Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:Dcxr'

589777

Institutional Source

Beutler Lab

Gene Symbol

Dcxr

Ensembl Gene

ENSMUSG00000039450

Gene Name

dicarbonyl L-xylulose reductase

Synonyms

1810027P18Rik, 0610038K04Rik

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7633 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120616225-120618107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120617279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 88 (L88R)

Ref Sequence

ENSEMBL: ENSMUSP00000026144 (fasta)

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
AA Change: L88R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: L88R

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
AA Change: L88R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: L88R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	possibly damaging	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
R7710:Dcxr	UTSW	11	120,617,908 (GRCm39)	missense	probably benign	0.08
R9128:Dcxr	UTSW	11	120,617,372 (GRCm39)	missense
R9800:Dcxr	UTSW	11	120,618,084 (GRCm39)	unclassified	probably benign
Z1176:Dcxr	UTSW	11	120,618,034 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGATGACAGCCCGAAGATTCAC -3'
(R):5'- AGGTCCAGTTTTCCCAGACTG -3'

Sequencing Primer
(F):5'- GCCCGAAGATTCACATTGAAGGATC -3'
(R):5'- TTCTGCTGGAAGAGGCAAAC -3'

Posted On

2019-10-24