Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Dcxr'

735175

Institutional Source

Beutler Lab

Gene Symbol

Dcxr

Ensembl Gene

ENSMUSG00000039450

Gene Name

dicarbonyl L-xylulose reductase

Synonyms

1810027P18Rik, 0610038K04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120616225-120618107 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 120618084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148] [ENSMUST00000142229]

AlphaFold

Q91X52

Predicted Effect

probably benign
Transcript: ENSMUST00000018156

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026144

SMART Domains

Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	195	8.9e-51	PFAM
Pfam:KR	9	175	7.1e-9	PFAM
Pfam:Epimerase	10	227	2.3e-7	PFAM
Pfam:adh_short_C2	14	242	6.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026148

SMART Domains

Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150

Domain	Start	End	E-Value	Type
Pfam:KR	9	178	8.5e-8	PFAM
Pfam:adh_short	9	195	4.6e-55	PFAM
Pfam:adh_short_C2	14	242	9.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106148

SMART Domains

Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	151	2.1e-22	PFAM
Pfam:KR	9	151	4.7e-7	PFAM
Pfam:NAD_binding_10	11	182	3.9e-9	PFAM
Pfam:adh_short_C2	14	150	2.2e-8	PFAM
Pfam:adh_short_C2	157	234	4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142229

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154565

SMART Domains

Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	45	6.2e-10	PFAM
Pfam:adh_short_C2	33	154	9.7e-18	PFAM
Pfam:adh_short	41	123	2.2e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,119,283 (GRCm39)	I1009N	possibly damaging	Het
Abtb3	C	A	10: 85,224,079 (GRCm39)	A296E	unknown	Het
Adcy8	T	A	15: 64,571,095 (GRCm39)	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,581,433 (GRCm39)	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,588 (GRCm39)	N277K	probably damaging	Het
Ank2	A	T	3: 126,740,149 (GRCm39)	S1912T	unknown	Het
Ank3	T	A	10: 69,733,957 (GRCm39)	N740K	unknown	Het
Atp13a3	A	C	16: 30,159,051 (GRCm39)	I800S	probably benign	Het
AU041133	T	A	10: 81,986,679 (GRCm39)	C111S	probably damaging	Het
Azi2	T	A	9: 117,884,924 (GRCm39)	I211N	probably benign	Het
Camk2b	T	C	11: 5,922,408 (GRCm39)	N480S	probably damaging	Het
Card6	A	G	15: 5,128,702 (GRCm39)	V898A	probably benign	Het
Copb2	T	A	9: 98,461,081 (GRCm39)	M381K	probably damaging	Het
Cplx3	T	C	9: 57,523,060 (GRCm39)	D133G	probably damaging	Het
Crisp1	A	T	17: 40,616,071 (GRCm39)	M102K	probably damaging	Het
Dennd5a	C	A	7: 109,500,374 (GRCm39)	R917L	probably benign	Het
Egflam	T	A	15: 7,279,525 (GRCm39)	T494S	probably benign	Het
Fkbpl	T	A	17: 34,864,691 (GRCm39)	M153K	probably benign	Het
Helz2	A	T	2: 180,882,616 (GRCm39)	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,477,303 (GRCm39)	T194A	probably benign	Het
Lrrc27	T	C	7: 138,807,913 (GRCm39)	M340T	probably benign	Het
Lum	T	A	10: 97,404,157 (GRCm39)	S17R	probably benign	Het
Malrd1	A	G	2: 15,847,405 (GRCm39)	K1182E	unknown	Het
Map3k2	A	T	18: 32,333,069 (GRCm39)	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,415,480 (GRCm39)	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,793,876 (GRCm39)	V387L	probably benign	Het
Nr1h4	T	C	10: 89,290,618 (GRCm39)	D474G	probably benign	Het
Nup205	T	C	6: 35,163,468 (GRCm39)	I144T	possibly damaging	Het
Or10ag57	G	T	2: 87,218,508 (GRCm39)	C153F	probably damaging	Het
Or1e17	C	A	11: 73,831,986 (GRCm39)	L305I	probably benign	Het
Or2a56	A	T	6: 42,933,091 (GRCm39)	I220F	probably damaging	Het
Or4f15	G	A	2: 111,814,194 (GRCm39)	S75L	possibly damaging	Het
Or4n4	G	A	14: 50,519,701 (GRCm39)	T3I	probably benign	Het
Or51f1	T	C	7: 102,506,093 (GRCm39)	Y132C	probably benign	Het
Pkn3	C	T	2: 29,973,290 (GRCm39)	R371*	probably null	Het
Plin2	A	T	4: 86,586,742 (GRCm39)	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 146,917,769 (GRCm39)	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,008,910 (GRCm39)	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,267,860 (GRCm39)	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,117,386 (GRCm39)	V316L	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spata31d1d	T	C	13: 59,874,637 (GRCm39)	H966R	possibly damaging	Het
Speg	C	A	1: 75,399,358 (GRCm39)	D2268E	probably benign	Het
Srp54c	A	G	12: 55,296,811 (GRCm39)	I170V	probably benign	Het
Syde2	A	G	3: 145,704,364 (GRCm39)	R439G	probably benign	Het
Tcof1	T	C	18: 60,949,558 (GRCm39)	K1155R	unknown	Het
Tmem184c	T	C	8: 78,323,087 (GRCm39)	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,947,669 (GRCm39)	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,625,303 (GRCm39)	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007 (GRCm39)	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,150,404 (GRCm39)	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,620,399 (GRCm39)	V711E	probably damaging	Het
Vps16	T	C	2: 130,282,405 (GRCm39)	F413L	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Wasf1	T	C	10: 40,812,693 (GRCm39)	I494T	unknown	Het
Wdr36	A	G	18: 32,985,700 (GRCm39)	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,554,411 (GRCm39)	C134*	probably null	Het

