Mutagenetix > Incidental Mutation

Incidental Mutation 'R7056:Pyroxd1'

547919

Institutional Source

Beutler Lab

Gene Symbol

Pyroxd1

Ensembl Gene

ENSMUSG00000041671

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 1

Synonyms

MMRRC Submission

045153-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142291381-142307881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142304808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 345 (R345L)

Ref Sequence

ENSEMBL: ENSMUSP00000036394 (fasta)

Gene Model

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

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
AA Change: R345L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: R345L

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: ENSMUST00000154870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153912

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	T	A	9: 95,744,916 (GRCm39)	S78T	probably damaging	Het
B2m	T	C	2: 121,981,465 (GRCm39)	L60P	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cep350	A	C	1: 155,724,373 (GRCm39)	I3075S	probably damaging	Het
Cep97	A	G	16: 55,725,935 (GRCm39)	S651P	probably damaging	Het
Chrna5	C	T	9: 54,888,985 (GRCm39)		probably benign	Het
Cog5	T	C	12: 31,715,468 (GRCm39)	V80A	possibly damaging	Het
Col9a2	G	A	4: 120,906,913 (GRCm39)		probably null	Het
Cop1	C	T	1: 159,077,647 (GRCm39)	L161F	probably damaging	Het
Cyp4f17	A	T	17: 32,746,846 (GRCm39)	M383L	possibly damaging	Het
Dennd4a	A	G	9: 64,814,205 (GRCm39)	D1474G	possibly damaging	Het
Dgkb	A	C	12: 38,150,492 (GRCm39)	S100R	probably benign	Het
Dnah17	A	G	11: 118,016,212 (GRCm39)	V309A	probably benign	Het
Dner	C	A	1: 84,558,457 (GRCm39)	R169L	possibly damaging	Het
Dus1l	T	C	11: 120,682,120 (GRCm39)	E362G	probably benign	Het
Eed	A	T	7: 89,619,564 (GRCm39)	S168T	possibly damaging	Het
Eif3a	T	A	19: 60,751,500 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,205,450 (GRCm39)	S472G	probably benign	Het
Fbn2	T	A	18: 58,209,798 (GRCm39)	T1028S	probably benign	Het
Fbxw16	A	G	9: 109,265,352 (GRCm39)	V393A	possibly damaging	Het
Fig4	A	T	10: 41,096,928 (GRCm39)	L838Q	probably benign	Het
Gm13941	T	G	2: 110,927,147 (GRCm39)	S137R	unknown	Het
Gm9938	T	G	19: 23,701,981 (GRCm39)		probably benign	Het
Igsf10	T	G	3: 59,238,501 (GRCm39)	D560A	probably damaging	Het
Lrrk2	T	A	15: 91,659,198 (GRCm39)	L1870*	probably null	Het
Mep1b	T	A	18: 21,224,247 (GRCm39)	Y347N	probably damaging	Het
Mepce	T	C	5: 137,780,968 (GRCm39)	N613D	probably damaging	Het
Mgat3	T	G	15: 80,096,097 (GRCm39)	L308R	probably damaging	Het
Morc2a	A	G	11: 3,625,925 (GRCm39)	Y175C	probably damaging	Het
Necab2	A	G	8: 120,178,878 (GRCm39)	N98S	probably benign	Het
Net1	T	C	13: 3,934,845 (GRCm39)	M394V	probably benign	Het
Nfat5	G	A	8: 108,094,738 (GRCm39)	G993D	probably damaging	Het
Obscn	C	A	11: 58,887,122 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,465,904 (GRCm39)	H34R	probably damaging	Het
Or2ab1	A	G	11: 58,489,044 (GRCm39)	Y274C	probably damaging	Het
Or4f60	T	C	2: 111,902,662 (GRCm39)	N89D	probably benign	Het
Pmm2	T	A	16: 8,460,628 (GRCm39)	F27L	probably damaging	Het
Ptpdc1	C	A	13: 48,740,466 (GRCm39)	V261F	possibly damaging	Het
Radil	A	T	5: 142,480,109 (GRCm39)	C670*	probably null	Het
Rasgrf2	C	T	13: 92,167,203 (GRCm39)	S290N	probably damaging	Het
Rbm33	T	C	5: 28,599,001 (GRCm39)		probably benign	Het
Rnf111	A	T	9: 70,360,957 (GRCm39)	S501R	possibly damaging	Het
Sel1l2	T	A	2: 140,087,334 (GRCm39)	I446F	probably benign	Het
Sh3pxd2b	T	C	11: 32,372,737 (GRCm39)	S635P	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Smg1	T	C	7: 117,745,623 (GRCm39)		probably benign	Het
Sorcs2	C	A	5: 36,225,474 (GRCm39)	D132Y	probably damaging	Het
Sox18	T	C	2: 181,313,280 (GRCm39)	D12G	probably damaging	Het
Srsf4	G	T	4: 131,628,004 (GRCm39)		probably benign	Het
Susd4	C	A	1: 182,660,721 (GRCm39)	T81N	probably benign	Het
Tmem256	G	T	11: 69,729,416 (GRCm39)		probably benign	Het
Tor4a	T	C	2: 25,084,853 (GRCm39)	H350R	probably benign	Het
Ugt2a3	T	A	5: 87,484,953 (GRCm39)	S24C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r77	C	T	7: 86,451,023 (GRCm39)	T303I	probably benign	Het
Wdr70	T	A	15: 7,913,877 (GRCm39)	I591F	possibly damaging	Het
Wdr93	T	C	7: 79,399,088 (GRCm39)	I74T	probably damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm39)	C1087S	probably damaging	Het
Zfp592	T	A	7: 80,673,067 (GRCm39)	D10E	probably damaging	Het
Zfp69	A	G	4: 120,788,295 (GRCm39)	V340A	probably benign	Het
Zswim2	C	T	2: 83,751,092 (GRCm39)		probably null	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
IGL01720:Pyroxd1	APN	6	142,296,784 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCAGTAGGAGTCTGGCC -3'
(R):5'- AAATTGGCTCCAGTGGCTTC -3'

Sequencing Primer
(F):5'- TAGGAGTCTGGCCAGGGG -3'
(R):5'- GGCTCCAGTGGCTTCAATTTAAAG -3'

Posted On

2019-05-13