Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Deptor'

186620

Institutional Source

Beutler Lab

Gene Symbol

Deptor

Ensembl Gene

ENSMUSG00000022419

Gene Name

DEP domain containing MTOR-interacting protein

Synonyms

9130412E02Rik, 4731402B04Rik, D15Ertd336e, D15Ertd597e, Depdc6

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54975713-55122667 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 55081670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023056] [ENSMUST00000096433] [ENSMUST00000100660]

AlphaFold

Q570Y9

Predicted Effect

probably null
Transcript: ENSMUST00000023056

SMART Domains

Protein: ENSMUSP00000023056
Gene: ENSMUSG00000022419

Domain	Start	End	E-Value	Type
DEP	33	107	3.86e-21	SMART
DEP	134	207	1.37e-17	SMART
low complexity region	262	287	N/A	INTRINSIC
PDZ	326	395	8.28e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000096433

SMART Domains

Protein: ENSMUSP00000094167
Gene: ENSMUSG00000022419

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
DEP	45	119	3.86e-21	SMART
DEP	146	219	1.37e-17	SMART
low complexity region	274	299	N/A	INTRINSIC
PDZ	338	407	8.28e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000100660

SMART Domains

Protein: ENSMUSP00000098225
Gene: ENSMUSG00000022419

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
DEP	45	119	3.86e-21	SMART
DEP	146	219	1.37e-17	SMART
low complexity region	274	299	N/A	INTRINSIC
Blast:PDZ	338	367	7e-14	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly damaging	Het

Other mutations in Deptor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01666:Deptor	APN	15	55,012,775 (GRCm39)	missense	probably damaging	1.00
IGL02374:Deptor	APN	15	55,044,357 (GRCm39)	missense	probably damaging	1.00
R1199:Deptor	UTSW	15	55,115,406 (GRCm39)	missense	probably benign	0.00
R4061:Deptor	UTSW	15	55,072,177 (GRCm39)	missense	probably benign
R4688:Deptor	UTSW	15	55,072,177 (GRCm39)	missense	probably benign	0.01
R4731:Deptor	UTSW	15	55,044,406 (GRCm39)	missense	probably benign	0.00
R4732:Deptor	UTSW	15	55,044,406 (GRCm39)	missense	probably benign	0.00
R4733:Deptor	UTSW	15	55,044,406 (GRCm39)	missense	probably benign	0.00
R4757:Deptor	UTSW	15	55,075,674 (GRCm39)	missense	probably damaging	1.00
R5622:Deptor	UTSW	15	55,044,428 (GRCm39)	missense	probably damaging	1.00
R7940:Deptor	UTSW	15	55,072,244 (GRCm39)	missense	probably benign	0.03
R8691:Deptor	UTSW	15	55,083,596 (GRCm39)	missense	possibly damaging	0.93
R8752:Deptor	UTSW	15	55,044,280 (GRCm39)	missense	probably benign	0.00
R9382:Deptor	UTSW	15	54,975,798 (GRCm39)	unclassified	probably benign
Z1177:Deptor	UTSW	15	54,996,855 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAGGTTATGTGCCACCACCG -3'
(R):5'- acaccatgcccCATAGATAGGACTC -3'

Sequencing Primer
(F):5'- ATGGGTCAGACTGTACTCGC -3'
(R):5'- gcccCATAGATAGGACTCTTTCG -3'

Posted On

2014-05-09