Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03280:Nptx1'

415571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nptx1

Ensembl Gene

ENSMUSG00000025582

Gene Name

neuronal pentraxin 1

Synonyms

D11Bwg1004e, Np1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

119538719-119547753 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119544729 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000026670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026670]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026670
AA Change: T254A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026670
Gene: ENSMUSG00000025582
AA Change: T254A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
coiled coil region	52	72	N/A	INTRINSIC
low complexity region	129	140	N/A	INTRINSIC
PTX	222	428	1.31e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135630

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation of this gene display a mild alteration in retinal ganglion cell innervation but are fertile with no obvious behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416	S188P	probably benign	Het
Bbs5	A	G	2: 69,666,971		probably benign	Het
Ccdc36	T	C	9: 108,404,900	S530G	possibly damaging	Het
Cdh13	G	T	8: 119,314,134	G693W	probably damaging	Het
Cdh7	T	A	1: 110,108,768	Y559*	probably null	Het
Cemip	G	A	7: 83,987,330		probably benign	Het
Crem	A	G	18: 3,273,415		probably benign	Het
Crygf	A	G	1: 65,928,170	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,180,058		probably benign	Het
Fanca	A	G	8: 123,316,459		probably benign	Het
Fkbp15	A	C	4: 62,303,267		probably benign	Het
Gabrp	C	T	11: 33,552,616	R416Q	probably benign	Het
Gm13103	A	T	4: 143,851,919	T250S	possibly damaging	Het
Impg2	T	A	16: 56,268,268	Y1052*	probably null	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Krit1	T	A	5: 3,811,248		probably benign	Het
Lrrn3	T	C	12: 41,454,147	D57G	probably damaging	Het
Macrod1	A	G	19: 7,197,572	E309G	possibly damaging	Het
Notch1	A	T	2: 26,477,874		probably benign	Het
Olfr1121	A	T	2: 87,372,123	D197V	probably damaging	Het
Pigm	A	G	1: 172,376,853	Y52C	probably damaging	Het
Rif1	A	G	2: 52,112,599	T2022A	probably benign	Het
Rint1	T	A	5: 23,817,078	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,604,341	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,342,781		probably benign	Het
Selenop	T	C	15: 3,280,622		probably benign	Het
Siglecf	T	G	7: 43,355,930	V438G	probably benign	Het
St8sia4	T	A	1: 95,653,774		probably benign	Het
Tfeb	T	C	17: 47,785,937	F43S	probably benign	Het
Tgm6	A	G	2: 130,138,931	Y216C	probably damaging	Het
Try10	T	A	6: 41,354,220	V10E	probably benign	Het
Ttn	A	T	2: 76,898,467	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Usp24	T	G	4: 106,380,430	I1095R	probably damaging	Het
Usp34	C	T	11: 23,354,897	H377Y	probably damaging	Het

Other mutations in Nptx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Nptx1	APN	11	119544672	missense	probably damaging	1.00
IGL02027:Nptx1	APN	11	119544596	missense	possibly damaging	0.88
IGL03192:Nptx1	APN	11	119546759	missense	probably benign	0.41
R0220:Nptx1	UTSW	11	119544641	missense	probably damaging	1.00
R0318:Nptx1	UTSW	11	119542541	missense	probably damaging	1.00
R0634:Nptx1	UTSW	11	119543301	missense	possibly damaging	0.76
R1951:Nptx1	UTSW	11	119543180	critical splice donor site	probably null
R2258:Nptx1	UTSW	11	119543316	missense	probably benign	0.10
R2259:Nptx1	UTSW	11	119543316	missense	probably benign	0.10
R2698:Nptx1	UTSW	11	119544843	splice site	probably benign
R3924:Nptx1	UTSW	11	119547507	missense	possibly damaging	0.67
R6429:Nptx1	UTSW	11	119544721	nonsense	probably null
R6866:Nptx1	UTSW	11	119546650	critical splice donor site	probably null
R7246:Nptx1	UTSW	11	119544590	critical splice donor site	probably null
R7808:Nptx1	UTSW	11	119544636	missense	probably damaging	0.97
R8121:Nptx1	UTSW	11	119542666	missense	probably damaging	1.00

Posted On

2016-08-02