Mutagenetix > Incidental Mutation

Incidental Mutation 'R2436:Pipox'

249596

Institutional Source

Beutler Lab

Gene Symbol

Pipox

Ensembl Gene

ENSMUSG00000017453

Gene Name

pipecolic acid oxidase

Synonyms

Pso

MMRRC Submission

040397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2436 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77771440-77784698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77782943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 86 (L86F)

Ref Sequence

ENSEMBL: ENSMUSP00000017597 (fasta)

Gene Model

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

AlphaFold

Q9D826

Predicted Effect

probably damaging
Transcript: ENSMUST00000017597
AA Change: L86F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: L86F

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,582,308 (GRCm39)	S277P	possibly damaging	Het
Arl6ip4	T	C	5: 124,254,662 (GRCm39)	S52P	probably benign	Het
Barx2	T	C	9: 31,824,383 (GRCm39)	H2R	probably damaging	Het
Calhm3	T	C	19: 47,140,404 (GRCm39)	T230A	probably damaging	Het
Card11	C	T	5: 140,868,117 (GRCm39)	V844M	possibly damaging	Het
Dnah6	C	T	6: 73,126,156 (GRCm39)	R1327Q	probably benign	Het
Dnai4	T	C	4: 102,923,549 (GRCm39)	I427V	probably benign	Het
Ehbp1	C	A	11: 22,039,524 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,921,496 (GRCm39)	I393N	possibly damaging	Het
Foxq1	A	T	13: 31,742,516 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,280,566 (GRCm39)	T646A	probably benign	Het
Homer3	G	A	8: 70,745,706 (GRCm39)	E324K	possibly damaging	Het
Krt80	A	G	15: 101,257,384 (GRCm39)	F183L	probably damaging	Het
Map3k21	A	T	8: 126,668,354 (GRCm39)	K647*	probably null	Het
Mcm3ap	A	G	10: 76,325,891 (GRCm39)	Y1067C	probably damaging	Het
Myh1	G	T	11: 67,104,097 (GRCm39)	Q921H	probably benign	Het
Nme8	A	G	13: 19,862,029 (GRCm39)	F200S	probably damaging	Het
Nploc4	T	C	11: 120,309,143 (GRCm39)	N153S	possibly damaging	Het
Or14c45	T	C	7: 86,176,591 (GRCm39)	F209L	probably damaging	Het
Or2ak6	T	C	11: 58,592,952 (GRCm39)	C142R	probably damaging	Het
Or4a73	A	G	2: 89,421,117 (GRCm39)	V114A	probably benign	Het
Or5k1	C	T	16: 58,617,607 (GRCm39)	V201I	probably benign	Het
Polr3h	G	T	15: 81,801,406 (GRCm39)	L157I	probably benign	Het
Prex2	G	A	1: 11,336,376 (GRCm39)	V1525M	possibly damaging	Het
Rapgef2	A	T	3: 78,996,079 (GRCm39)	D561E	possibly damaging	Het
Sacs	A	T	14: 61,440,354 (GRCm39)	D800V	possibly damaging	Het
Sbsn	A	T	7: 30,451,655 (GRCm39)	L223F	possibly damaging	Het
Slc16a9	TCCCC	TCCCCC	10: 70,091,911 (GRCm39)		probably null	Het
Srrm3	G	T	5: 135,864,030 (GRCm39)	E43*	probably null	Het
Tcaf3	G	A	6: 42,570,663 (GRCm39)	A363V	probably damaging	Het
Tmem138	A	G	19: 10,552,268 (GRCm39)	F78S	probably damaging	Het
Tnfrsf17	G	A	16: 11,137,676 (GRCm39)	D138N	probably damaging	Het
Tubgcp6	C	T	15: 88,986,568 (GRCm39)	V1344I	probably benign	Het
Usp24	T	A	4: 106,266,842 (GRCm39)	L1875*	probably null	Het
Vmn2r109	C	A	17: 20,774,798 (GRCm39)	G186C	probably damaging	Het
Zfp541	A	G	7: 15,810,373 (GRCm39)	N137D	possibly 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
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
R9239:Pipox	UTSW	11	77,774,765 (GRCm39)	missense	probably benign	0.01
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'- GGTCACAGGATCTAACCAGG -3'
(R):5'- AGGGCAGTGACTTCCATTGTC -3'

Sequencing Primer
(F):5'- CAGGCCTGGAACTCAAAGGTAC -3'
(R):5'- GGCAGTGACTTCCATTGTCTTTCTTG -3'

Posted On

2014-11-12