Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Acbd6'

212024

Institutional Source

Beutler Lab

Gene Symbol

Acbd6

Ensembl Gene

ENSMUSG00000033701

Gene Name

acyl-Coenzyme A binding domain containing 6

Synonyms

0610010G04Rik, 2610100E10Rik

MMRRC Submission

039917-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155558120-155691330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155558818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 61 (S61G)

Ref Sequence

ENSEMBL: ENSMUSP00000095136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035560] [ENSMUST00000080138] [ENSMUST00000097529]

AlphaFold

Q9D061

Predicted Effect

probably damaging
Transcript: ENSMUST00000035560
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: S61G

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 damaging
Transcript: ENSMUST00000080138
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079035
Gene: ENSMUSG00000033701
AA Change: S61G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097529
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095136
Gene: ENSMUSG00000033701
AA Change: S61G

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

Meta Mutation Damage Score

0.2461

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,784,397	N504S	probably benign	Het
Adcy3	C	T	12: 4,173,450		probably benign	Het
Adcyap1r1	A	T	6: 55,479,194	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,129,001	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,502,525	T510K	probably damaging	Het
Apol7e	A	T	15: 77,717,894	M231L	probably benign	Het
Asb1	C	A	1: 91,546,925		probably null	Het
Atf7ip2	C	T	16: 10,211,084	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,738,429	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,196,042	M884L	probably benign	Het
Ccdc93	A	G	1: 121,491,212	I499V	probably benign	Het
Ccl20	A	G	1: 83,117,895	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,045,193	T626A	possibly damaging	Het
Cep250	A	G	2: 155,976,095	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,474,047	L281P	probably damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Crocc	G	A	4: 141,018,736	R1691C	probably damaging	Het
Csf1	C	T	3: 107,748,279	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164	M86R	probably benign	Het
Dbndd2	T	C	2: 164,488,664	F79S	probably damaging	Het
Dkk1	G	T	19: 30,549,278	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,181,762	L619F	probably benign	Het
Eif2b5	T	C	16: 20,507,037	V588A	probably damaging	Het
Elf3	A	T	1: 135,257,137	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,436,610	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,558,203	C188*	probably null	Het
Fbxw8	T	C	5: 118,128,876	Y174C	probably benign	Het
Gnl1	C	A	17: 35,988,692	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992	S292P	probably benign	Het
Gsk3b	G	A	16: 38,217,084		probably null	Het
Hcls1	C	T	16: 36,962,643	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,422,285		probably benign	Het
Hecw1	A	G	13: 14,377,940	S25P	probably damaging	Het
Hells	T	C	19: 38,940,484	V100A	probably benign	Het
Isl1	C	T	13: 116,303,330	E161K	probably benign	Het
Klra9	G	T	6: 130,185,592	N160K	possibly damaging	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Mpc1	G	A	17: 8,296,878	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,292,241	N1377I	probably benign	Het
Myrf	T	C	19: 10,218,232	I607V	probably benign	Het
Olfr123	T	G	17: 37,796,184	S247A	probably benign	Het
Olfr968	A	T	9: 39,772,065	I245K	probably damaging	Het
Pik3c2b	A	G	1: 133,066,916	D206G	possibly damaging	Het
Pipox	A	G	11: 77,882,742	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,560,095	V401D	possibly damaging	Het
Plod1	C	T	4: 147,926,200	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,680,405		probably null	Het
Qars	C	T	9: 108,514,083	Q7*	probably null	Het
Rpap2	T	A	5: 107,633,095	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Rusc2	A	G	4: 43,421,749	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,750,932	M1306K	probably benign	Het
Sesn3	A	C	9: 14,308,645	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511	V319I	probably benign	Het
Slc15a5	G	T	6: 138,079,764	F51L	possibly damaging	Het
Slit2	T	A	5: 48,238,423	C723S	probably damaging	Het
Sncaip	A	G	18: 52,894,790		probably null	Het
Snx2	T	A	18: 53,197,878	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,654	L126*	probably null	Het
Stam	T	C	2: 14,129,026	S195P	probably damaging	Het
Strn	T	C	17: 78,682,842	I82V	probably benign	Het
Synj2	T	A	17: 6,022,137	C202*	probably null	Het
Tecpr2	A	G	12: 110,933,247	D683G	probably benign	Het
Tfec	A	G	6: 16,835,308	V157A	probably damaging	Het
Tff1	T	G	17: 31,164,938	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,452,445	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,471,960	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,733,304	K577E	probably damaging	Het
Vrk1	T	C	12: 106,036,540		probably benign	Het
Wdr20	A	G	12: 110,793,723	T348A	probably benign	Het

Other mutations in Acbd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Cassette	UTSW	1	155687081	missense	probably benign
walkman	UTSW	1	155686960	missense	probably damaging	1.00
R2190:Acbd6	UTSW	1	155624906	missense	probably damaging	1.00
R2234:Acbd6	UTSW	1	155558708	missense	probably damaging	1.00
R2235:Acbd6	UTSW	1	155558708	missense	probably damaging	1.00
R3730:Acbd6	UTSW	1	155558725	missense	probably benign	0.24
R3731:Acbd6	UTSW	1	155558725	missense	probably benign	0.24
R3888:Acbd6	UTSW	1	155624897	missense	probably damaging	1.00
R4349:Acbd6	UTSW	1	155687081	missense	probably benign
R4905:Acbd6	UTSW	1	155624923	missense	probably benign	0.03
R4983:Acbd6	UTSW	1	155601529	missense	probably benign	0.00
R5285:Acbd6	UTSW	1	155558725	missense	probably benign	0.24
R5297:Acbd6	UTSW	1	155587458	missense	probably benign	0.01
R5955:Acbd6	UTSW	1	155587459	missense	probably benign	0.01
R7472:Acbd6	UTSW	1	155587467	nonsense	probably null
R7719:Acbd6	UTSW	1	155687012	missense	probably damaging	0.99
R7911:Acbd6	UTSW	1	155687004	missense	probably damaging	1.00
R7960:Acbd6	UTSW	1	155687020	missense	probably benign	0.02
R8762:Acbd6	UTSW	1	155686960	missense	probably damaging	1.00
R9542:Acbd6	UTSW	1	155567610	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- AGCTAGTGAACATGGCCACAC -3'
(R):5'- ATCAGAGAGATTATTCCATGTCCAG -3'

Sequencing Primer
(F):5'- GTGAACATGGCCACACCGTTC -3'
(R):5'- CCAGAATGATGCTATTCTCCAGGG -3'

Posted On

2014-06-30