Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01720:Pyroxd1'

105086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pyroxd1

Ensembl Gene

ENSMUSG00000041671

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01720

Quality Score

Status

Chromosome

Chromosomal Location

142291381-142307881 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 142296784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852]

AlphaFold

Q3TMV7

Predicted Effect

probably benign
Transcript: ENSMUST00000032370

SMART Domains

Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	2.5e-27	SMART
HELICc	328	409	2.2e-26	SMART
Pfam:RQC	488	592	5.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041852

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	8	234	2.2e-18	PFAM
Pfam:Pyr_redox_2	266	381	4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204971

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Apc2	T	C	10: 80,150,333 (GRCm39)	S1796P	probably benign	Het
Asxl3	A	T	18: 22,658,382 (GRCm39)	I2131F	probably damaging	Het
Cdc42bpa	T	A	1: 179,938,847 (GRCm39)	D833E	probably damaging	Het
Cenpc1	A	G	5: 86,193,284 (GRCm39)	S202P	possibly damaging	Het
Cenpf	T	C	1: 189,414,583 (GRCm39)	E178G	probably benign	Het
Cenpf	T	C	1: 189,383,412 (GRCm39)	Y2636C	probably damaging	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Chkb	C	T	15: 89,312,155 (GRCm39)		probably null	Het
Cldn20	A	G	17: 3,583,375 (GRCm39)	T183A	probably benign	Het
Cpne8	C	T	15: 90,385,703 (GRCm39)	V442I	probably benign	Het
Cx3cl1	T	A	8: 95,504,701 (GRCm39)	M39K	probably damaging	Het
Dgkd	T	A	1: 87,864,487 (GRCm39)	L124Q	probably damaging	Het
Duxf4	A	C	10: 58,072,211 (GRCm39)	M1R	probably null	Het
Fam180a	T	C	6: 35,290,500 (GRCm39)	H161R	probably benign	Het
Galt	C	A	4: 41,757,463 (GRCm39)	R212S	probably damaging	Het
Gja10	T	C	4: 32,601,007 (GRCm39)	D459G	probably benign	Het
Glb1	T	C	9: 114,249,573 (GRCm39)		probably null	Het
Gm5709	A	T	3: 59,513,975 (GRCm39)		noncoding transcript	Het
Igf2r	A	G	17: 12,920,200 (GRCm39)	Y1380H	probably damaging	Het
Jag1	C	T	2: 136,929,023 (GRCm39)	G811D	probably damaging	Het
Lrguk	T	C	6: 34,020,412 (GRCm39)	F52S	probably damaging	Het
Lrrc15	A	T	16: 30,092,138 (GRCm39)	N400K	probably benign	Het
Map3k12	A	G	15: 102,410,621 (GRCm39)		probably benign	Het
Mbnl2	C	T	14: 120,562,682 (GRCm39)	T11I	probably damaging	Het
Mettl22	T	C	16: 8,302,117 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,483,979 (GRCm39)	A497V	probably damaging	Het
Mrpl49	C	A	19: 6,105,187 (GRCm39)	M91I	possibly damaging	Het
Or2ag18	A	T	7: 106,405,416 (GRCm39)	D84E	probably damaging	Het
Or2q1	G	A	6: 42,794,527 (GRCm39)	V41I	probably benign	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Ppp1r13b	T	C	12: 111,824,694 (GRCm39)	T102A	probably benign	Het
Pramel23	T	A	4: 143,423,410 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,210,628 (GRCm39)	D393G	probably damaging	Het
Rad17	A	T	13: 100,759,366 (GRCm39)	C554S	possibly damaging	Het
Rapgef5	T	C	12: 117,577,055 (GRCm39)		probably benign	Het
Setdb2	A	G	14: 59,660,885 (GRCm39)	V86A	possibly damaging	Het
Slc38a2	A	T	15: 96,589,092 (GRCm39)		probably benign	Het
Slc9c1	A	G	16: 45,376,132 (GRCm39)	Y406C	probably damaging	Het
Slit1	T	C	19: 41,622,653 (GRCm39)	D702G	probably benign	Het
Stat3	T	C	11: 100,794,484 (GRCm39)	H275R	possibly damaging	Het
Susd5	T	A	9: 113,893,052 (GRCm39)	N43K	possibly damaging	Het
Ttc3	A	T	16: 94,186,228 (GRCm39)	K124N	probably damaging	Het
Usp36	C	A	11: 118,165,828 (GRCm39)	R165L	probably damaging	Het
Vwf	G	A	6: 125,619,798 (GRCm39)	R1492Q	possibly damaging	Het
Zbed6	A	G	1: 133,585,264 (GRCm39)	V691A	possibly damaging	Het

Other mutations in Pyroxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Pyroxd1	APN	6	142,307,484 (GRCm39)	missense	probably damaging	0.96
IGL02139:Pyroxd1	APN	6	142,300,457 (GRCm39)	missense	probably benign
IGL02930:Pyroxd1	APN	6	142,304,778 (GRCm39)	missense	probably damaging	1.00
R0233:Pyroxd1	UTSW	6	142,300,356 (GRCm39)	missense	possibly damaging	0.77
R0233:Pyroxd1	UTSW	6	142,300,356 (GRCm39)	missense	possibly damaging	0.77
R0329:Pyroxd1	UTSW	6	142,307,702 (GRCm39)	missense	probably benign	0.37
R0505:Pyroxd1	UTSW	6	142,299,288 (GRCm39)	missense	possibly damaging	0.55
R0552:Pyroxd1	UTSW	6	142,291,463 (GRCm39)	missense	probably benign	0.06
R1073:Pyroxd1	UTSW	6	142,294,370 (GRCm39)	critical splice donor site	probably null
R1319:Pyroxd1	UTSW	6	142,304,874 (GRCm39)	missense	probably benign	0.33
R2200:Pyroxd1	UTSW	6	142,304,808 (GRCm39)	missense	probably benign	0.01
R4638:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4639:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4640:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4641:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4642:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4643:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4645:Pyroxd1	UTSW	6	142,300,467 (GRCm39)	nonsense	probably null
R4687:Pyroxd1	UTSW	6	142,307,594 (GRCm39)	missense	probably benign	0.00
R5359:Pyroxd1	UTSW	6	142,307,717 (GRCm39)	missense	probably damaging	1.00
R5688:Pyroxd1	UTSW	6	142,299,266 (GRCm39)	missense	probably damaging	1.00
R6208:Pyroxd1	UTSW	6	142,303,182 (GRCm39)	missense	probably benign	0.00
R6295:Pyroxd1	UTSW	6	142,300,479 (GRCm39)	missense	probably benign	0.00
R7056:Pyroxd1	UTSW	6	142,304,808 (GRCm39)	missense	probably benign	0.01
R7445:Pyroxd1	UTSW	6	142,304,227 (GRCm39)	missense	probably benign	0.03
R8925:Pyroxd1	UTSW	6	142,300,437 (GRCm39)	missense	probably damaging	1.00
R8927:Pyroxd1	UTSW	6	142,300,437 (GRCm39)	missense	probably damaging	1.00
R8987:Pyroxd1	UTSW	6	142,302,251 (GRCm39)	missense
R9555:Pyroxd1	UTSW	6	142,300,421 (GRCm39)	missense	possibly damaging	0.65
V1662:Pyroxd1	UTSW	6	142,304,169 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-01-21