Gfpt1	C	A	6: 87,077,089	T426K	probably damaging	Het
Gm28710	T	A	5: 16,826,946	V533D	possibly damaging	Het
Gm49355	T	C	14: 12,307,173		probably benign	Het
Gm5114	T	C	7: 39,409,200	I332V	probably benign	Het
Gpr15	T	A	16: 58,718,742		probably benign	Het
Gpr179	T	C	11: 97,334,858	E2157G	probably benign	Het
Gramd4	A	G	15: 86,131,969	N482S	probably benign	Het
Hfm1	A	T	5: 106,880,477	I829K	probably benign	Het
Hydin	A	T	8: 110,413,284	E728D	possibly damaging	Het
Ifngr2	T	A	16: 91,560,007	V143E	probably damaging	Het
Ift172	T	C	5: 31,257,386	D1390G	probably benign	Het
Kdf1	A	T	4: 133,528,827	D285V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mdn1	G	A	4: 32,726,942		probably null	Het
Megf11	A	G	9: 64,705,850	E1016G	probably damaging	Het
Mixl1	G	A	1: 180,696,888	A42V	possibly damaging	Het
Mpp2	A	G	11: 102,059,328	W567R	probably damaging	Het
Mrgpra6	A	G	7: 47,188,949	L136P	probably damaging	Het
Mroh7	T	A	4: 106,700,237	I759L	probably benign	Het
Nrxn2	A	G	19: 6,450,579	D277G	probably benign	Het
Nup210l	A	T	3: 90,119,927	K205N	probably benign	Het
Olfr1040	A	T	2: 86,146,337	Y132*	probably null	Het
Olfr1284	A	G	2: 111,379,275	I92V	possibly damaging	Het
Olfr475-ps1	A	G	2: 88,623,595	*97W	probably null	Het
Olfr603	T	C	7: 103,383,096	E302G	probably benign	Het
Oxnad1	C	T	14: 32,085,619		probably benign	Het
Pamr1	C	T	2: 102,642,204	T616I	probably benign	Het
Pcdhgb5	C	T	18: 37,733,539	H796Y	possibly damaging	Het
Pdlim7	G	T	13: 55,508,228	D126E	probably benign	Het
Pfdn2	C	T	1: 171,357,897		probably benign	Het
Piezo2	T	A	18: 63,082,961		probably null	Het
Pms2	A	T	5: 143,912,024	I43L	probably benign	Het
Prex2	T	A	1: 11,162,263	S851R	probably benign	Het
Ptpn4	T	A	1: 119,743,421	E202D	possibly damaging	Het
Rnf40	T	A	7: 127,594,677	V455E	probably damaging	Het
Rp1l1	A	G	14: 64,028,720	N585S	probably benign	Het
Rrp12	A	G	19: 41,890,143	S188P	probably damaging	Het
Rsbn1l	T	A	5: 20,896,484	H686L	probably benign	Het
Runx2	C	T	17: 44,735,316	V107I	possibly damaging	Het
Rusc2	A	G	4: 43,422,846	I994M	probably benign	Het
Ryr1	T	A	7: 29,109,387	D420V	probably benign	Het
Sash1	T	C	10: 8,729,848	Q926R	probably benign	Het
Scgb3a2	T	A	18: 43,764,434	I6N	probably damaging	Het
Sdc3	T	A	4: 130,816,922		probably benign	Het
Sik2	A	G	9: 50,897,455	V658A	probably benign	Het
Slc25a39	A	G	11: 102,405,775	V81A	probably damaging	Het
Snai2	T	A	16: 14,708,249	S255T	possibly damaging	Het
Sorbs1	A	T	19: 40,327,616	Y371*	probably null	Het
Spata31d1b	A	T	13: 59,715,422	H128L	probably benign	Het
Spdl1	A	T	11: 34,830,879	M1K	probably null	Het
Tgm3	T	A	2: 130,026,777	N211K	probably benign	Het
Tmem116	T	C	5: 121,467,987		probably null	Het
Tmem132e	T	A	11: 82,438,386		probably null	Het
Tmem53	T	C	4: 117,268,508	C251R	probably damaging	Het
Trcg1	A	C	9: 57,245,573	D551A	probably damaging	Het
Trp63	T	A	16: 25,802,093	F12I	probably benign	Het
Ttn	C	T	2: 76,879,057		probably null	Het
Tubgcp4	T	C	2: 121,195,465	V596A	probably benign	Het
Ugt2a3	A	C	5: 87,325,632	H475Q	probably damaging	Het
Unc79	G	A	12: 103,059,500	R382K	probably damaging	Het
Vmn2r58	T	C	7: 41,864,238	H327R	possibly damaging	Het
Vmn2r7	G	A	3: 64,716,566	T111I	possibly damaging	Het
Zfp318	T	A	17: 46,397,212	Y399N	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
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
R6564:Dtx1	UTSW	5	120695017	missense	probably benign	0.13
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'- AGATCCCCTTAGCGCTTCTG -3'
(R):5'- GTACTAATGACAGGCTCCGAAAG -3'

Sequencing Primer
(F):5'- AGCGCTTCTGGCTCCTC -3'
(R):5'- GGAACGCAGACTCATCTT -3'

Posted On

2019-05-13