Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Napsa'

407634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Napsa

Ensembl Gene

ENSMUSG00000002204

Gene Name

napsin A aspartic peptidase

Synonyms

Kdap, napsin, NAP1, pronapsin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

44221869-44236270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44235220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 335 (Q335L)

Ref Sequence

ENSEMBL: ENSMUSP00000002274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208514] [ENSMUST00000209177] [ENSMUST00000208651]

AlphaFold

O09043

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002274
AA Change: Q335L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204
AA Change: Q335L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Asp	72	396	6.6e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107907

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.5e-31	PFAM
Pfam:Ion_trans_2	450	544	2.4e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	729	745	N/A	INTRINSIC
low complexity region	749	766	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207302

Predicted Effect

probably benign
Transcript: ENSMUST00000207493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207543

Predicted Effect

probably benign
Transcript: ENSMUST00000208514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209101

Predicted Effect

probably benign
Transcript: ENSMUST00000209177

Predicted Effect

probably benign
Transcript: ENSMUST00000208651

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Clpx	G	A	9: 65,230,057 (GRCm39)	V502I	possibly damaging	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Cspg4	A	G	9: 56,805,759 (GRCm39)	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,679,368 (GRCm39)	R359Q	probably damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,957,764 (GRCm39)	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Strada	T	C	11: 106,061,783 (GRCm39)	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		probably null	Het

Other mutations in Napsa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Napsa	APN	7	44,230,845 (GRCm39)	missense	probably benign	0.00
IGL01380:Napsa	APN	7	44,236,098 (GRCm39)	missense	probably damaging	0.99
IGL01521:Napsa	APN	7	44,236,061 (GRCm39)	missense	probably damaging	1.00
IGL01630:Napsa	APN	7	44,236,089 (GRCm39)	missense	probably damaging	1.00
IGL01862:Napsa	APN	7	44,231,917 (GRCm39)	missense	probably damaging	0.99
IGL01935:Napsa	APN	7	44,236,046 (GRCm39)	missense	probably benign	0.01
IGL02421:Napsa	APN	7	44,234,479 (GRCm39)	missense	probably damaging	1.00
IGL02831:Napsa	APN	7	44,236,184 (GRCm39)	missense	probably benign
PIT4131001:Napsa	UTSW	7	44,230,875 (GRCm39)	missense	probably damaging	1.00
R0422:Napsa	UTSW	7	44,234,530 (GRCm39)	missense	probably damaging	1.00
R1542:Napsa	UTSW	7	44,231,113 (GRCm39)	missense	probably damaging	1.00
R1564:Napsa	UTSW	7	44,236,073 (GRCm39)	missense	probably damaging	1.00
R1903:Napsa	UTSW	7	44,231,160 (GRCm39)	missense	probably damaging	1.00
R1964:Napsa	UTSW	7	44,231,109 (GRCm39)	missense	probably benign	0.01
R2366:Napsa	UTSW	7	44,231,909 (GRCm39)	missense	probably damaging	1.00
R3713:Napsa	UTSW	7	44,230,852 (GRCm39)	missense	probably damaging	1.00
R5441:Napsa	UTSW	7	44,230,817 (GRCm39)	unclassified	probably benign
R5512:Napsa	UTSW	7	44,222,040 (GRCm39)	start codon destroyed	probably null	0.01
R5682:Napsa	UTSW	7	44,234,768 (GRCm39)	missense	possibly damaging	0.92
R6290:Napsa	UTSW	7	44,230,761 (GRCm39)	missense	probably benign	0.00
R7046:Napsa	UTSW	7	44,234,509 (GRCm39)	missense	probably damaging	1.00
R7134:Napsa	UTSW	7	44,235,159 (GRCm39)	missense	probably benign	0.04
R7677:Napsa	UTSW	7	44,231,130 (GRCm39)	nonsense	probably null
R7950:Napsa	UTSW	7	44,234,758 (GRCm39)	missense	probably benign	0.13
R7983:Napsa	UTSW	7	44,234,751 (GRCm39)	missense	possibly damaging	0.88
R9068:Napsa	UTSW	7	44,235,223 (GRCm39)	missense	probably damaging	1.00
R9336:Napsa	UTSW	7	44,231,769 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02