Mutagenetix > Incidental Mutation

Incidental Mutation 'R5556:Decr1'

435374

Institutional Source

Beutler Lab

Gene Symbol

Decr1

Ensembl Gene

ENSMUSG00000028223

Gene Name

2,4-dienoyl CoA reductase 1, mitochondrial

Synonyms

1200012F07Rik, Nadph, Decr

MMRRC Submission

043113-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R5556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15917240-15945377 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15919244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 300 (D300N)

Ref Sequence

ENSEMBL: ENSMUSP00000029877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029877]

AlphaFold

Q9CQ62

Predicted Effect

probably damaging
Transcript: ENSMUST00000029877
AA Change: D300N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029877
Gene: ENSMUSG00000028223
AA Change: D300N

Domain	Start	End	E-Value	Type
Pfam:adh_short	60	253	7.7e-34	PFAM
Pfam:KR	61	182	4.3e-9	PFAM
Pfam:adh_short_C2	66	304	2e-27	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to fasting and cold stresses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,026 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,208,546 (GRCm39)	I240F	possibly damaging	Het
Accs	A	G	2: 93,666,428 (GRCm39)	Y420H	probably damaging	Het
Aco2	T	C	15: 81,773,520 (GRCm39)	Y20H	probably damaging	Het
Adck2	T	C	6: 39,560,869 (GRCm39)	V419A	probably benign	Het
Bahd1	T	A	2: 118,746,751 (GRCm39)	N123K	probably damaging	Het
Cast	A	G	13: 74,844,008 (GRCm39)		probably null	Het
Cd164l2	T	A	4: 132,951,016 (GRCm39)	V157E	probably damaging	Het
Cdk11b	C	T	4: 155,718,604 (GRCm39)	Q185*	probably null	Het
Ces2g	T	C	8: 105,694,074 (GRCm39)	F470S	probably benign	Het
Cherp	C	G	8: 73,221,824 (GRCm39)	Q313H	probably damaging	Het
Chrna4	A	G	2: 180,675,773 (GRCm39)	V110A	possibly damaging	Het
Cndp2	A	G	18: 84,690,249 (GRCm39)	V231A	probably benign	Het
Cst7	A	T	2: 150,412,488 (GRCm39)	H17L	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dgkb	T	G	12: 38,177,363 (GRCm39)	V230G	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Disp3	C	T	4: 148,342,614 (GRCm39)	G612D	probably benign	Het
Dock7	T	C	4: 98,832,972 (GRCm39)	T1962A	probably damaging	Het
Entrep2	A	G	7: 64,505,957 (GRCm39)	F96S	probably damaging	Het
Fibp	T	A	19: 5,514,227 (GRCm39)	V304E	possibly damaging	Het
Flt3	T	A	5: 147,269,807 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,835,087 (GRCm39)	Q233*	probably null	Het
Klhl42	C	A	6: 147,009,610 (GRCm39)	S483Y	probably benign	Het
Map3k19	G	A	1: 127,762,284 (GRCm39)	R276*	probably null	Het
Mecom	A	G	3: 30,292,249 (GRCm39)	S87P	probably damaging	Het
Med13	A	G	11: 86,218,664 (GRCm39)	V416A	probably benign	Het
Mepe	G	A	5: 104,486,078 (GRCm39)	G406D	probably damaging	Het
Met	T	G	6: 17,534,175 (GRCm39)	L673V	probably benign	Het
Mlh3	A	T	12: 85,315,267 (GRCm39)	Y306*	probably null	Het
Nrxn2	C	A	19: 6,540,121 (GRCm39)	A814E	probably damaging	Het
Nsmaf	C	T	4: 6,398,621 (GRCm39)	V828I	probably benign	Het
Or2j3	T	A	17: 38,615,964 (GRCm39)	K129N	possibly damaging	Het
Or9r7	A	T	10: 129,962,728 (GRCm39)	L66H	probably damaging	Het
Panx1	A	G	9: 14,918,929 (GRCm39)	I310T	possibly damaging	Het
Pcare	T	C	17: 72,059,420 (GRCm39)	K86E	possibly damaging	Het
Pcdhb6	T	A	18: 37,467,442 (GRCm39)	L121Q	probably damaging	Het
Plekha7	G	A	7: 115,763,384 (GRCm39)	T406I	probably benign	Het
Prtg	T	C	9: 72,758,986 (GRCm39)	S447P	probably damaging	Het
Ptprr	A	G	10: 116,087,054 (GRCm39)	Y267C	probably damaging	Het
Rbpjl	A	G	2: 164,249,982 (GRCm39)	T134A	probably benign	Het
Relch	C	A	1: 105,620,892 (GRCm39)	Q456K	probably benign	Het
Rpe	C	A	1: 66,745,625 (GRCm39)	T55N	probably damaging	Het
Scn1a	T	C	2: 66,155,141 (GRCm39)	D606G	probably benign	Het
Setd5	T	A	6: 113,124,463 (GRCm39)	N1105K	probably benign	Het
Sh3d21	T	C	4: 126,056,029 (GRCm39)	N126D	possibly damaging	Het
Shank1	A	G	7: 43,993,739 (GRCm39)		probably benign	Het
Srgap3	T	A	6: 112,716,039 (GRCm39)	D627V	probably damaging	Het
Tacc2	T	A	7: 130,276,336 (GRCm39)	S1796T	probably damaging	Het
Tmco3	G	A	8: 13,344,870 (GRCm39)	V217I	probably damaging	Het
Trgc4	A	T	13: 19,536,477 (GRCm39)	R178S	unknown	Het
Tspan10	A	T	11: 120,335,541 (GRCm39)	Y217F	possibly damaging	Het
Usp3	G	A	9: 66,451,303 (GRCm39)	T153M	possibly damaging	Het
Xdh	G	T	17: 74,204,759 (GRCm39)	T1067K	probably benign	Het
Zfp334	T	C	2: 165,222,504 (GRCm39)	D513G	probably benign	Het

