Mutagenetix > Incidental Mutation

Incidental Mutation 'R6295:Pyroxd1'

508704

Institutional Source

Beutler Lab

Gene Symbol

Pyroxd1

Ensembl Gene

ENSMUSG00000041671

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 1

Synonyms

MMRRC Submission

044463-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142291381-142307881 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142300479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 203 (I203T)

Ref Sequence

ENSEMBL: ENSMUSP00000036394 (fasta)

Gene Model

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

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: I203T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: I203T

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

noncoding transcript
Transcript: ENSMUST00000123289

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,838,379 (GRCm39)	V1061G	probably damaging	Het
Acap1	A	G	11: 69,781,413 (GRCm39)		probably null	Het
Apbb1	A	G	7: 105,215,902 (GRCm39)	F112L	probably benign	Het
Atg9a	A	G	1: 75,161,702 (GRCm39)	S615P	probably benign	Het
Atp8a2	G	A	14: 60,249,848 (GRCm39)	R548*	probably null	Het
Bbof1	A	T	12: 84,457,942 (GRCm39)	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,404,370 (GRCm39)	V186D	probably benign	Het
Bmp1	T	G	14: 70,728,823 (GRCm39)	Y583S	possibly damaging	Het
Boc	A	C	16: 44,312,711 (GRCm39)	S586R	probably benign	Het
Btbd9	A	T	17: 30,518,710 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,317,919 (GRCm39)	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,088,376 (GRCm39)	H149R	probably damaging	Het
Cops5	T	C	1: 10,100,920 (GRCm39)		probably benign	Het
Doc2b	C	T	11: 75,671,093 (GRCm39)	R209Q	probably damaging	Het
Doc2b	T	C	11: 75,686,451 (GRCm39)	Y90C	probably benign	Het
Ep400	A	G	5: 110,901,675 (GRCm39)	F481L	probably benign	Het
Fat4	T	A	3: 39,061,229 (GRCm39)		probably null	Het
Fbxw16	T	A	9: 109,277,837 (GRCm39)		probably benign	Het
Fbxw27	T	C	9: 109,601,154 (GRCm39)	E17G	possibly damaging	Het
Gm29735	G	A	7: 141,710,367 (GRCm39)	P162S	unknown	Het
Gypa	T	G	8: 81,222,969 (GRCm39)	S24R	unknown	Het
Hdhd5	T	C	6: 120,495,485 (GRCm39)	N153D	probably benign	Het
Ibsp	C	A	5: 104,449,987 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,988,972 (GRCm39)	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,388,459 (GRCm39)	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,765,913 (GRCm39)	H558R	probably benign	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,458,978 (GRCm39)	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,857,475 (GRCm39)	R251C	probably damaging	Het
Numa1	G	A	7: 101,649,974 (GRCm39)	R1235H	probably benign	Het
Opn1sw	T	A	6: 29,379,413 (GRCm39)	Y197F	possibly damaging	Het
Or10a3m	T	C	7: 108,312,845 (GRCm39)	V95A	probably damaging	Het
Pcca	A	T	14: 122,896,187 (GRCm39)	I268F	probably benign	Het
Per2	A	T	1: 91,377,594 (GRCm39)	D76E	unknown	Het
Pfas	T	C	11: 68,888,825 (GRCm39)	N374S	probably benign	Het
Pomk	C	A	8: 26,472,955 (GRCm39)	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,540,926 (GRCm39)	E194G	probably benign	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Rgs22	T	C	15: 36,087,520 (GRCm39)	N466S	probably benign	Het
Rpl3l	G	A	17: 24,952,966 (GRCm39)	V309I	probably benign	Het
Rtkn2	C	T	10: 67,815,529 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,318,253 (GRCm39)	A1613T	probably damaging	Het
Sis	T	A	3: 72,874,103 (GRCm39)	T33S	probably damaging	Het
Slc22a4	C	A	11: 53,898,634 (GRCm39)	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,684,621 (GRCm39)	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,559,831 (GRCm39)	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,687,572 (GRCm39)	L1144M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,659,533 (GRCm39)	V249A	probably benign	Het
Wdr7	T	A	18: 63,888,182 (GRCm39)	C552S	probably 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
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
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

Predicted Primers

Posted On

2018-04-02