Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Dnpep'

501675

Institutional Source

Beutler Lab

Gene Symbol

Dnpep

Ensembl Gene

ENSMUSG00000026209

Gene Name

aspartyl aminopeptidase

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75285209-75294298 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 75288635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139739 (fasta)

Gene Model

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

AlphaFold

Q9Z2W0

Predicted Effect

probably null
Transcript: ENSMUST00000066668

SMART Domains

Protein: ENSMUSP00000070821
Gene: ENSMUSG00000026209

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

SMART Domains

Protein: ENSMUSP00000109235
Gene: ENSMUSG00000026209

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

SMART Domains

Protein: ENSMUSP00000140035
Gene: ENSMUSG00000026209

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

SMART Domains

Protein: ENSMUSP00000140864
Gene: ENSMUSG00000026209

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

probably benign
Transcript: ENSMUST00000187075

SMART Domains

Protein: ENSMUSP00000140877
Gene: ENSMUSG00000026209

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

Predicted Effect

probably null
Transcript: ENSMUST00000187836

SMART Domains

Protein: ENSMUSP00000139739
Gene: ENSMUSG00000026209

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: 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

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 benign
Transcript: ENSMUST00000189551

SMART Domains

Protein: ENSMUSP00000140563
Gene: ENSMUSG00000026209

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190005

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

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	probably benign	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
R1803:Dnpep	UTSW	1	75,286,058 (GRCm39)	nonsense	probably null
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
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'- AGCCACCTCTCGAATCATGG -3'
(R):5'- AAGCTTTGTCTGTGACCTTGC -3'

Sequencing Primer
(F):5'- TGGACTCAGACACTGCATTAG -3'
(R):5'- CATGGCTAGAATCTGCCTGAATCG -3'

Posted On

2017-12-01