Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01907:Mptx1'

179704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mptx1

Ensembl Gene

ENSMUSG00000026531

Gene Name

mucosal pentraxin 1

Synonyms

1810030J14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01907

Quality Score

Status

Chromosome

Chromosomal Location

174158084-174160439 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174160212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 173 (I173L)

Ref Sequence

ENSEMBL: ENSMUSP00000027816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027816]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027816
AA Change: I173L

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027816
Gene: ENSMUSG00000026531
AA Change: I173L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PTX	20	219	1.1e-98	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1g1	T	C	8: 110,569,975 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,514,643 (GRCm39)	D491E	possibly damaging	Het
Cyrib	A	G	15: 63,803,535 (GRCm39)		probably benign	Het
D930020B18Rik	A	G	10: 121,477,915 (GRCm39)	N47D	probably damaging	Het
Gad1	T	C	2: 70,404,470 (GRCm39)	V120A	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Grin2b	T	G	6: 135,710,738 (GRCm39)	E936A	probably damaging	Het
Iars1	T	C	13: 49,863,131 (GRCm39)	F528L	probably damaging	Het
Iyd	C	T	10: 3,490,407 (GRCm39)	P38S	probably damaging	Het
Krt24	A	G	11: 99,176,030 (GRCm39)	F2L	unknown	Het
Mnat1	T	A	12: 73,319,213 (GRCm39)	S279T	probably benign	Het
Or9g20	T	A	2: 85,629,946 (GRCm39)	T223S	probably benign	Het
Per1	T	C	11: 68,996,425 (GRCm39)	S810P	probably benign	Het
Racgap1	T	A	15: 99,524,214 (GRCm39)	K398*	probably null	Het
Rnf133	T	C	6: 23,649,303 (GRCm39)	N209D	probably benign	Het
Rp1	T	C	1: 4,418,730 (GRCm39)	E794G	possibly damaging	Het
Ryr3	A	T	2: 112,699,346 (GRCm39)		probably benign	Het
Slc27a2	A	G	2: 126,429,794 (GRCm39)	T465A	probably benign	Het
Smarca2	T	C	19: 26,675,865 (GRCm39)	M1035T	possibly damaging	Het
Spink5	A	G	18: 44,129,743 (GRCm39)	N445D	probably damaging	Het
Stard3nl	G	A	13: 19,556,759 (GRCm39)	A127V	probably damaging	Het
Trim69	C	T	2: 121,998,142 (GRCm39)	T38M	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp438	G	A	18: 5,213,815 (GRCm39)	A381V	probably damaging	Het

Other mutations in Mptx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Mptx1	APN	1	174,159,964 (GRCm39)	missense	probably damaging	0.98
R5512:Mptx1	UTSW	1	174,160,315 (GRCm39)	missense	probably benign	0.00
R6892:Mptx1	UTSW	1	174,159,831 (GRCm39)	missense	probably benign	0.09
R7854:Mptx1	UTSW	1	174,159,966 (GRCm39)	missense	probably benign

Posted On

2014-05-07