Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Dnpep'

292589

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

75307896-75317990 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75315688 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 162 (I162T)

Ref Sequence

ENSEMBL: ENSMUSP00000140563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066668] [ENSMUST00000113605] [ENSMUST00000185419] [ENSMUST00000185797] [ENSMUST00000187000] [ENSMUST00000187075] [ENSMUST00000187836] [ENSMUST00000188652] [ENSMUST00000189282] [ENSMUST00000189551] [ENSMUST00000191254]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066668
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	2.9e-199	PFAM
Pfam:Peptidase_M42	328	455	1.2e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113605
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	9.4e-194	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185419
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	459	7.3e-192	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185797
AA Change: I164T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: I164T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	24	462	2e-190	PFAM
Pfam:Peptidase_M42	330	457	1.9e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186278

Predicted Effect

probably damaging
Transcript: ENSMUST00000187000
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	271	2.9e-102	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000187075
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	222	1.1e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187791

Predicted Effect

probably damaging
Transcript: ENSMUST00000187836
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	460	9.4e-194	PFAM
Pfam:Peptidase_M42	328	455	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188652

SMART Domains

Protein: ENSMUSP00000139532
Gene: ENSMUSG00000026209

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	85	4.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189282

SMART Domains

Protein: ENSMUSP00000141187
Gene: ENSMUSG00000026209

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	57	1.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189551
AA Change: I162T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209
AA Change: I162T

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	22	198	6.4e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190005

Predicted Effect

probably benign
Transcript: ENSMUST00000191254

SMART Domains

Protein: ENSMUSP00000140997
Gene: ENSMUSG00000026209

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M18	24	64	8.8e-11	PFAM
Pfam:Peptidase_M18	60	92	3.6e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Dnpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0026:Dnpep	UTSW	1	75308685	missense	probably benign	0.01
R0126:Dnpep	UTSW	1	75312538	nonsense	probably null
R0318:Dnpep	UTSW	1	75316626	missense	probably damaging	1.00
R0669:Dnpep	UTSW	1	75311778	unclassified	probably benign
R1076:Dnpep	UTSW	1	75315938	unclassified	probably benign
R1478:Dnpep	UTSW	1	75316027	missense	probably damaging	1.00
R1803:Dnpep	UTSW	1	75309414	nonsense	probably null
R3409:Dnpep	UTSW	1	75316626	missense	probably damaging	1.00
R3411:Dnpep	UTSW	1	75316626	missense	probably damaging	1.00
R4590:Dnpep	UTSW	1	75316401	missense	probably damaging	1.00
R4863:Dnpep	UTSW	1	75309230	intron	probably benign
R4948:Dnpep	UTSW	1	75316760	missense	probably benign	0.13
R5873:Dnpep	UTSW	1	75315143	missense	probably damaging	1.00
R5891:Dnpep	UTSW	1	75311812	missense	probably benign
R5907:Dnpep	UTSW	1	75311991	critical splice donor site	probably null
R6143:Dnpep	UTSW	1	75315228	missense	probably damaging	1.00
R6432:Dnpep	UTSW	1	75315378	missense	probably benign	0.12
R6433:Dnpep	UTSW	1	75315378	missense	probably benign	0.12
R7188:Dnpep	UTSW	1	75316057	missense	probably damaging	1.00
R7189:Dnpep	UTSW	1	75313430	missense	probably damaging	1.00
R7620:Dnpep	UTSW	1	75313448	missense	probably benign	0.02
R7682:Dnpep	UTSW	1	75316740	missense	probably damaging	1.00
R7770:Dnpep	UTSW	1	75317246	intron	probably benign
R8214:Dnpep	UTSW	1	75315998	missense	probably damaging	1.00

Posted On

2015-04-16