Other mutations in Dcxr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Dcxr	APN	11	120,616,993 (GRCm39)	missense	possibly damaging	0.75
IGL01516:Dcxr	APN	11	120,616,584 (GRCm39)	splice site	probably null
IGL02151:Dcxr	APN	11	120,616,809 (GRCm39)	missense	probably benign	0.00
IGL03264:Dcxr	APN	11	120,617,298 (GRCm39)	missense	probably damaging	1.00
R0890:Dcxr	UTSW	11	120,617,297 (GRCm39)	missense	probably damaging	1.00
R1325:Dcxr	UTSW	11	120,617,381 (GRCm39)	splice site	probably null
R1808:Dcxr	UTSW	11	120,616,438 (GRCm39)	splice site	probably null
R2099:Dcxr	UTSW	11	120,616,403 (GRCm39)	missense	probably damaging	1.00
R2102:Dcxr	UTSW	11	120,617,133 (GRCm39)	missense	probably benign	0.08
R4602:Dcxr	UTSW	11	120,617,130 (GRCm39)	missense	possibly damaging	0.49
R4772:Dcxr	UTSW	11	120,616,923 (GRCm39)	missense	probably benign	0.00
R5028:Dcxr	UTSW	11	120,617,273 (GRCm39)	missense	probably damaging	0.97
R5219:Dcxr	UTSW	11	120,616,314 (GRCm39)	unclassified	probably benign
R5336:Dcxr	UTSW	11	120,618,002 (GRCm39)	critical splice donor site	probably null
R5518:Dcxr	UTSW	11	120,617,025 (GRCm39)	unclassified	probably benign
R6613:Dcxr	UTSW	11	120,617,832 (GRCm39)	missense	probably benign	0.00
R6833:Dcxr	UTSW	11	120,616,917 (GRCm39)	missense	probably damaging	1.00
R7042:Dcxr	UTSW	11	120,617,841 (GRCm39)	missense	possibly damaging	0.66
R7531:Dcxr	UTSW	11	120,617,832 (GRCm39)	missense	probably benign	0.00
R7633:Dcxr	UTSW	11	120,617,279 (GRCm39)	missense	probably benign	0.00
R7710:Dcxr	UTSW	11	120,617,908 (GRCm39)	missense	probably benign	0.08
R9128:Dcxr	UTSW	11	120,617,372 (GRCm39)	missense
Z1176:Dcxr	UTSW	11	120,618,034 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCATGAAGAGCACACTGC -3'
(R):5'- AGAAGCTGCCCCTTGGTTAG -3'

Sequencing Primer
(F):5'- TCACCTCTGGACACAGTGC -3'
(R):5'- CTTGGTTAGGACAGCCTTGCC -3'

Posted On

2022-11-14