Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Dnpep'

203253

Institutional Source

Beutler Lab

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75285209-75294298 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75286058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 419 (L419*)

Ref Sequence

ENSEMBL: ENSMUSP00000139739 (fasta)

Gene Model

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

AlphaFold

Q9Z2W0

Predicted Effect

probably null
Transcript: ENSMUST00000066668
AA Change: L419*

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209
AA Change: L419*

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 null
Transcript: ENSMUST00000113605
AA Change: L419*

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209
AA Change: L419*

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 null
Transcript: ENSMUST00000185419
AA Change: L419*

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209
AA Change: L419*

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 null
Transcript: ENSMUST00000185797
AA Change: L421*

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209
AA Change: L421*

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 benign
Transcript: ENSMUST00000187000

SMART Domains

Protein: ENSMUSP00000141014
Gene: ENSMUSG00000026209

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187791

Predicted Effect

probably null
Transcript: ENSMUST00000187836
AA Change: L419*

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209
AA Change: L419*

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: ENSMUST00000189551

SMART Domains

Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably damaging	Het

Other mutations in Dnpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:Dnpep	APN	1	75,292,332 (GRCm39)	missense	probably damaging	1.00
P0026:Dnpep	UTSW	1	75,285,329 (GRCm39)	missense	probably benign	0.01
R0126:Dnpep	UTSW	1	75,289,182 (GRCm39)	nonsense	probably null
R0318:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
R0669:Dnpep	UTSW	1	75,288,422 (GRCm39)	unclassified	probably benign
R1076:Dnpep	UTSW	1	75,292,582 (GRCm39)	unclassified	probably benign
R1478:Dnpep	UTSW	1	75,292,671 (GRCm39)	missense	probably damaging	1.00
R3409:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
R3411:Dnpep	UTSW	1	75,293,270 (GRCm39)	missense	probably damaging	1.00
R4590:Dnpep	UTSW	1	75,293,045 (GRCm39)	missense	probably damaging	1.00
R4863:Dnpep	UTSW	1	75,285,874 (GRCm39)	intron	probably benign
R4948:Dnpep	UTSW	1	75,293,404 (GRCm39)	missense	probably benign	0.13
R5873:Dnpep	UTSW	1	75,291,787 (GRCm39)	missense	probably damaging	1.00
R5891:Dnpep	UTSW	1	75,288,456 (GRCm39)	missense	probably benign
R5907:Dnpep	UTSW	1	75,288,635 (GRCm39)	critical splice donor site	probably null
R6143:Dnpep	UTSW	1	75,291,872 (GRCm39)	missense	probably damaging	1.00
R6432:Dnpep	UTSW	1	75,292,022 (GRCm39)	missense	probably benign	0.12
R6433:Dnpep	UTSW	1	75,292,022 (GRCm39)	missense	probably benign	0.12
R7188:Dnpep	UTSW	1	75,292,701 (GRCm39)	missense	probably damaging	1.00
R7189:Dnpep	UTSW	1	75,290,074 (GRCm39)	missense	probably damaging	1.00
R7620:Dnpep	UTSW	1	75,290,092 (GRCm39)	missense	probably benign	0.02
R7682:Dnpep	UTSW	1	75,293,384 (GRCm39)	missense	probably damaging	1.00
R7770:Dnpep	UTSW	1	75,293,890 (GRCm39)	intron	probably benign
R8214:Dnpep	UTSW	1	75,292,642 (GRCm39)	missense	probably damaging	1.00
R9051:Dnpep	UTSW	1	75,292,329 (GRCm39)	missense	probably damaging	1.00
R9055:Dnpep	UTSW	1	75,291,805 (GRCm39)	missense	possibly damaging	0.70
R9081:Dnpep	UTSW	1	75,291,060 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTAGTCCACAGCAATCAGC -3'
(R):5'- GCTCCATATTAGGACTTCCTTGG -3'

Sequencing Primer
(F):5'- AGAACTCCAGTGGTACAG -3'
(R):5'- GGGCTTCATTTATACTAGGCAAGCC -3'

Posted On

2014-06-23