Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Pyroxd1'

577225

Institutional Source

Beutler Lab

Gene Symbol

Pyroxd1

Ensembl Gene

ENSMUSG00000041671

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 1

Synonyms

MMRRC Submission

045521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142345654-142363257 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142358501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 326 (H326L)

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: H326L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: H326L

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

probably benign
Transcript: ENSMUST00000123912

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

0.0926

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124	T2208A		Het
Ap4s1	T	C	12: 51,738,641	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708	Y18N	probably damaging	Het
Cacna2d3	A	G	14: 29,058,618	S648P	possibly damaging	Het
Camta1	C	T	4: 151,144,291	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658	T76M	unknown	Het
Ermap	G	A	4: 119,188,710	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167	D29G		Het
Ipo8	T	C	6: 148,789,817	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519	S3P	unknown	Het
Mei4	A	G	9: 81,890,239	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959	Y1572N	probably damaging	Het
Rapgef5	A	G	12: 117,755,969	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909		probably null	Het
Trav14-2	A	G	14: 53,641,058	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618	W2157*	probably null	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
IGL02930:Pyroxd1	APN	6	142359052	missense	probably damaging	1.00
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
R8925:Pyroxd1	UTSW	6	142354711	missense	probably damaging	1.00
R8927:Pyroxd1	UTSW	6	142354711	missense	probably damaging	1.00
R8987:Pyroxd1	UTSW	6	142356525	missense
R9555:Pyroxd1	UTSW	6	142354695	missense	possibly damaging	0.65
V1662:Pyroxd1	UTSW	6	142358443	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTTCAGAAAATAAAGTGGCCTTC -3'
(R):5'- GCGGATGTTAACTGCTGGAC -3'

Sequencing Primer
(F):5'- CAGAAAATAAAGTGGCCTTCCTTCTG -3'
(R):5'- ATGTTAACTGCTGGACGCTAAG -3'

Posted On

2019-10-07