Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03139:Dtx1'

410642

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 #

IGL03139

Quality Score

Status

Chromosome

Chromosomal Location

120818267-120849992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120832955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 161 (R161L)

Ref Sequence

ENSEMBL: ENSMUSP00000031607 (fasta)

Gene Model

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

AlphaFold

Q61010

Predicted Effect

probably damaging
Transcript: ENSMUST00000031607
AA Change: R161L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: R161L

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,391,067 (GRCm39)	F97L	probably benign	Het
Acad10	T	C	5: 121,764,145 (GRCm39)	Y928C	probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Atxn7	T	C	14: 14,052,994 (GRCm38)	V144A	probably damaging	Het
Baiap2l2	T	A	15: 79,155,753 (GRCm39)	N107I	probably damaging	Het
Cd180	A	G	13: 102,842,924 (GRCm39)	K657E	probably damaging	Het
Cep192	T	C	18: 67,961,547 (GRCm39)		probably null	Het
Cma2	A	G	14: 56,211,256 (GRCm39)	I183V	probably damaging	Het
Col18a1	C	A	10: 76,949,177 (GRCm39)	A112S	possibly damaging	Het
Ctu2	A	G	8: 123,205,446 (GRCm39)	D100G	possibly damaging	Het
Defb29	T	C	2: 152,380,812 (GRCm39)	K66E	probably damaging	Het
Dis3l	T	A	9: 64,219,232 (GRCm39)	D566V	probably damaging	Het
Efcab6	T	A	15: 83,836,422 (GRCm39)	L436F	probably benign	Het
Fip1l1	A	G	5: 74,731,776 (GRCm39)	I254V	possibly damaging	Het
Gid8	C	A	2: 180,356,501 (GRCm39)	A46E	probably damaging	Het
Grm8	G	T	6: 27,618,649 (GRCm39)	Q398K	probably damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Iigp1c	T	C	18: 60,379,221 (GRCm39)	V252A	probably benign	Het
Kcnt1	T	C	2: 25,784,480 (GRCm39)		probably benign	Het
Lrrc8a	T	C	2: 30,145,683 (GRCm39)	S166P	probably damaging	Het
Map2k6	A	T	11: 110,387,299 (GRCm39)		probably benign	Het
Mmab	A	G	5: 114,571,405 (GRCm39)	L157P	probably damaging	Het
Mmrn1	A	T	6: 60,953,324 (GRCm39)	E535V	probably damaging	Het
Mup4	T	C	4: 59,958,482 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,997,221 (GRCm39)	S820P	probably benign	Het
Or52b4	A	G	7: 102,184,517 (GRCm39)	K188E	possibly damaging	Het
Pik3cg	T	C	12: 32,242,222 (GRCm39)	I963V	probably damaging	Het
Plcg1	T	C	2: 160,590,049 (GRCm39)		probably null	Het
Plscr1	T	C	9: 92,148,438 (GRCm39)		probably benign	Het
Prss36	C	T	7: 127,532,783 (GRCm39)	G202E	probably damaging	Het
Psen2	A	T	1: 180,068,350 (GRCm39)	V101E	probably damaging	Het
Saxo1	T	C	4: 86,405,999 (GRCm39)	M67V	possibly damaging	Het
Sfrp4	G	A	13: 19,807,728 (GRCm39)	M42I	probably damaging	Het
Strn3	C	A	12: 51,699,633 (GRCm39)		probably benign	Het
Tgfb1i1	C	A	7: 127,848,476 (GRCm39)	P197Q	possibly damaging	Het
Thsd4	A	G	9: 59,904,456 (GRCm39)	V580A	probably benign	Het
Tjp1	C	A	7: 64,990,182 (GRCm39)		probably benign	Het
Tprn	C	T	2: 25,154,066 (GRCm39)	A456V	probably benign	Het
Ttc34	T	C	4: 154,945,727 (GRCm39)	Y763H	probably benign	Het
Ttn	T	C	2: 76,601,507 (GRCm39)	T18686A	probably benign	Het
Uggt2	T	A	14: 119,332,722 (GRCm39)	T71S	probably benign	Het
Vmn2r120	T	A	17: 57,831,742 (GRCm39)	Y349F	probably benign	Het
Zbtb41	A	G	1: 139,351,576 (GRCm39)	T230A	probably benign	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
IGL03104:Dtx1	APN	5	120,833,030 (GRCm39)	missense	possibly damaging	0.77
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