Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02831:Pyroxd2'

361450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pyroxd2

Ensembl Gene

ENSMUSG00000060224

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 2

Synonyms

4833409A17Rik, 3830409H07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02831

Quality Score

Status

Chromosome

Chromosomal Location

42714297-42741214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42724342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 307 (T307K)

Ref Sequence

ENSEMBL: ENSMUSP00000075825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076505]

AlphaFold

Q3U4I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076505
AA Change: T307K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: T307K

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	39	97	3.5e-11	PFAM
Pfam:Amino_oxidase	46	423	2.7e-15	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,943,907 (GRCm39)	V1121M	probably damaging	Het
Acrbp	C	A	6: 125,038,212 (GRCm39)	T471N	possibly damaging	Het
Blnk	C	T	19: 40,950,873 (GRCm39)	D93N	probably damaging	Het
Casp7	A	G	19: 56,392,855 (GRCm39)	D3G	probably benign	Het
Coro1c	A	T	5: 113,982,469 (GRCm39)	C456S	probably benign	Het
Dlec1	T	G	9: 118,972,983 (GRCm39)	L1499R	probably damaging	Het
Dnah8	T	C	17: 30,931,250 (GRCm39)	S1422P	probably benign	Het
Exd1	T	C	2: 119,359,235 (GRCm39)	D216G	probably damaging	Het
Fhit	T	C	14: 9,870,080 (GRCm38)	T130A	probably benign	Het
Frem1	A	T	4: 82,874,395 (GRCm39)	M1409K	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Glb1l2	A	G	9: 26,678,746 (GRCm39)	V465A	probably benign	Het
Ints8	T	C	4: 11,245,896 (GRCm39)	Q194R	possibly damaging	Het
Ip6k2	C	T	9: 108,681,733 (GRCm39)		probably benign	Het
Kctd2	T	A	11: 115,321,166 (GRCm39)	*264K	probably null	Het
Krt34	C	A	11: 99,930,973 (GRCm39)		probably benign	Het
Lamc1	A	G	1: 153,122,801 (GRCm39)	S760P	probably benign	Het
Lrp1b	T	C	2: 41,083,603 (GRCm39)	N1702S	probably damaging	Het
Lrrc8e	T	A	8: 4,285,429 (GRCm39)	S551R	probably damaging	Het
Map3k20	T	C	2: 72,202,071 (GRCm39)	V139A	probably damaging	Het
Mrtfa	A	G	15: 80,988,994 (GRCm39)	L9P	probably benign	Het
Napsa	A	G	7: 44,236,184 (GRCm39)	T408A	probably benign	Het
Or2h15	T	C	17: 38,441,403 (GRCm39)	K227E	probably benign	Het
Or2w6	T	C	13: 21,843,074 (GRCm39)	I140V	probably benign	Het
Or5l13	T	C	2: 87,780,020 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,918,944 (GRCm39)	L305P	probably damaging	Het
Pkhd1l1	A	G	15: 44,364,889 (GRCm39)	H676R	probably benign	Het
Pld1	T	A	3: 28,130,574 (GRCm39)	V458E	probably damaging	Het
Ppp5c	A	G	7: 16,742,570 (GRCm39)	L256P	probably damaging	Het
Scart1	G	T	7: 139,808,434 (GRCm39)	V782L	probably benign	Het
Sin3b	A	G	8: 73,471,190 (GRCm39)	E379G	probably damaging	Het
Slc22a23	T	C	13: 34,483,052 (GRCm39)	T276A	possibly damaging	Het
Slc26a3	T	C	12: 31,502,628 (GRCm39)	I283T	probably damaging	Het
Sltm	A	G	9: 70,492,147 (GRCm39)	D712G	probably damaging	Het
Slu7	C	T	11: 43,333,480 (GRCm39)	Q367*	probably null	Het
Srbd1	T	C	17: 86,311,299 (GRCm39)	N706S	probably damaging	Het
Supt16	A	T	14: 52,408,335 (GRCm39)	M870K	possibly damaging	Het
Tnxb	T	C	17: 34,922,545 (GRCm39)	Y2453H	possibly damaging	Het
Tomm40	A	G	7: 19,437,014 (GRCm39)	Y274H	probably damaging	Het
Utp20	A	T	10: 88,651,770 (GRCm39)	D404E	probably benign	Het
Vmn2r23	T	A	6: 123,681,344 (GRCm39)	M84K	probably benign	Het
Wdr70	A	G	15: 7,913,787 (GRCm39)	Y621H	possibly damaging	Het
Wfdc8	C	T	2: 164,447,685 (GRCm39)		probably null	Het

