Mutagenetix > Incidental Mutation

Incidental Mutation 'R9239:Pipox'

700643

Institutional Source

Beutler Lab

Gene Symbol

Pipox

Ensembl Gene

ENSMUSG00000017453

Gene Name

pipecolic acid oxidase

Synonyms

Pso

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77771440-77784698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77774765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 106 (I106T)

Ref Sequence

ENSEMBL: ENSMUSP00000017597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017597]

AlphaFold

Q9D826

Predicted Effect

probably benign
Transcript: ENSMUST00000017597
AA Change: I106T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: I106T

Domain	Start	End	E-Value	Type
Pfam:DAO	9	364	3.1e-49	PFAM
Pfam:NAD_binding_8	12	54	1.2e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,608 (GRCm39)		probably null	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Alk	T	A	17: 72,256,864 (GRCm39)	N665I	probably benign	Het
Anxa4	T	A	6: 86,734,812 (GRCm39)	T59S	probably benign	Het
B3gnt8	ACCCC	ACCC	7: 25,327,676 (GRCm39)		probably null	Het
Cabs1	G	A	5: 88,127,385 (GRCm39)	R12Q	probably benign	Het
Cep152	A	G	2: 125,425,830 (GRCm39)	V845A	probably benign	Het
Dipk1a	T	C	5: 108,059,572 (GRCm39)	E127G	possibly damaging	Het
Dsg1a	T	A	18: 20,473,750 (GRCm39)	V941E	probably damaging	Het
Fbxo11	G	T	17: 88,316,522 (GRCm39)	H284N		Het
Fubp1	A	G	3: 151,923,486 (GRCm39)	E98G	probably damaging	Het
Fyco1	A	G	9: 123,626,637 (GRCm39)	I1358T	probably damaging	Het
Ginm1	T	C	10: 7,649,825 (GRCm39)	N156S	possibly damaging	Het
Gm3739	T	C	14: 18,505,221 (GRCm39)	Y101C	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Itgb4	T	C	11: 115,898,130 (GRCm39)	V1644A	probably damaging	Het
Itpka	A	G	2: 119,580,023 (GRCm39)	D254G	probably damaging	Het
Kat7	T	A	11: 95,197,020 (GRCm39)	R6S	probably benign	Het
Klhl40	A	T	9: 121,607,637 (GRCm39)	T266S	probably benign	Het
Lratd1	A	G	12: 14,200,185 (GRCm39)	W181R	probably damaging	Het
Mmaa	T	C	8: 79,995,856 (GRCm39)	D289G	probably damaging	Het
Muc5ac	A	T	7: 141,353,954 (GRCm39)	D851V	probably damaging	Het
Or1e29	A	G	11: 73,667,346 (GRCm39)	V269A	probably benign	Het
Or52n4	G	T	7: 104,293,746 (GRCm39)	H278N	probably damaging	Het
Or6b3	T	C	1: 92,439,454 (GRCm39)	T99A	probably benign	Het
Pcdh17	T	G	14: 84,770,649 (GRCm39)	I1042M	probably benign	Het
Ppcs	C	T	4: 119,276,235 (GRCm39)	V290M	possibly damaging	Het
Rnasel	T	A	1: 153,630,097 (GRCm39)	N204K	probably damaging	Het
Runx1	A	G	16: 92,402,935 (GRCm39)	Y336H	probably damaging	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Serpina3f	A	G	12: 104,184,710 (GRCm39)	R285G	possibly damaging	Het
Slc25a2	A	T	18: 37,771,169 (GRCm39)	M120K	possibly damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spats2l	A	G	1: 57,871,257 (GRCm39)		probably benign	Het
Spopfm1	T	A	3: 94,173,871 (GRCm39)	V289E	probably benign	Het
Taf1b	T	A	12: 24,606,015 (GRCm39)	L431H	probably damaging	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Het
Thsd7b	G	A	1: 130,087,453 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,165,078 (GRCm39)	Y594H	possibly damaging	Het
Trim33	T	C	3: 103,237,453 (GRCm39)	F599L	probably benign	Het
Vcl	A	G	14: 21,072,092 (GRCm39)	D819G	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r1	G	T	3: 64,011,959 (GRCm39)	V607L	probably damaging	Het

Other mutations in Pipox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Pipox	APN	11	77,774,019 (GRCm39)	missense	probably damaging	0.99
IGL02230:Pipox	APN	11	77,772,032 (GRCm39)	missense	probably damaging	1.00
pickled	UTSW	11	77,772,005 (GRCm39)	missense	possibly damaging	0.89
PIT4519001:Pipox	UTSW	11	77,774,001 (GRCm39)	missense	probably damaging	1.00
R0523:Pipox	UTSW	11	77,782,965 (GRCm39)	missense	probably damaging	1.00
R0666:Pipox	UTSW	11	77,774,651 (GRCm39)	missense	probably benign	0.20
R1375:Pipox	UTSW	11	77,772,036 (GRCm39)	nonsense	probably null
R1809:Pipox	UTSW	11	77,772,360 (GRCm39)	missense	probably benign	0.07
R1834:Pipox	UTSW	11	77,772,949 (GRCm39)	missense	probably damaging	1.00
R1897:Pipox	UTSW	11	77,773,568 (GRCm39)	missense	probably damaging	1.00
R2436:Pipox	UTSW	11	77,782,943 (GRCm39)	missense	probably damaging	1.00
R4674:Pipox	UTSW	11	77,784,596 (GRCm39)	missense	probably benign	0.02
R6480:Pipox	UTSW	11	77,773,474 (GRCm39)	missense	probably damaging	1.00
R6586:Pipox	UTSW	11	77,772,005 (GRCm39)	missense	possibly damaging	0.89
R6883:Pipox	UTSW	11	77,774,729 (GRCm39)	missense	probably benign	0.02
R6918:Pipox	UTSW	11	77,772,380 (GRCm39)	missense	probably damaging	0.99
R7223:Pipox	UTSW	11	77,772,012 (GRCm39)	missense	probably damaging	1.00
R8140:Pipox	UTSW	11	77,774,735 (GRCm39)	missense	probably benign	0.00
R8265:Pipox	UTSW	11	77,774,793 (GRCm39)	missense	probably benign
R8725:Pipox	UTSW	11	77,774,804 (GRCm39)	nonsense	probably null
R9049:Pipox	UTSW	11	77,772,380 (GRCm39)	missense	probably damaging	0.99
R9491:Pipox	UTSW	11	77,772,359 (GRCm39)	missense	probably benign	0.03
Z1177:Pipox	UTSW	11	77,772,356 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AAGGAGTTGCATTGCCCCAG -3'
(R):5'- AGGAGTCTAGGTGGCTTTACC -3'

Sequencing Primer
(F):5'- ATTGCCCCAGGACTGTACAG -3'
(R):5'- AAACAGGCAGACTGAGCT -3'

Posted On

2022-02-07