Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00235:Npepl1'

2476

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: 0.162) question?

Stock #

IGL00235

Quality Score

Status

Chromosome

Chromosomal Location

173951904-173964495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 173962341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 336 (V336L)

Ref Sequence

ENSEMBL: ENSMUSP00000042808 (fasta)

Gene Model

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

AlphaFold

Q6NSR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044415
AA Change: V336L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: V336L

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: ENSMUST00000131346

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	G	A	16: 35,073,583 (GRCm39)	E454K	possibly damaging	Het
Agl	T	C	3: 116,565,132 (GRCm39)	H1039R	probably benign	Het
Akap3	T	C	6: 126,842,694 (GRCm39)	F438L	probably benign	Het
Casp1	A	T	9: 5,299,872 (GRCm39)		probably benign	Het
Cnih2	G	T	19: 5,148,301 (GRCm39)		probably benign	Het
Dchs1	G	A	7: 105,407,950 (GRCm39)	R1961C	probably damaging	Het
Defb21	G	A	2: 152,416,712 (GRCm39)	V63I	probably benign	Het
Elovl6	T	A	3: 129,422,025 (GRCm39)	N105K	probably benign	Het
Fam83e	A	T	7: 45,376,493 (GRCm39)	E402V	probably benign	Het
Fat4	T	A	3: 39,036,398 (GRCm39)	I3350N	probably damaging	Het
Gmpr2	C	A	14: 55,913,171 (GRCm39)	F149L	probably damaging	Het
Gucy1b2	C	A	14: 62,643,694 (GRCm39)	V636F	probably damaging	Het
Hapln1	A	C	13: 89,756,261 (GRCm39)	Y355S	probably benign	Het
Hoxb13	G	T	11: 96,085,468 (GRCm39)	C67F	possibly damaging	Het
Hspa12b	T	A	2: 130,976,040 (GRCm39)	I14N	probably damaging	Het
Ighe	C	A	12: 113,235,135 (GRCm39)	V342L	unknown	Het
Ighv1-49	A	T	12: 115,019,076 (GRCm39)	S21T	possibly damaging	Het
Klhl17	A	G	4: 156,318,319 (GRCm39)	I101T	possibly damaging	Het
Lrrd1	T	G	5: 3,900,573 (GRCm39)	L293V	possibly damaging	Het
Lyrm4	T	A	13: 36,276,865 (GRCm39)	K44M	probably damaging	Het
Med15	G	T	16: 17,498,590 (GRCm39)	P101T	probably damaging	Het
Mgat4c	A	T	10: 102,224,581 (GRCm39)	H265L	probably damaging	Het
Mme	T	A	3: 63,247,465 (GRCm39)	I250N	possibly damaging	Het
Mxra8	C	A	4: 155,927,020 (GRCm39)	T318N	probably benign	Het
Nlrp9b	G	A	7: 19,757,203 (GRCm39)	V147I	probably benign	Het
Or1e23	G	A	11: 73,407,236 (GRCm39)	S263L	possibly damaging	Het
Pank2	T	C	2: 131,116,089 (GRCm39)	I169T	possibly damaging	Het
Pgap6	T	C	17: 26,336,493 (GRCm39)	S204P	probably damaging	Het
Pkhd1l1	A	T	15: 44,419,415 (GRCm39)	H2960L	probably damaging	Het
Pnpla8	A	G	12: 44,329,852 (GRCm39)	R135G	probably benign	Het
Prdm8	T	G	5: 98,331,202 (GRCm39)	V18G	probably damaging	Het
Rhox7b	G	T	X: 36,978,539 (GRCm39)	P231T	probably damaging	Het
Rnf121	A	T	7: 101,714,322 (GRCm39)		probably benign	Het
Skap1	T	C	11: 96,380,736 (GRCm39)	F45S	probably damaging	Het
Slc4a5	T	A	6: 83,262,881 (GRCm39)	L791Q	probably damaging	Het
Ssh1	T	C	5: 114,080,637 (GRCm39)	D931G	probably damaging	Het
Txndc16	T	C	14: 45,399,807 (GRCm39)	Y382C	probably damaging	Het
Uhrf2	T	C	19: 30,051,346 (GRCm39)	F307L	probably benign	Het
Zfhx2	C	A	14: 55,300,714 (GRCm39)	A2346S	probably benign	Het

Other mutations in Npepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Npepl1	APN	2	173,956,181 (GRCm39)	splice site	probably benign
IGL01998:Npepl1	APN	2	173,957,993 (GRCm39)	splice site	probably benign
IGL02079:Npepl1	APN	2	173,961,183 (GRCm39)	intron	probably benign
R0081:Npepl1	UTSW	2	173,957,879 (GRCm39)	missense	probably damaging	1.00
R1236:Npepl1	UTSW	2	173,956,273 (GRCm39)	critical splice donor site	probably null
R2350:Npepl1	UTSW	2	173,953,566 (GRCm39)	missense	probably benign
R3780:Npepl1	UTSW	2	173,962,447 (GRCm39)	missense	probably damaging	1.00
R3950:Npepl1	UTSW	2	173,962,906 (GRCm39)	missense	probably damaging	1.00
R4688:Npepl1	UTSW	2	173,956,235 (GRCm39)	missense	possibly damaging	0.78
R5650:Npepl1	UTSW	2	173,963,329 (GRCm39)	missense	possibly damaging	0.83
R5916:Npepl1	UTSW	2	173,963,337 (GRCm39)	missense	probably benign	0.01
R6007:Npepl1	UTSW	2	173,962,850 (GRCm39)	missense	probably benign	0.03
R6487:Npepl1	UTSW	2	173,953,525 (GRCm39)	missense	probably benign	0.16
R7267:Npepl1	UTSW	2	173,963,909 (GRCm39)	missense	probably damaging	1.00
R7881:Npepl1	UTSW	2	173,962,387 (GRCm39)	missense	probably damaging	1.00
R8103:Npepl1	UTSW	2	173,953,002 (GRCm39)	missense	probably benign	0.00
R9547:Npepl1	UTSW	2	173,962,030 (GRCm39)	missense	probably null	0.88
R9740:Npepl1	UTSW	2	173,963,283 (GRCm39)	missense	probably damaging	0.99
Z1177:Npepl1	UTSW	2	173,963,923 (GRCm39)	missense	probably benign	0.00

Posted On

2011-12-09