Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Depp1'

228579

Institutional Source

Beutler Lab

Gene Symbol

Depp1

Ensembl Gene

ENSMUSG00000048489

Gene Name

DEPP1 autophagy regulator

Synonyms

8430408G22Rik, Depp

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116627645-116629808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116628683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 9 (V9M)

Ref Sequence

ENSEMBL: ENSMUSP00000145125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035842] [ENSMUST00000067354] [ENSMUST00000178241] [ENSMUST00000203029] [ENSMUST00000204203] [ENSMUST00000204555] [ENSMUST00000204576]

AlphaFold

Q8K2F3

Predicted Effect

probably benign
Transcript: ENSMUST00000035842

SMART Domains

Protein: ENSMUSP00000048267
Gene: ENSMUSG00000042129

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
RA	173	263	1.36e-15	SMART
Pfam:Nore1-SARAH	276	315	1.7e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067354
AA Change: V9M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
AA Change: V9M

Domain	Start	End	E-Value	Type
Pfam:DEPP	25	205	1.1e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178241
AA Change: V9M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
AA Change: V9M

Domain	Start	End	E-Value	Type
Pfam:DEPP	25	205	5.5e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203029

SMART Domains

Protein: ENSMUSP00000144786
Gene: ENSMUSG00000042129

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
RA	173	263	8.7e-18	SMART
Pfam:Nore1-SARAH	276	303	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203634

Predicted Effect

probably benign
Transcript: ENSMUST00000204203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204313

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204555
AA Change: V9M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489
AA Change: V9M

Domain	Start	End	E-Value	Type
Pfam:DEPP	25	70	3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204576

