Mutagenetix > Incidental Mutation

Incidental Mutation 'R3888:Acbd6'

312844

Institutional Source

Beutler Lab

Gene Symbol

Acbd6

Ensembl Gene

ENSMUSG00000033701

Gene Name

acyl-Coenzyme A binding domain containing 6

Synonyms

0610010G04Rik, 2610100E10Rik

MMRRC Submission

040800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155433845-155564120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155500643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 201 (D201G)

Ref Sequence

ENSEMBL: ENSMUSP00000049124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035560]

AlphaFold

Q9D061

Predicted Effect

probably damaging
Transcript: ENSMUST00000035560
AA Change: D201G

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

SMART Domains

Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: D201G

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
Pfam:ACBP	43	123	1.5e-26	PFAM
low complexity region	130	148	N/A	INTRINSIC
ANK	157	187	2.43e3	SMART
ANK	191	220	8.65e-5	SMART
ANK	224	253	8.19e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194476

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	A	1: 85,868,273 (GRCm39)		probably null	Het
Adam17	G	A	12: 21,375,588 (GRCm39)	R744C	probably damaging	Het
Adss2	A	G	1: 177,595,335 (GRCm39)	Y402H	probably damaging	Het
Ano3	T	A	2: 110,715,345 (GRCm39)	K31I	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Cmya5	T	G	13: 93,230,164 (GRCm39)	R1641S	probably benign	Het
Cps1	C	A	1: 67,204,659 (GRCm39)	T493K	possibly damaging	Het
Dmxl1	T	A	18: 50,011,326 (GRCm39)	M1161K	probably damaging	Het
Etl4	C	T	2: 20,534,772 (GRCm39)	Q76*	probably null	Het
Fn1	T	C	1: 71,679,465 (GRCm39)	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,765,483 (GRCm39)	H179R	unknown	Het
Frem1	T	C	4: 82,831,844 (GRCm39)	R1991G	probably benign	Het
Gimap7	G	A	6: 48,700,779 (GRCm39)	E122K	probably benign	Het
Hps3	A	G	3: 20,057,387 (GRCm39)		probably null	Het
Kctd2	A	T	11: 115,318,345 (GRCm39)	K209N	probably damaging	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Muc5ac	T	C	7: 141,344,961 (GRCm39)	V144A	possibly damaging	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Ntf3	T	C	6: 126,079,405 (GRCm39)	M21V	probably benign	Het
Or4a71	T	A	2: 89,358,076 (GRCm39)	H226L	possibly damaging	Het
Or5b97	A	T	19: 12,878,497 (GRCm39)	C216S	probably benign	Het
Or6c1	A	T	10: 129,518,088 (GRCm39)	D173E	probably benign	Het
Or6c1	G	A	10: 129,518,087 (GRCm39)	H174Y	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,205,768 (GRCm39)	S207G	probably benign	Het
Robo3	G	A	9: 37,333,477 (GRCm39)	Q723*	probably null	Het
Rreb1	G	T	13: 38,077,941 (GRCm39)	R51L	probably damaging	Het
Slc12a6	T	A	2: 112,097,375 (GRCm39)	L70Q	possibly damaging	Het
Slc15a2	A	G	16: 36,602,666 (GRCm39)	F65S	probably damaging	Het
Slitrk5	T	A	14: 111,917,229 (GRCm39)	C284*	probably null	Het
Smim17	G	T	7: 6,432,279 (GRCm39)	G74C	probably damaging	Het
Snapc4	G	A	2: 26,255,510 (GRCm39)	Q1005*	probably null	Het
Suv39h2	G	A	2: 3,465,845 (GRCm39)	T170I	probably benign	Het
Thrb	A	G	14: 18,033,551 (GRCm38)	K424R	probably damaging	Het
Tm4sf4	C	T	3: 57,345,166 (GRCm39)	Q191*	probably null	Het
Trak1	G	T	9: 121,271,863 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,540,618 (GRCm39)	S25796P	probably damaging	Het
Ugp2	T	C	11: 21,303,366 (GRCm39)	R80G	probably benign	Het
Utp15	C	T	13: 98,395,674 (GRCm39)	V103I	probably benign	Het
Wdr3	A	T	3: 100,061,222 (GRCm39)	S249T	probably benign	Het
Zeb1	T	A	18: 5,748,743 (GRCm39)	D86E	probably damaging	Het

Other mutations in Acbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Cassette	UTSW	1	155,562,827 (GRCm39)	missense	probably benign
walkman	UTSW	1	155,562,706 (GRCm39)	missense	probably damaging	1.00
R1897:Acbd6	UTSW	1	155,434,564 (GRCm39)	missense	probably damaging	0.96
R2190:Acbd6	UTSW	1	155,500,652 (GRCm39)	missense	probably damaging	1.00
R2234:Acbd6	UTSW	1	155,434,454 (GRCm39)	missense	probably damaging	1.00
R2235:Acbd6	UTSW	1	155,434,454 (GRCm39)	missense	probably damaging	1.00
R3730:Acbd6	UTSW	1	155,434,471 (GRCm39)	missense	probably benign	0.24
R3731:Acbd6	UTSW	1	155,434,471 (GRCm39)	missense	probably benign	0.24
R4349:Acbd6	UTSW	1	155,562,827 (GRCm39)	missense	probably benign
R4905:Acbd6	UTSW	1	155,500,669 (GRCm39)	missense	probably benign	0.03
R4983:Acbd6	UTSW	1	155,477,275 (GRCm39)	missense	probably benign	0.00
R5285:Acbd6	UTSW	1	155,434,471 (GRCm39)	missense	probably benign	0.24
R5297:Acbd6	UTSW	1	155,463,204 (GRCm39)	missense	probably benign	0.01
R5955:Acbd6	UTSW	1	155,463,205 (GRCm39)	missense	probably benign	0.01
R7472:Acbd6	UTSW	1	155,463,213 (GRCm39)	nonsense	probably null
R7719:Acbd6	UTSW	1	155,562,758 (GRCm39)	missense	probably damaging	0.99
R7911:Acbd6	UTSW	1	155,562,750 (GRCm39)	missense	probably damaging	1.00
R7960:Acbd6	UTSW	1	155,562,766 (GRCm39)	missense	probably benign	0.02
R8762:Acbd6	UTSW	1	155,562,706 (GRCm39)	missense	probably damaging	1.00
R9542:Acbd6	UTSW	1	155,443,356 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TCAGAAGTAGAGCTCAGGGC -3'
(R):5'- ATAGCAGGGCCTTCAGTGAC -3'

Sequencing Primer
(F):5'- AGGGCTTCCTGCTGCTTGTC -3'
(R):5'- TGTGGCACTGTACACACATG -3'

Posted On

2015-04-30