Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Dtx1'

692589

Institutional Source

Beutler Lab

Gene Symbol

Dtx1

Ensembl Gene

ENSMUSG00000029603

Gene Name

deltex 1, E3 ubiquitin ligase

Synonyms

Fxit1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9117 (G1)

Quality Score

184.009

Status

Validated

Chromosome

Chromosomal Location

120680202-120711927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120710291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000031607 (fasta)

Gene Model

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

AlphaFold

Q61010

Predicted Effect

probably benign
Transcript: ENSMUST00000031607
AA Change: V8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: V8A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
Agfg1	T	G	1: 82,894,495	F516L	possibly damaging	Het
Akap5	T	A	12: 76,327,818	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,506,681	V535I	probably benign	Het
Atg3	T	C	16: 45,186,201	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,746,614	P168L	probably damaging	Het
Ccdc173	G	T	2: 69,781,759	S175*	probably null	Het
Ccr7	A	G	11: 99,145,260	Y279H	probably damaging	Het
Clint1	A	G	11: 45,890,735	T211A	probably damaging	Het
Dchs2	T	G	3: 83,269,355	D873E	probably benign	Het
Dhx30	A	G	9: 110,097,096	L149P	probably damaging	Het
Dnah1	T	C	14: 31,311,624		probably benign	Het
Enpp3	T	A	10: 24,826,180	K91N	possibly damaging	Het
Fcho1	C	T	8: 71,712,068	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,819,191	E308G	probably damaging	Het
Foxb2	T	C	19: 16,873,394	K83E	unknown	Het
Git2	A	G	5: 114,749,560		probably null	Het
Gm10024	T	C	10: 77,711,505	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Herc4	C	A	10: 63,290,521	L551I	probably benign	Het
Igfn1	T	A	1: 135,974,790	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,964,469	H90L	probably benign	Het
Jag2	G	T	12: 112,913,659	Y697*	probably null	Het
Kif1c	T	C	11: 70,704,972	V168A	probably damaging	Het
Lipn	T	C	19: 34,068,641	W5R	probably damaging	Het
Mavs	G	A	2: 131,245,325	A248T	probably benign	Het
Megf10	G	A	18: 57,259,701	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023	H653R	probably benign	Het
Mrps9	T	G	1: 42,903,377	S332A	probably benign	Het
Muc5b	T	C	7: 141,869,333	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,887,917	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,347,807	T1002M	probably benign	Het
Nav3	T	A	10: 109,684,239	M2328L	probably benign	Het
Olfr186	T	C	16: 59,027,290	I206V	probably benign	Het
Olfr917	T	A	9: 38,665,810	E11D	probably benign	Het
Pawr	T	C	10: 108,333,279	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,475,037	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,578,131	D1250G	probably benign	Het
Ptprs	T	A	17: 56,435,853	M430L	possibly damaging	Het
Raly	T	A	2: 154,861,865	S119T	probably damaging	Het
Serpinb6a	A	T	13: 33,925,429	S128T	probably benign	Het
Sirt3	C	T	7: 140,869,449		probably benign	Het
Slc22a7	A	G	17: 46,437,103	F210L	probably damaging	Het
Speg	G	T	1: 75,387,800	S275I	probably damaging	Het
Stk32c	C	T	7: 139,188,225	D47N	unknown	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Sun2	T	C	15: 79,730,316	H295R	probably benign	Het
Syne1	T	C	10: 5,103,667	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,983,818	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943		probably benign	Het
Trim50	A	G	5: 135,353,683	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,965,320	V189A	probably benign	Het
Zfat	C	A	15: 68,187,069	A206S	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
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
Z1176:Dtx1	UTSW	5	120683295	missense	probably benign
Z1177:Dtx1	UTSW	5	120681351	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGGTCGATGATGTAGGGCAC -3'
(R):5'- TAGGACAGACATTGCCTACCG -3'

Sequencing Primer
(F):5'- ACCAGCTGGGCGTCCAC -3'
(R):5'- CCTAACCCAGGCCTCTAGG -3'

Posted On

2021-12-30