Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03104:Dtx1'

418887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dtx1

Ensembl Gene

ENSMUSG00000029603

Gene Name

deltex 1, E3 ubiquitin ligase

Synonyms

Fxit1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03104

Quality Score

Status

Chromosome

Chromosomal Location

120818267-120849992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120833030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 136 (Q136L)

Ref Sequence

ENSEMBL: ENSMUSP00000031607 (fasta)

Gene Model

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

AlphaFold

Q61010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031607
AA Change: Q136L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: Q136L

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

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	C	A	1: 58,321,918 (GRCm39)	T70K	probably benign	Het
Armt1	T	A	10: 4,389,615 (GRCm39)	Y91N	possibly damaging	Het
Atp1a2	A	G	1: 172,120,934 (GRCm39)	L46S	probably damaging	Het
Baz1a	A	G	12: 54,941,743 (GRCm39)	S1488P	probably damaging	Het
Coro7	T	A	16: 4,446,990 (GRCm39)	E793V	probably damaging	Het
Ctnnbl1	G	T	2: 157,732,885 (GRCm39)	R555L	probably damaging	Het
Dclk2	A	G	3: 86,743,666 (GRCm39)	C268R	probably damaging	Het
Dock7	A	T	4: 98,847,260 (GRCm39)	M1684K	possibly damaging	Het
Dock8	T	A	19: 25,178,384 (GRCm39)	C2092*	probably null	Het
Egln3	C	T	12: 54,249,981 (GRCm39)		probably benign	Het
Eml5	A	T	12: 98,827,504 (GRCm39)	Y575*	probably null	Het
Entpd5	A	T	12: 84,431,022 (GRCm39)	V310E	probably damaging	Het
Fkbp5	A	G	17: 28,634,946 (GRCm39)	F188L	probably damaging	Het
Frrs1	T	C	3: 116,675,431 (GRCm39)	S120P	probably benign	Het
Gadl1	T	C	9: 115,903,108 (GRCm39)	I479T	possibly damaging	Het
Gfra2	A	T	14: 71,205,725 (GRCm39)	M106L	probably benign	Het
Gm17455	T	A	10: 60,239,060 (GRCm39)	C108*	probably null	Het
Grhpr	A	G	4: 44,983,867 (GRCm39)		probably benign	Het
Hsp90ab1	G	A	17: 45,882,449 (GRCm39)	R82C	probably damaging	Het
Igsf10	T	C	3: 59,226,905 (GRCm39)	Y2256C	probably damaging	Het
Ivd	A	T	2: 118,703,384 (GRCm39)	I160F	probably benign	Het
Krtap5-5	A	G	7: 141,783,450 (GRCm39)	C67R	unknown	Het
Lhx4	A	T	1: 155,580,967 (GRCm39)	V186E	probably damaging	Het
Lrrk2	T	C	15: 91,631,958 (GRCm39)	I1294T	possibly damaging	Het
Map3k5	C	T	10: 20,007,801 (GRCm39)	S1202L	probably benign	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Mov10	G	A	3: 104,704,623 (GRCm39)	R763W	probably damaging	Het
Mto1	T	C	9: 78,356,802 (GRCm39)	S106P	probably damaging	Het
Naca	C	T	10: 127,876,233 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,958,526 (GRCm39)	V86A	probably benign	Het
Or8s10	A	G	15: 98,336,127 (GRCm39)	Y259C	possibly damaging	Het
Pan2	T	C	10: 128,151,532 (GRCm39)		probably benign	Het
Pold1	T	C	7: 44,190,004 (GRCm39)	Y394C	probably damaging	Het
Sipa1l1	T	A	12: 82,388,904 (GRCm39)	S377T	probably benign	Het
Sirpd	G	T	3: 15,397,283 (GRCm39)		probably benign	Het
Slc36a3	A	G	11: 55,015,946 (GRCm39)	S403P	probably damaging	Het
Slc4a4	A	G	5: 89,297,231 (GRCm39)	T480A	probably damaging	Het
Slu7	G	A	11: 43,332,883 (GRCm39)	V315I	probably benign	Het
St6galnac3	T	C	3: 152,911,115 (GRCm39)	E282G	probably damaging	Het
Tlr12	A	G	4: 128,509,685 (GRCm39)	V855A	probably benign	Het
Tut7	T	C	13: 59,962,717 (GRCm39)	D350G	probably benign	Het
Vmn1r53	T	A	6: 90,200,944 (GRCm39)	K127*	probably null	Het
Vmn1r72	T	G	7: 11,403,812 (GRCm39)	H212P	probably damaging	Het
Vmn2r86	T	A	10: 130,282,501 (GRCm39)	Q705L	probably damaging	Het
Vps33b	C	T	7: 79,925,831 (GRCm39)	R93C	probably damaging	Het
Wdr91	T	A	6: 34,882,491 (GRCm39)	E219D	probably benign	Het
Zan	G	A	5: 137,461,762 (GRCm39)	T1139I	unknown	Het
Zc3hav1	T	A	6: 38,317,278 (GRCm39)	K107N	probably damaging	Het
Zmym2	A	G	14: 57,187,784 (GRCm39)	E1150G	possibly damaging	Het

Other mutations in Dtx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02733:Dtx1	APN	5	120,819,500 (GRCm39)	missense	probably damaging	1.00
IGL03139:Dtx1	APN	5	120,832,955 (GRCm39)	missense	probably damaging	0.96
R0094:Dtx1	UTSW	5	120,820,689 (GRCm39)	missense	probably damaging	1.00
R0173:Dtx1	UTSW	5	120,820,818 (GRCm39)	unclassified	probably benign
R0268:Dtx1	UTSW	5	120,819,356 (GRCm39)	missense	probably damaging	1.00
R0375:Dtx1	UTSW	5	120,819,464 (GRCm39)	missense	probably damaging	1.00
R0452:Dtx1	UTSW	5	120,833,057 (GRCm39)	missense	possibly damaging	0.94
R1109:Dtx1	UTSW	5	120,848,484 (GRCm39)	start gained	probably benign
R1456:Dtx1	UTSW	5	120,848,569 (GRCm39)	utr 5 prime	probably benign
R1541:Dtx1	UTSW	5	120,848,411 (GRCm39)	start gained	probably benign
R1554:Dtx1	UTSW	5	120,821,386 (GRCm39)	missense	probably damaging	1.00
R2042:Dtx1	UTSW	5	120,832,541 (GRCm39)	missense	probably benign	0.24
R2568:Dtx1	UTSW	5	120,848,249 (GRCm39)	missense	possibly damaging	0.84
R3946:Dtx1	UTSW	5	120,819,351 (GRCm39)	missense	possibly damaging	0.53
R4697:Dtx1	UTSW	5	120,832,473 (GRCm39)	critical splice donor site	probably null
R6150:Dtx1	UTSW	5	120,819,428 (GRCm39)	missense	probably damaging	1.00
R6564:Dtx1	UTSW	5	120,833,082 (GRCm39)	missense	probably benign	0.13
R6980:Dtx1	UTSW	5	120,819,422 (GRCm39)	missense	probably damaging	1.00
R7000:Dtx1	UTSW	5	120,833,148 (GRCm39)	missense	probably damaging	0.98
R7399:Dtx1	UTSW	5	120,820,458 (GRCm39)	missense	possibly damaging	0.60
R9117:Dtx1	UTSW	5	120,848,356 (GRCm39)	missense	probably benign
Z1176:Dtx1	UTSW	5	120,821,360 (GRCm39)	missense	probably benign
Z1177:Dtx1	UTSW	5	120,819,416 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02