Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Depp1'

316459

Institutional Source

Beutler Lab

Gene Symbol

Depp1

Ensembl Gene

ENSMUSG00000048489

Gene Name

DEPP1 autophagy regulator

Synonyms

8430408G22Rik, Depp

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116627645-116629808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116629029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 124 (N124S)

Ref Sequence

ENSEMBL: ENSMUSP00000136165 (fasta)

Gene Model

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

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: N124S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
AA Change: N124S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178241
AA Change: N124S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
AA Change: N124S

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204555

SMART Domains

Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Naip5	G	A	13: 100,382,572 (GRCm39)	R46W	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm39)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	probably damaging	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
R2060: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
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'- AGTGCTGGACAAGGTCACAG -3'
(R):5'- GTTCATGGATCACTGGGAGG -3'

Sequencing Primer
(F):5'- TGGACAAGGTCACAGCCCAG -3'
(R):5'- TGCAAATAGAGAGTACCTAGGATAC -3'

Posted On

2015-05-15