Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Acbd6'

471085

Institutional Source

Beutler Lab

Gene Symbol

Acbd6

Ensembl Gene

ENSMUSG00000033701

Gene Name

acyl-Coenzyme A binding domain containing 6

Synonyms

0610010G04Rik, 2610100E10Rik

Accession Numbers

Essential gene?

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

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155433845-155564120 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155463205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 135 (A135V)

Ref Sequence

ENSEMBL: ENSMUSP00000095136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035560] [ENSMUST00000097529]

AlphaFold

Q9D061

Predicted Effect

probably benign
Transcript: ENSMUST00000035560

SMART Domains

Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701

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

probably benign
Transcript: ENSMUST00000097529
AA Change: A135V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095136
Gene: ENSMUSG00000033701
AA Change: A135V

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
Pfam:ACBP	42	126	1.7e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194476

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Samd8	A	G	14: 21,843,152 (GRCm39)	H364R	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly 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
R3888:Acbd6	UTSW	1	155,500,643 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAGGTATTGATACAGTGTTAAGCTC -3'
(R):5'- AAGCTAGAGTGGTCCTCCCTTC -3'

Sequencing Primer
(F):5'- ACAGTGTTAAGCTCTTGTTGAAC -3'
(R):5'- ACTCCAGGAATCTCAGGTGCTTG -3'

Posted On

2017-03-31