Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Pipox'

285671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pipox

Ensembl Gene

ENSMUSG00000017453

Gene Name

pipecolic acid oxidase

Synonyms

Pso

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

77880615-77894096 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77881206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 364 (L364P)

Ref Sequence

ENSEMBL: ENSMUSP00000017597 (fasta)

Gene Model

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

AlphaFold

Q9D826

Predicted Effect

probably damaging
Transcript: ENSMUST00000017597
AA Change: L364P

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

SMART Domains

Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: L364P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Pipox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Pipox	APN	11	77883193	missense	probably damaging	0.99
pickled	UTSW	11	77881179	missense	possibly damaging	0.89
PIT4519001:Pipox	UTSW	11	77883175	missense	probably damaging	1.00
R0523:Pipox	UTSW	11	77892139	missense	probably damaging	1.00
R0666:Pipox	UTSW	11	77883825	missense	probably benign	0.20
R1375:Pipox	UTSW	11	77881210	nonsense	probably null
R1809:Pipox	UTSW	11	77881534	missense	probably benign	0.07
R1834:Pipox	UTSW	11	77882123	missense	probably damaging	1.00
R1897:Pipox	UTSW	11	77882742	missense	probably damaging	1.00
R2436:Pipox	UTSW	11	77892117	missense	probably damaging	1.00
R4674:Pipox	UTSW	11	77893770	missense	probably benign	0.02
R6480:Pipox	UTSW	11	77882648	missense	probably damaging	1.00
R6586:Pipox	UTSW	11	77881179	missense	possibly damaging	0.89
R6883:Pipox	UTSW	11	77883903	missense	probably benign	0.02
R6918:Pipox	UTSW	11	77881554	missense	probably damaging	0.99
R7223:Pipox	UTSW	11	77881186	missense	probably damaging	1.00
R8140:Pipox	UTSW	11	77883909	missense	probably benign	0.00
R8265:Pipox	UTSW	11	77883967	missense	probably benign
R8725:Pipox	UTSW	11	77883978	nonsense	probably null
R9049:Pipox	UTSW	11	77881554	missense	probably damaging	0.99
R9239:Pipox	UTSW	11	77883939	missense	probably benign	0.01
R9491:Pipox	UTSW	11	77881533	missense	probably benign	0.03
Z1177:Pipox	UTSW	11	77881530	missense	possibly damaging	0.55

Posted On

2015-04-16