Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02930:Pyroxd1'

364065

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

142345654-142363257 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142359052 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 335 (D335V)

Ref Sequence

ENSEMBL: ENSMUSP00000036394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852] [ENSMUST00000100832] [ENSMUST00000111803]

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 damaging
Transcript: ENSMUST00000041852
AA Change: D335V

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

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: D335V

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

probably benign
Transcript: ENSMUST00000100832

SMART Domains

Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	6e-25	SMART
HELICc	328	409	5.51e-24	SMART
Pfam:RQC	488	592	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111803

SMART Domains

Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243

Domain	Start	End	E-Value	Type
coiled coil region	6	51	N/A	INTRINSIC
DEXDc	88	291	6e-25	SMART
HELICc	328	409	5.51e-24	SMART
Pfam:RecQ_Zn_bind	420	479	2.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123289

Predicted Effect

probably benign
Transcript: ENSMUST00000123912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138578

Predicted Effect

probably benign
Transcript: ENSMUST00000141504

SMART Domains

Protein: ENSMUSP00000119452
Gene: ENSMUSG00000030243

Domain	Start	End	E-Value	Type
Pfam:RecQ_Zn_bind	10	69	7.1e-16	PFAM
Pfam:RQC	73	187	2.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154870

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,226	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,434,099	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,433,982	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,550,325	I478T	possibly damaging	Het
Cabs1	A	G	5: 87,979,886	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,825,494	E475G	probably damaging	Het
Cmtm2b	A	C	8: 104,329,770	M104L	probably benign	Het
Cops2	T	C	2: 125,832,189		probably benign	Het
Dnajc4	C	A	19: 6,989,433	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,483,240	N267D	probably damaging	Het
Elobl	T	G	11: 88,965,186	D17A	possibly damaging	Het
Erich6	G	A	3: 58,622,354		probably benign	Het
Flna	G	A	X: 74,223,900	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,310,990		probably benign	Het
Gpc1	G	T	1: 92,857,299	E355*	probably null	Het
Islr	C	T	9: 58,158,200		probably benign	Het
Mex3a	A	T	3: 88,536,225	I203L	probably benign	Het
Olfr482	A	T	7: 108,095,414	I52N	probably damaging	Het
Olfr794	T	C	10: 129,571,315	I220T	probably damaging	Het
Olfr938	G	T	9: 39,078,012	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,373,474	S195G	probably benign	Het
Rps6kl1	T	C	12: 85,149,774	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,123,217	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,417,161	T382A	possibly damaging	Het
Tbx21	A	G	11: 97,100,039	I271T	probably damaging	Het
Timeless	T	C	10: 128,247,191	V632A	probably benign	Het
Tle3	A	G	9: 61,394,699	N67S	possibly damaging	Het
Tln2	G	A	9: 67,393,662	R95*	probably null	Het
Trim24	A	G	6: 37,951,445		probably benign	Het
Uggt1	A	T	1: 36,157,456	D1253E	probably benign	Het
Vmn1r8	A	G	6: 57,036,594	K210R	probably benign	Het

Other mutations in Pyroxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Pyroxd1	APN	6	142361758	missense	probably damaging	0.96
IGL01720:Pyroxd1	APN	6	142351058	splice site	probably benign
IGL02139:Pyroxd1	APN	6	142354731	missense	probably benign
R0233:Pyroxd1	UTSW	6	142354630	missense	possibly damaging	0.77
R0233:Pyroxd1	UTSW	6	142354630	missense	possibly damaging	0.77
R0329:Pyroxd1	UTSW	6	142361976	missense	probably benign	0.37
R0505:Pyroxd1	UTSW	6	142353562	missense	possibly damaging	0.55
R0552:Pyroxd1	UTSW	6	142345737	missense	probably benign	0.06
R1073:Pyroxd1	UTSW	6	142348644	critical splice donor site	probably null
R1319:Pyroxd1	UTSW	6	142359148	missense	probably benign	0.33
R2200:Pyroxd1	UTSW	6	142359082	missense	probably benign	0.01
R4638:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4639:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4640:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4641:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4642:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4643:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4645:Pyroxd1	UTSW	6	142354741	nonsense	probably null
R4687:Pyroxd1	UTSW	6	142361868	missense	probably benign	0.00
R5359:Pyroxd1	UTSW	6	142361991	missense	probably damaging	1.00
R5688:Pyroxd1	UTSW	6	142353540	missense	probably damaging	1.00
R6208:Pyroxd1	UTSW	6	142357456	missense	probably benign	0.00
R6295:Pyroxd1	UTSW	6	142354753	missense	probably benign	0.00
R7056:Pyroxd1	UTSW	6	142359082	missense	probably benign	0.01
R7445:Pyroxd1	UTSW	6	142358501	missense	probably benign	0.03
V1662:Pyroxd1	UTSW	6	142358443	missense	probably damaging	0.98

Posted On

2015-12-18