SMART Domains

Protein: ENSMUSP00000145394
Gene: ENSMUSG00000042129

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC

Meta Mutation Damage Score

0.1760

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile and display normal heart and blood vessel development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,826,741 (GRCm39)	W462*	probably null	Het
Aftph	A	T	11: 20,642,571 (GRCm39)	Y821N	probably damaging	Het
Ahnak	A	T	19: 8,985,405 (GRCm39)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,614,575 (GRCm39)	F144L	probably benign	Het
Arid4b	C	T	13: 14,370,037 (GRCm39)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,039,254 (GRCm39)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,233,968 (GRCm39)	N165S	probably damaging	Het
Bod1l	A	T	5: 41,966,085 (GRCm39)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,104,155 (GRCm39)	I825T	probably damaging	Het
C4b	A	G	17: 34,955,075 (GRCm39)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,171,969 (GRCm39)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm39)	F552L	probably benign	Het
Cdh20	G	C	1: 109,976,607 (GRCm39)	A91P	probably damaging	Het
Cela1	A	G	15: 100,573,203 (GRCm39)		probably null	Het
Clk3	T	C	9: 57,658,400 (GRCm39)	Y582C	probably damaging	Het
Cma1	C	T	14: 56,181,155 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,299 (GRCm39)	S95P	probably benign	Het
Cylc1	C	A	X: 110,166,892 (GRCm39)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,791,891 (GRCm39)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,041,524 (GRCm39)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,291,693 (GRCm39)	D226A	possibly damaging	Het
Dlec1	A	C	9: 118,941,154 (GRCm39)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 120,317,341 (GRCm39)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,163,758 (GRCm39)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,927,130 (GRCm39)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,245 (GRCm39)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm39)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,831,248 (GRCm39)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,258,858 (GRCm39)	E9*	probably null	Het
Enpep	T	A	3: 129,074,172 (GRCm39)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,739,110 (GRCm39)	M391K	probably damaging	Het
Fanca	A	C	8: 124,001,220 (GRCm39)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,125,667 (GRCm39)	L74I	probably damaging	Het
Fchsd2	T	A	7: 100,926,624 (GRCm39)	F571L	probably benign	Het
Fhad1	T	C	4: 141,626,560 (GRCm39)	D1345G	probably benign	Het
G2e3	T	C	12: 51,419,389 (GRCm39)	F702L	probably damaging	Het
Glce	A	T	9: 61,968,228 (GRCm39)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,734,183 (GRCm39)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,481,616 (GRCm39)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,331,504 (GRCm39)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,333,834 (GRCm39)	T395M	probably benign	Het
Hdhd2	T	G	18: 77,052,738 (GRCm39)		probably null	Het
Homer2	C	T	7: 81,268,451 (GRCm39)	E70K	probably benign	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Hrh3	T	C	2: 179,743,043 (GRCm39)	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,292,849 (GRCm39)	V153A	probably benign	Het
Igf2r	A	T	17: 12,920,206 (GRCm39)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,150,970 (GRCm39)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,562,314 (GRCm39)	R699*	probably null	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Itsn2	T	G	12: 4,677,879 (GRCm39)	F79V	probably damaging	Het
Jak3	C	A	8: 72,133,358 (GRCm39)	C350*	probably null	Het
Jak3	A	T	8: 72,136,059 (GRCm39)	K620*	probably null	Het
Kcnq5	T	C	1: 21,531,821 (GRCm39)	S421G	probably benign	Het
Kdm2b	A	T	5: 123,021,428 (GRCm39)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,620,047 (GRCm39)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,661,783 (GRCm39)	T2160S	probably benign	Het
Lman1	A	T	18: 66,131,423 (GRCm39)		probably benign	Het
Lmtk3	G	A	7: 45,450,335 (GRCm39)		probably null	Het
Ltb	A	G	17: 35,414,739 (GRCm39)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,008,378 (GRCm39)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,393,712 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,875,354 (GRCm39)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,697,317 (GRCm39)	S678N	probably damaging	Het
Mon2	A	T	10: 122,831,681 (GRCm39)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,056,571 (GRCm39)	N1172S	probably benign	Het
Naa30	C	G	14: 49,410,556 (GRCm39)	S161R	possibly damaging	Het
Ncaph	T	C	2: 126,966,795 (GRCm39)	N220D	probably damaging	Het
Nell1	T	C	7: 50,210,578 (GRCm39)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,089,192 (GRCm39)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 32,408,043 (GRCm39)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j7	A	G	17: 38,234,771 (GRCm39)	T105A	probably benign	Het
Or5d39	T	C	2: 87,979,487 (GRCm39)	Y292C	probably damaging	Het
Or5g29	G	A	2: 85,421,627 (GRCm39)	V248I	possibly damaging	Het
Or5p53	C	T	7: 107,532,868 (GRCm39)	T47M	probably benign	Het
Or6ae1	T	A	7: 139,742,737 (GRCm39)	E42V	probably damaging	Het
Or7d11	A	T	9: 19,965,892 (GRCm39)	I289N	probably damaging	Het
Or7g27	A	G	9: 19,250,352 (GRCm39)	I199V	probably benign	Het
Or7g32	T	A	9: 19,408,533 (GRCm39)	V163E	possibly damaging	Het
Orc5	C	T	5: 22,721,701 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,125,085 (GRCm39)	R691Q	probably benign	Het
Pofut1	T	A	2: 153,085,580 (GRCm39)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,365,238 (GRCm39)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,877,164 (GRCm39)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Pzp	A	T	6: 128,460,673 (GRCm39)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,487,349 (GRCm39)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,542,305 (GRCm39)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 118,867,696 (GRCm39)		probably null	Het
Rsph14	A	T	10: 74,865,603 (GRCm39)	D78E	probably damaging	Het
Rtl9	A	T	X: 141,885,026 (GRCm39)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,431,690 (GRCm39)	H74L	probably damaging	Het
Rusc1	G	A	3: 88,995,155 (GRCm39)	T725I	possibly damaging	Het
Rusf1	A	G	7: 127,887,503 (GRCm39)	L176P	probably damaging	Het
Ryr2	C	T	13: 11,610,622 (GRCm39)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,784,709 (GRCm39)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,027,864 (GRCm39)	N157I	probably benign	Het
Siglece	A	G	7: 43,307,210 (GRCm39)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,032,027 (GRCm39)	T296S	probably damaging	Het
Sorbs2	A	G	8: 46,228,666 (GRCm39)	K276E	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Taar7b	T	C	10: 23,876,573 (GRCm39)	I246T	possibly damaging	Het
Taldo1	A	G	7: 140,976,067 (GRCm39)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 127,174,333 (GRCm39)		probably null	Het
Tars1	C	T	15: 11,394,459 (GRCm39)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,607,780 (GRCm39)	T5I	probably benign	Het
Tex48	T	C	4: 63,525,652 (GRCm39)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,722,736 (GRCm39)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,524,725 (GRCm39)	H243Q	probably benign	Het
Ttn	T	A	2: 76,564,638 (GRCm39)	R26754*	probably null	Het
Ttn	G	A	2: 76,727,924 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,358 (GRCm39)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,850,930 (GRCm39)	R115*	probably null	Het
Umod	T	G	7: 119,075,938 (GRCm39)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,572,938 (GRCm39)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,679,754 (GRCm39)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,610,657 (GRCm39)	D1442E	probably damaging	Het
Utp4	A	G	8: 107,625,153 (GRCm39)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,575,075 (GRCm39)	N127K	probably benign	Het
Vmn2r75	T	A	7: 85,814,372 (GRCm39)	T374S	probably benign	Het
Washc5	A	G	15: 59,222,257 (GRCm39)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,067,213 (GRCm39)		probably null	Het
Wdr89	T	C	12: 75,679,762 (GRCm39)	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,536,017 (GRCm39)	S550P	probably damaging	Het
Zfp69	T	C	4: 120,788,029 (GRCm39)	T429A	probably damaging	Het
Zfpm1	G	T	8: 123,063,331 (GRCm39)	G797C	probably benign	Het

