Mutagenetix > Incidental Mutation

Incidental Mutation 'R1424:Depp1'

161220

Institutional Source

Beutler Lab

Gene Symbol

Depp1

Ensembl Gene

ENSMUSG00000048489

Gene Name

DEPP1 autophagy regulator

Synonyms

8430408G22Rik, Depp

MMRRC Submission

039480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1424 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

116627645-116629808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116628966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 103 (N103S)

Ref Sequence

ENSEMBL: ENSMUSP00000136165 (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: N103S

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

SMART Domains

Protein: ENSMUSP00000070203
Gene: ENSMUSG00000048489
AA Change: N103S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178241
AA Change: N103S

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

SMART Domains

Protein: ENSMUSP00000136165
Gene: ENSMUSG00000048489
AA Change: N103S

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: ENSMUST00000204555

SMART Domains

Protein: ENSMUSP00000145125
Gene: ENSMUSG00000048489

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

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

97% (57/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	A	12: 72,939,669 (GRCm39)	E415*	probably null	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acad12	C	T	5: 121,742,385 (GRCm39)	A408T	probably benign	Het
Acox2	T	A	14: 8,230,247 (GRCm38)	H632L	probably benign	Het
Anxa5	A	T	3: 36,506,441 (GRCm39)		probably null	Het
Ap1m2	A	T	9: 21,209,500 (GRCm39)	I392N	possibly damaging	Het
Casp2	T	C	6: 42,253,725 (GRCm39)		probably benign	Het
Cel	C	T	2: 28,449,636 (GRCm39)	A243T	probably damaging	Het
Dgka	A	T	10: 128,569,202 (GRCm39)	S177T	possibly damaging	Het
Dnajc6	A	G	4: 101,496,544 (GRCm39)	T836A	possibly damaging	Het
Dock3	T	C	9: 106,790,392 (GRCm39)	S1444G	probably damaging	Het
Dtl	T	C	1: 191,293,649 (GRCm39)	D176G	probably benign	Het
Eif4g1	T	C	16: 20,497,692 (GRCm39)	I230T	probably benign	Het
Fam227a	T	A	15: 79,518,309 (GRCm39)	I328F	probably benign	Het
Fam98a	A	G	17: 75,847,173 (GRCm39)	L179S	probably damaging	Het
Fgb	A	T	3: 82,954,070 (GRCm39)	I56N	probably damaging	Het
Fmo1	C	T	1: 162,657,635 (GRCm39)	R502Q	probably damaging	Het
Fndc3a	C	T	14: 72,811,811 (GRCm39)	A340T	probably damaging	Het
Gli3	C	A	13: 15,900,899 (GRCm39)	Q1429K	probably benign	Het
Gm3443	A	T	19: 21,534,959 (GRCm39)	I75F	possibly damaging	Het
Gtpbp6	C	T	5: 110,252,155 (GRCm39)		probably null	Het
Gtsf1	A	T	15: 103,318,070 (GRCm39)	Y156*	probably null	Het
Hmcn1	T	C	1: 150,522,545 (GRCm39)	T3452A	probably benign	Het
Kcnj10	T	A	1: 172,196,822 (GRCm39)	V112E	probably damaging	Het
Lama3	C	A	18: 12,653,048 (GRCm39)	T256K	probably benign	Het
Lrrc8d	G	A	5: 105,974,782 (GRCm39)	V63M	unknown	Het
Matn3	G	T	12: 9,011,132 (GRCm39)	A348S	possibly damaging	Het
Mmp16	A	G	4: 18,112,121 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,190,594 (GRCm39)	N175S	probably damaging	Het
Or11h4	A	T	14: 50,974,521 (GRCm39)	F33I	probably benign	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Or4c35	C	T	2: 89,808,415 (GRCm39)	Q98*	probably null	Het
Or4k5	C	A	14: 50,385,922 (GRCm39)	M136I	possibly damaging	Het
Pcdhb12	T	A	18: 37,571,132 (GRCm39)	N759K	probably benign	Het
Pcsk2	T	C	2: 143,415,348 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,906,890 (GRCm39)	D2284N	probably damaging	Het
Prdm12	C	T	2: 31,533,823 (GRCm39)	R147C	probably damaging	Het
Ptprz1	A	G	6: 23,000,382 (GRCm39)	D824G	probably benign	Het
Rere	C	T	4: 150,701,495 (GRCm39)	R1292C	probably damaging	Het
Rptor	T	A	11: 119,671,419 (GRCm39)	L294*	probably null	Het
Sbf2	A	T	7: 109,914,233 (GRCm39)	C1650S	probably damaging	Het
Sdk1	C	T	5: 142,147,621 (GRCm39)	T1751I	probably damaging	Het
Sh3bp1	T	C	15: 78,787,899 (GRCm39)		probably null	Het
Shank2	T	A	7: 143,606,109 (GRCm39)	D97E	probably damaging	Het
Tab2	A	C	10: 7,795,812 (GRCm39)	S149R	possibly damaging	Het
Taok1	G	T	11: 77,440,190 (GRCm39)	R606S	probably benign	Het
Tas2r121	A	G	6: 132,677,645 (GRCm39)	L109P	probably damaging	Het
Tmem117	A	G	15: 94,829,689 (GRCm39)	M175V	probably benign	Het
Tmprss11b	T	C	5: 86,812,832 (GRCm39)	K155E	probably benign	Het
Tmtc2	G	T	10: 105,249,229 (GRCm39)	T168N	probably benign	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tsga10ip	C	T	19: 5,440,942 (GRCm39)		probably null	Het
Tuba8	A	G	6: 121,197,470 (GRCm39)	N44S	probably benign	Het
Ube2o	A	G	11: 116,434,558 (GRCm39)	V590A	probably benign	Het
Ush2a	T	G	1: 188,275,075 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,690,229 (GRCm39)	Y368*	probably null	Het

Other mutations in Depp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- TGCCAACGATTCGGGAAATGTCAG -3'
(R):5'- GAAGTCCAGCTTTTCAGGTCGGAG -3'

Sequencing Primer
(F):5'- CCTGGATGACTACGTCAGGTG -3'
(R):5'- CGGAGGTCTGGTGCCTG -3'

Posted On

2014-03-14