Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01651:Npepl1'

102848

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npepl1

Ensembl Gene

ENSMUSG00000039263

Gene Name

aminopeptidase-like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL01651

Quality Score

Status

Chromosome

Chromosomal Location

174110349-174123070 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 174114388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044415]

AlphaFold

Q6NSR8

Predicted Effect

probably benign
Transcript: ENSMUST00000044415

SMART Domains

Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263

Domain	Start	End	E-Value	Type
low complexity region	22	32	N/A	INTRINSIC
Pfam:Peptidase_M17	179	484	1.9e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125502

SMART Domains

Protein: ENSMUSP00000133202
Gene: ENSMUSG00000039263

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M17	104	207	4.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153957

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	T	C	2: 181,494,738		probably benign	Het
Alms1	T	A	6: 85,656,476	V2980E	probably benign	Het
Anxa7	A	G	14: 20,456,501	L457P	probably damaging	Het
Asic2	T	C	11: 80,894,030	D310G	probably damaging	Het
Btbd9	T	C	17: 30,220,417	S599G	unknown	Het
Col25a1	G	A	3: 130,566,485	M487I	probably benign	Het
Ddx42	T	A	11: 106,248,029	F885I	probably benign	Het
Foxi3	T	C	6: 70,956,991	V154A	probably damaging	Het
Golga3	A	C	5: 110,192,905		probably null	Het
Igdcc4	T	C	9: 65,124,112	V491A	possibly damaging	Het
Kcnh7	T	A	2: 62,734,284	D877V	possibly damaging	Het
Kcnu1	A	G	8: 25,861,095	D162G	probably damaging	Het
Morc2a	T	C	11: 3,658,727		probably null	Het
Ndufv2	T	C	17: 66,089,471	N47S	possibly damaging	Het
Olfr424	A	T	1: 174,137,341	D199V	probably damaging	Het
Otud7b	C	T	3: 96,153,490	Q441*	probably null	Het
Pard3b	A	C	1: 62,479,804		probably benign	Het
Pfkfb3	T	C	2: 11,489,684	E143G	probably damaging	Het
Pphln1	C	A	15: 93,488,983	Q321K	probably damaging	Het
Rnf121	A	G	7: 102,042,655	S2P	probably damaging	Het
Slc25a42	G	A	8: 70,186,600	R276C	possibly damaging	Het
Smgc	T	C	15: 91,859,788		probably benign	Het
Tdrd5	C	T	1: 156,301,827	M104I	probably benign	Het
Vmn2r26	T	A	6: 124,050,673	N457K	probably benign	Het
Zfp474	T	C	18: 52,638,583	S103P	probably damaging	Het
Zfp53	A	G	17: 21,508,086	N127S	probably benign	Het

Other mutations in Npepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Npepl1	APN	2	174120548	missense	probably damaging	1.00
IGL01998:Npepl1	APN	2	174116200	splice site	probably benign
IGL02079:Npepl1	APN	2	174119390	intron	probably benign
R0081:Npepl1	UTSW	2	174116086	missense	probably damaging	1.00
R1236:Npepl1	UTSW	2	174114480	critical splice donor site	probably null
R2350:Npepl1	UTSW	2	174111773	missense	probably benign
R3780:Npepl1	UTSW	2	174120654	missense	probably damaging	1.00
R3950:Npepl1	UTSW	2	174121113	missense	probably damaging	1.00
R4688:Npepl1	UTSW	2	174114442	missense	possibly damaging	0.78
R5650:Npepl1	UTSW	2	174121536	missense	possibly damaging	0.83
R5916:Npepl1	UTSW	2	174121544	missense	probably benign	0.01
R6007:Npepl1	UTSW	2	174121057	missense	probably benign	0.03
R6487:Npepl1	UTSW	2	174111732	missense	probably benign	0.16
R7267:Npepl1	UTSW	2	174122116	missense	probably damaging	1.00
R7881:Npepl1	UTSW	2	174120594	missense	probably damaging	1.00
R8103:Npepl1	UTSW	2	174111209	missense	probably benign	0.00
R9547:Npepl1	UTSW	2	174120237	missense	probably null	0.88
R9740:Npepl1	UTSW	2	174121490	missense	probably damaging	0.99
Z1177:Npepl1	UTSW	2	174122130	missense	probably benign	0.00

Posted On

2014-01-21