Mutagenetix > Incidental Mutation

Incidental Mutation 'R6586:Pipox'

524430

Institutional Source

Beutler Lab

Gene Symbol

Pipox

Ensembl Gene

ENSMUSG00000017453

Gene Name

pipecolic acid oxidase

Synonyms

Pso

MMRRC Submission

044710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6586 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77771440-77784698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77772005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000017597 (fasta)

Gene Model

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

AlphaFold

Q9D826

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017597
AA Change: D373G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: D373G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155401

Meta Mutation Damage Score

0.4377

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,182,639 (GRCm39)	F265L	possibly damaging	Het
9930022D16Rik	A	G	11: 109,308,786 (GRCm39)	T51A	unknown	Het
Acaa1a	A	G	9: 119,178,604 (GRCm39)		probably null	Het
Clasp2	T	C	9: 113,642,332 (GRCm39)	S280P	probably damaging	Het
Cnga3	T	C	1: 37,300,359 (GRCm39)	S398P	probably damaging	Het
Cngb3	T	G	4: 19,280,946 (GRCm39)	L5R	probably damaging	Het
Cyp2c65	T	C	19: 39,070,662 (GRCm39)	F282L	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dnm2	T	C	9: 21,416,942 (GRCm39)	F825S	probably benign	Het
Egfem1	T	A	3: 29,716,560 (GRCm39)	C343*	probably null	Het
Fah	T	A	7: 84,242,468 (GRCm39)	D280V	probably benign	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Flg	A	T	3: 93,200,290 (GRCm39)		probably benign	Het
Flnb	A	G	14: 7,929,138 (GRCm38)	R1956G	possibly damaging	Het
Mterf2	A	G	10: 84,955,970 (GRCm39)	F218S	probably damaging	Het
Nlrp1a	A	G	11: 70,996,899 (GRCm39)	V868A	probably benign	Het
Nrip2	T	A	6: 128,381,911 (GRCm39)	C85*	probably null	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or51v14	T	A	7: 103,261,183 (GRCm39)	I126F	possibly damaging	Het
Palm	A	C	10: 79,645,365 (GRCm39)	N111H	probably benign	Het
Plec	C	T	15: 76,059,287 (GRCm39)	G3540D	probably damaging	Het
Psd3	T	C	8: 68,416,197 (GRCm39)	T567A	probably damaging	Het
Psg28	T	C	7: 18,164,469 (GRCm39)	Y81C	probably damaging	Het
Rarres1	A	T	3: 67,398,366 (GRCm39)	N131K	probably damaging	Het
Rbbp8nl	G	A	2: 179,922,752 (GRCm39)	H214Y	probably damaging	Het
Styxl2	T	C	1: 165,928,454 (GRCm39)	E386G	possibly damaging	Het
Tas2r135	A	G	6: 42,382,952 (GRCm39)	T164A	probably benign	Het
Tmco3	G	T	8: 13,370,894 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,771,831 (GRCm39)	M259K	possibly damaging	Het
Tns4	T	C	11: 98,971,093 (GRCm39)	R206G	probably benign	Het
Trim60	G	T	8: 65,453,248 (GRCm39)	L334I	possibly damaging	Het
Ttn	T	C	2: 76,560,754 (GRCm39)	T29216A	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Vmn1r60	T	A	7: 5,547,446 (GRCm39)	N218I	probably benign	Het
Vps25	T	G	11: 101,149,835 (GRCm39)	V125G	probably damaging	Het
Ythdc2	A	G	18: 44,978,855 (GRCm39)	D455G	probably benign	Het
Ythdf2	A	T	4: 131,932,911 (GRCm39)	M83K	probably benign	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
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'- TCGCTGACTTTCTGGGAAGG -3'
(R):5'- TGACAGGTGGCAATTTCTGG -3'

Sequencing Primer
(F):5'- CTGACTTTCTGGGAAGGAGAAATG -3'
(R):5'- CAATTTCTGGCTTTGGGATGAGACC -3'

Posted On

2018-06-22