Other mutations in Depp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1424:Depp1	UTSW	6	116,628,966 (GRCm39)	missense	possibly damaging	0.71
R1433:Depp1	UTSW	6	116,629,223 (GRCm39)	missense	possibly damaging	0.95
R1806:Depp1	UTSW	6	116,628,683 (GRCm39)	missense	possibly damaging	0.96
R1807:Depp1	UTSW	6	116,628,683 (GRCm39)	missense	possibly damaging	0.96
R1872:Depp1	UTSW	6	116,628,683 (GRCm39)	missense	possibly damaging	0.96
R1879:Depp1	UTSW	6	116,628,683 (GRCm39)	missense	possibly damaging	0.96
R2207:Depp1	UTSW	6	116,628,683 (GRCm39)	missense	possibly damaging	0.96
R4074:Depp1	UTSW	6	116,629,029 (GRCm39)	missense	possibly damaging	0.71
R4075:Depp1	UTSW	6	116,629,029 (GRCm39)	missense	possibly damaging	0.71
R4724:Depp1	UTSW	6	116,629,096 (GRCm39)	nonsense	probably null
R5229:Depp1	UTSW	6	116,628,992 (GRCm39)	missense	possibly damaging	0.86
R6737:Depp1	UTSW	6	116,629,058 (GRCm39)	missense	possibly damaging	0.51
R7049:Depp1	UTSW	6	116,629,254 (GRCm39)	missense	probably damaging	0.98
R7092:Depp1	UTSW	6	116,628,749 (GRCm39)	missense	probably damaging	0.97
R8729:Depp1	UTSW	6	116,628,762 (GRCm39)	missense	probably damaging	1.00
R8747:Depp1	UTSW	6	116,629,122 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GAGCCTTGGTCTCAGATCTG -3'
(R):5'- TGACGCAAAGAGAGCTGTC -3'

Sequencing Primer
(F):5'- GGTCTCAGATCTGCAGGTTTC -3'
(R):5'- TTCTCTCGAGTCCAGGCTGG -3'

Posted On

2014-09-17