Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03394:Ptx4'

421190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptx4

Ensembl Gene

ENSMUSG00000044172

Gene Name

pentraxin 4

Synonyms

1110018H23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL03394

Quality Score

Status

Chromosome

Chromosomal Location

25339734-25344266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25343649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 300 (C300S)

Ref Sequence

ENSEMBL: ENSMUSP00000055984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054930]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054930
AA Change: C300S

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

SMART Domains

Protein: ENSMUSP00000055984
Gene: ENSMUSG00000044172
AA Change: C300S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:HOX	32	122	3e-35	BLAST
coiled coil region	147	182	N/A	INTRINSIC
Pfam:Pentaxin	271	460	7.3e-33	PFAM
Pfam:Laminin_G_3	277	440	2.4e-14	PFAM

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 belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,635,277 (GRCm39)	L242P	probably damaging	Het
Adam22	T	C	5: 8,217,379 (GRCm39)	I139V	probably benign	Het
Ahr	G	T	12: 35,553,751 (GRCm39)	Y789*	probably null	Het
Ankrd27	C	A	7: 35,306,523 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,149,176 (GRCm39)		probably null	Het
Ap4e1	T	A	2: 126,905,317 (GRCm39)	M996K	probably benign	Het
Bglap	T	C	3: 88,291,312 (GRCm39)	K42E	probably benign	Het
Ccdc30	A	T	4: 119,216,779 (GRCm39)	S220R	probably damaging	Het
Clic5	A	G	17: 44,548,105 (GRCm39)	N50S	probably benign	Het
Csnk2a1-ps3	A	T	1: 156,352,792 (GRCm39)	Q331L	probably benign	Het
Cyp20a1	T	G	1: 60,405,840 (GRCm39)	D211E	probably damaging	Het
Dctn1	G	A	6: 83,168,266 (GRCm39)	V408I	possibly damaging	Het
Exoc6	T	C	19: 37,588,020 (GRCm39)	I551T	probably benign	Het
Fat4	C	T	3: 38,946,168 (GRCm39)	T1687M	probably damaging	Het
Fat4	T	A	3: 39,063,513 (GRCm39)	C4490S	probably damaging	Het
Fras1	T	A	5: 96,815,336 (GRCm39)	I1351N	probably damaging	Het
Igkv2-116	T	C	6: 68,129,327 (GRCm39)		noncoding transcript	Het
Iws1	T	G	18: 32,221,301 (GRCm39)		probably benign	Het
Mlh1	A	T	9: 111,097,311 (GRCm39)	I61N	probably damaging	Het
Mtmr7	C	T	8: 41,061,972 (GRCm39)	V38M	probably damaging	Het
Myh7	G	T	14: 55,212,818 (GRCm39)	A1409D	probably damaging	Het
Myt1	A	T	2: 181,439,638 (GRCm39)	I387F	probably damaging	Het
Nars2	A	G	7: 96,689,220 (GRCm39)	N381D	possibly damaging	Het
Nsd3	T	C	8: 26,165,765 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,617,933 (GRCm39)	S162P	probably damaging	Het
Oog2	T	C	4: 143,920,576 (GRCm39)	F3S	probably benign	Het
Or8b1b	A	G	9: 38,375,517 (GRCm39)	Y60C	probably damaging	Het
Oxgr1	T	C	14: 120,260,022 (GRCm39)	M62V	possibly damaging	Het
Pcgf1	A	G	6: 83,056,121 (GRCm39)	Y75C	probably damaging	Het
Ppp3cc	C	A	14: 70,462,477 (GRCm39)	E396*	probably null	Het
Rassf4	C	T	6: 116,618,708 (GRCm39)	V192I	probably damaging	Het
Rundc3b	T	C	5: 8,598,261 (GRCm39)	T203A	possibly damaging	Het
Serpinb3c	T	C	1: 107,199,603 (GRCm39)	D306G	probably benign	Het
Sipa1l2	T	C	8: 126,218,398 (GRCm39)	E313G	possibly damaging	Het
Snx5	G	A	2: 144,095,674 (GRCm39)	A329V	probably damaging	Het
Stx1b	T	C	7: 127,407,056 (GRCm39)	D213G	probably damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Trim50	A	T	5: 135,392,807 (GRCm39)	I241F	probably damaging	Het
Ttn	G	A	2: 76,580,760 (GRCm39)	H23378Y	probably benign	Het
Vmn1r193	T	A	13: 22,403,939 (GRCm39)	M18L	probably benign	Het
Vmn1r226	A	G	17: 20,908,446 (GRCm39)	N226S	probably benign	Het
Vmn2r14	T	A	5: 109,367,702 (GRCm39)	Q430L	probably null	Het
Xirp2	T	A	2: 67,345,538 (GRCm39)	V2593D	probably damaging	Het
Zfp169	A	T	13: 48,643,400 (GRCm39)	F576I	possibly damaging	Het
Zfp667	T	C	7: 6,292,438 (GRCm39)		probably null	Het
Zzef1	A	G	11: 72,777,601 (GRCm39)		probably null	Het