Other mutations in Pyroxd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Pyroxd2	APN	19	42,719,877 (GRCm39)	missense	possibly damaging	0.89
IGL01636:Pyroxd2	APN	19	42,726,771 (GRCm39)	missense	probably benign	0.40
IGL02808:Pyroxd2	APN	19	42,719,781 (GRCm39)	missense	probably benign
IGL03179:Pyroxd2	APN	19	42,736,001 (GRCm39)	missense	possibly damaging	0.89
PIT4486001:Pyroxd2	UTSW	19	42,728,828 (GRCm39)	missense	probably benign	0.00
R0360:Pyroxd2	UTSW	19	42,735,992 (GRCm39)	missense	probably damaging	1.00
R0364:Pyroxd2	UTSW	19	42,735,992 (GRCm39)	missense	probably damaging	1.00
R0567:Pyroxd2	UTSW	19	42,724,364 (GRCm39)	missense	probably benign
R0690:Pyroxd2	UTSW	19	42,716,081 (GRCm39)	splice site	probably benign
R0843:Pyroxd2	UTSW	19	42,735,986 (GRCm39)	missense	probably damaging	1.00
R1649:Pyroxd2	UTSW	19	42,726,573 (GRCm39)	missense	probably damaging	0.99
R2032:Pyroxd2	UTSW	19	42,716,088 (GRCm39)	splice site	probably benign
R2087:Pyroxd2	UTSW	19	42,722,209 (GRCm39)	missense	probably benign	0.00
R3040:Pyroxd2	UTSW	19	42,723,957 (GRCm39)	missense	probably benign
R3898:Pyroxd2	UTSW	19	42,728,831 (GRCm39)	missense	probably damaging	0.99
R4746:Pyroxd2	UTSW	19	42,740,839 (GRCm39)	nonsense	probably null
R5394:Pyroxd2	UTSW	19	42,728,898 (GRCm39)	missense	probably benign
R5634:Pyroxd2	UTSW	19	42,728,924 (GRCm39)	missense	probably benign	0.21
R5977:Pyroxd2	UTSW	19	42,723,911 (GRCm39)	missense	probably damaging	1.00
R6745:Pyroxd2	UTSW	19	42,735,799 (GRCm39)	missense	probably damaging	0.99
R7128:Pyroxd2	UTSW	19	42,719,842 (GRCm39)	missense	probably benign	0.45
R7697:Pyroxd2	UTSW	19	42,735,805 (GRCm39)	missense	probably benign
R7707:Pyroxd2	UTSW	19	42,726,586 (GRCm39)	missense	probably damaging	0.98
R7769:Pyroxd2	UTSW	19	42,736,001 (GRCm39)	missense	probably benign	0.00
R7878:Pyroxd2	UTSW	19	42,731,104 (GRCm39)	critical splice acceptor site	probably null
R8204:Pyroxd2	UTSW	19	42,737,827 (GRCm39)	missense	probably benign	0.18
R9374:Pyroxd2	UTSW	19	42,719,756 (GRCm39)	critical splice donor site	probably null
R9551:Pyroxd2	UTSW	19	42,719,756 (GRCm39)	critical splice donor site	probably null
R9552:Pyroxd2	UTSW	19	42,719,756 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18