Other mutations in Decr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Decr1	APN	4	15,933,056 (GRCm39)	missense	probably benign	0.23
IGL02736:Decr1	APN	4	15,930,952 (GRCm39)	missense	probably benign	0.01
IGL03141:Decr1	APN	4	15,932,902 (GRCm39)	missense	probably damaging	1.00
I1329:Decr1	UTSW	4	15,930,976 (GRCm39)	nonsense	probably null
R0472:Decr1	UTSW	4	15,919,849 (GRCm39)	missense	probably damaging	1.00
R1295:Decr1	UTSW	4	15,919,207 (GRCm39)	missense	possibly damaging	0.93
R1898:Decr1	UTSW	4	15,929,801 (GRCm39)	missense	probably damaging	1.00
R1955:Decr1	UTSW	4	15,924,256 (GRCm39)	missense	probably benign	0.09
R3160:Decr1	UTSW	4	15,930,972 (GRCm39)	missense	probably damaging	0.99
R3162:Decr1	UTSW	4	15,930,972 (GRCm39)	missense	probably damaging	0.99
R3162:Decr1	UTSW	4	15,930,972 (GRCm39)	missense	probably damaging	0.99
R4545:Decr1	UTSW	4	15,930,979 (GRCm39)	missense	probably damaging	1.00
R4962:Decr1	UTSW	4	15,930,976 (GRCm39)	nonsense	probably null
R5188:Decr1	UTSW	4	15,924,270 (GRCm39)	missense	probably damaging	1.00
R5190:Decr1	UTSW	4	15,924,270 (GRCm39)	missense	probably damaging	1.00
R5215:Decr1	UTSW	4	15,929,795 (GRCm39)	missense	probably damaging	1.00
R6164:Decr1	UTSW	4	15,924,347 (GRCm39)	missense	probably benign	0.32
R6253:Decr1	UTSW	4	15,931,179 (GRCm39)	missense	probably benign	0.00
R6313:Decr1	UTSW	4	15,924,261 (GRCm39)	missense	probably benign	0.00
R6830:Decr1	UTSW	4	15,924,355 (GRCm39)	critical splice acceptor site	probably null
R6998:Decr1	UTSW	4	15,930,960 (GRCm39)	missense	probably damaging	1.00
R7064:Decr1	UTSW	4	15,945,392 (GRCm39)
R8052:Decr1	UTSW	4	15,933,019 (GRCm39)	missense	probably benign	0.00
R8698:Decr1	UTSW	4	15,922,483 (GRCm39)	critical splice donor site	probably null
R8806:Decr1	UTSW	4	15,945,351 (GRCm39)	start codon destroyed	probably benign	0.01
R9217:Decr1	UTSW	4	15,930,969 (GRCm39)	missense	probably damaging	1.00
X0026:Decr1	UTSW	4	15,919,846 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAGCCCTTCGATTATATCCC -3'
(R):5'- TGTTGGAAAAGAGCATTCTAAGCAG -3'

Sequencing Primer
(F):5'- CACTCCTCCTTGGTGACCTGATG -3'
(R):5'- ACTCACTTTGTAGACCAGGCTGG -3'

Posted On

2016-10-24