Other mutations in Ptx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Ptx4	APN	17	25,344,022 (GRCm39)	missense	possibly damaging	0.81
IGL03373:Ptx4	APN	17	25,339,873 (GRCm39)	missense	probably benign	0.02
R0559:Ptx4	UTSW	17	25,342,082 (GRCm39)	nonsense	probably null
R3765:Ptx4	UTSW	17	25,341,842 (GRCm39)	missense	probably benign	0.02
R4629:Ptx4	UTSW	17	25,341,737 (GRCm39)	missense	probably damaging	1.00
R4677:Ptx4	UTSW	17	25,342,100 (GRCm39)	missense	probably benign	0.05
R4938:Ptx4	UTSW	17	25,342,139 (GRCm39)	nonsense	probably null
R5170:Ptx4	UTSW	17	25,342,152 (GRCm39)	missense	probably benign	0.01
R5517:Ptx4	UTSW	17	25,343,760 (GRCm39)	missense	possibly damaging	0.58
R6614:Ptx4	UTSW	17	25,341,676 (GRCm39)	missense	possibly damaging	0.70
R6993:Ptx4	UTSW	17	25,343,898 (GRCm39)	missense	possibly damaging	0.70
R7070:Ptx4	UTSW	17	25,341,971 (GRCm39)	missense	probably benign	0.04
R7230:Ptx4	UTSW	17	25,342,077 (GRCm39)	missense	possibly damaging	0.95
R7501:Ptx4	UTSW	17	25,344,166 (GRCm39)	missense	possibly damaging	0.95
R7845:Ptx4	UTSW	17	25,343,928 (GRCm39)	missense	possibly damaging	0.95
R8069:Ptx4	UTSW	17	25,341,753 (GRCm39)	missense	probably damaging	1.00
R8244:Ptx4	UTSW	17	25,341,839 (GRCm39)	missense	possibly damaging	0.87
R8370:Ptx4	UTSW	17	25,342,314 (GRCm39)	missense	possibly damaging	0.90
R8388:Ptx4	UTSW	17	25,339,897 (GRCm39)	missense	probably damaging	0.99
R8798:Ptx4	UTSW	17	25,343,716 (GRCm39)	missense	probably damaging	1.00
R9140:Ptx4	UTSW	17	25,344,180 (GRCm39)	missense	probably damaging	1.00
R9166:Ptx4	UTSW	17	25,343,546 (GRCm39)	critical splice acceptor site	probably null
R9190:Ptx4	UTSW	17	25,342,257 (GRCm39)	missense	possibly damaging	0.90
R9225:Ptx4	UTSW	17	25,341,696 (GRCm39)	missense	probably benign	0.38
R9285:Ptx4	UTSW	17	25,343,930 (GRCm39)	nonsense	probably null

Posted On

2016-08-02