Mutagenetix > Incidental Mutation

Incidental Mutation 'R9740:Npepl1'

731784

Institutional Source

Beutler Lab

Gene Symbol

Npepl1

Ensembl Gene

ENSMUSG00000039263

Gene Name

aminopeptidase-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R9740 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173951904-173964495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 173963283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 438 (N438K)

Ref Sequence

ENSEMBL: ENSMUSP00000042808 (fasta)

Gene Model

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

AlphaFold

Q6NSR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000044415
AA Change: N438K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042808
Gene: ENSMUSG00000039263
AA Change: N438K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	G	11: 5,821,721 (GRCm39)	Y1087D	probably benign	Het
Bdh1	A	G	16: 31,256,853 (GRCm39)	M37V	possibly damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cemip2	A	T	19: 21,822,105 (GRCm39)	M1167L	probably benign	Het
Clec1b	C	T	6: 129,380,549 (GRCm39)	S155L	probably benign	Het
Crym	A	T	7: 119,794,661 (GRCm39)	V186D	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Det1	A	T	7: 78,494,001 (GRCm39)	M1K	probably null	Het
Fam110b	A	G	4: 5,799,070 (GRCm39)	K163E	probably benign	Het
Fam234a	A	T	17: 26,432,789 (GRCm39)	V482E	probably damaging	Het
Grin2b	A	G	6: 135,899,868 (GRCm39)		probably null	Het
Herc1	A	G	9: 66,355,796 (GRCm39)	E2349G	probably damaging	Het
Kdsr	A	G	1: 106,667,126 (GRCm39)	Y210H	possibly damaging	Het
Lcn6	A	T	2: 25,571,191 (GRCm39)	T110S	probably benign	Het
Macf1	T	C	4: 123,266,177 (GRCm39)	H6807R	probably damaging	Het
Macf1	T	C	4: 123,366,853 (GRCm39)	Y2636C	probably damaging	Het
Myh2	T	G	11: 67,080,052 (GRCm39)	I1115S	probably damaging	Het
Nrros	G	A	16: 31,963,667 (GRCm39)	H117Y	possibly damaging	Het
Or12e13	T	C	2: 87,663,895 (GRCm39)	S171P	probably damaging	Het
Pitpnm3	T	C	11: 71,947,102 (GRCm39)	T782A	probably benign	Het
Pla2g4d	T	G	2: 120,107,952 (GRCm39)	Q319P	probably damaging	Het
Ptcd1	A	T	5: 145,096,294 (GRCm39)	D266E	probably benign	Het
Slitrk6	A	C	14: 110,987,430 (GRCm39)	L759W	probably damaging	Het
Slitrk6	T	G	14: 110,987,444 (GRCm39)	L754F	probably benign	Het
Sox5	A	T	6: 144,100,947 (GRCm39)	M14K	probably damaging	Het
Ssmem1	T	A	6: 30,512,454 (GRCm39)	D32E	possibly damaging	Het
St18	A	T	1: 6,873,287 (GRCm39)	R341*	probably null	Het
Stag1	T	C	9: 100,587,288 (GRCm39)	S4P	probably damaging	Het
Suz12	G	T	11: 79,889,920 (GRCm39)	E144*	probably null	Het
Tex52	A	G	6: 128,356,673 (GRCm39)	N122S	possibly damaging	Het
Tril	A	G	6: 53,795,104 (GRCm39)	L706P	possibly damaging	Het
Trim65	T	C	11: 116,021,434 (GRCm39)	D133G	probably benign	Het
Ttc6	A	T	12: 57,736,496 (GRCm39)	I1166F	probably damaging	Het
Zfp709	C	T	8: 72,643,134 (GRCm39)	R188C	probably damaging	Het
Zfp974	A	G	7: 27,610,025 (GRCm39)	C567R	probably damaging	Het
Zmiz1	A	G	14: 25,657,250 (GRCm39)	D842G	possibly damaging	Het

Other mutations in Npepl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Npepl1	APN	2	173,962,341 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Npepl1	UTSW	2	173,963,923 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGCGCCTTTGGAGTGTTCC -3'
(R):5'- CTGAGGAGCTCTGCAAGAAC -3'

Sequencing Primer
(F):5'- TGGAGTGTTCCCTGCCCTG -3'
(R):5'- CTCTGCAAGAACAGGGTAGG -3'

Posted On

2022-11-14