Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Abca6'

519564

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 6

Synonyms

6330565N06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110241581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 296 (G296D)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044003]

AlphaFold

Q8K441

Predicted Effect

probably damaging
Transcript: ENSMUST00000044003
AA Change: G296D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: G296D

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.4e-42	PFAM
low complexity region	484	495	N/A	INTRINSIC
AAA	506	691	1.13e-6	SMART
transmembrane domain	854	876	N/A	INTRINSIC
transmembrane domain	971	990	N/A	INTRINSIC
transmembrane domain	1005	1027	N/A	INTRINSIC
Blast:AAA	1041	1176	4e-21	BLAST
transmembrane domain	1191	1213	N/A	INTRINSIC
low complexity region	1243	1254	N/A	INTRINSIC
AAA	1312	1505	2.43e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150988

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	T	A	9: 35,844,055	K3*	probably null	Het
A430078G23Rik	A	T	8: 3,388,753	Y370F	probably benign	Het
Abca1	T	C	4: 53,042,376	R1899G	probably damaging	Het
Abcb5	A	T	12: 118,890,549		probably null	Het
Adam28	T	G	14: 68,633,208	T339P	probably damaging	Het
Adcy10	C	G	1: 165,518,374	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,252,914		probably null	Het
Alms1	T	A	6: 85,696,657	I3078N	probably damaging	Het
Amtn	A	T	5: 88,380,280	N71Y	probably damaging	Het
Arid4a	T	C	12: 71,075,088	S748P	probably benign	Het
Atp2b1	C	A	10: 99,016,980	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,949	D123G	probably benign	Het
Capn15	A	G	17: 25,965,436	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,739,412	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 128,832,610	V1174M	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Ceacam3	T	C	7: 17,161,938	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,566,836	D370N	possibly damaging	Het
Diexf	G	T	1: 193,128,376	D106E	probably benign	Het
Dlg2	C	A	7: 92,444,508		probably null	Het
Dll4	A	T	2: 119,333,795		probably null	Het
Eif5b	T	C	1: 38,019,027	S137P	probably benign	Het
Epn2	A	T	11: 61,533,641	M250K	probably damaging	Het
Fat2	T	A	11: 55,270,457	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,556,814	S341F	probably benign	Het
Gm15922	T	A	7: 3,738,931	Y150F	probably benign	Het
Gm5141	A	T	13: 62,774,783	C191S	probably damaging	Het
Gm5150	C	T	3: 15,990,651	G137S	probably damaging	Het
Gm5346	T	A	8: 43,626,152	H345L	probably damaging	Het
Gpr75	C	T	11: 30,891,529	R145W	probably damaging	Het
Heatr5b	G	A	17: 78,753,073	H2058Y	probably benign	Het
Ina	G	A	19: 47,023,561	E473K	probably benign	Het
Irx6	T	C	8: 92,676,072	S22P	probably benign	Het
Itpr1	T	A	6: 108,417,972	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,226,016	S1383T	probably benign	Het
Lclat1	T	A	17: 73,161,833	S3T	probably damaging	Het
Llgl1	G	A	11: 60,709,660	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239	R708G	probably benign	Het
Mphosph8	T	C	14: 56,688,486	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,464,145	N254Y	probably damaging	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Myog	G	A	1: 134,290,488	D145N	probably benign	Het
Nat10	T	A	2: 103,739,886	I371F	possibly damaging	Het
Neb	A	T	2: 52,167,644	Y229*	probably null	Het
Nlrp6	T	A	7: 140,927,509	I896K	possibly damaging	Het
Olfr235	T	C	19: 12,268,706	S159P	probably damaging	Het
Olfr551	G	A	7: 102,588,671	A24V	probably benign	Het
Olfr740	A	T	14: 50,453,585	I178L	possibly damaging	Het
Pcdhgc5	A	C	18: 37,821,248	E525A	probably damaging	Het
Pkd2	C	A	5: 104,459,924	D96E	probably benign	Het
Prtg	A	G	9: 72,907,856	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,541,284	M981T	probably benign	Het
Rc3h2	C	A	2: 37,409,470	A183S	probably damaging	Het
Rorb	A	T	19: 18,960,492	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,141,189	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,495,205	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,918,947	I109F	probably damaging	Het
Spen	G	A	4: 141,475,509	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,482,513	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,711,663	W89*	probably null	Het
Tbxas1	T	A	6: 38,952,145		probably benign	Het
Tia1	T	A	6: 86,420,378	I111N	probably damaging	Het
Tlr9	T	A	9: 106,223,999	L163H	probably damaging	Het
Tnn	C	T	1: 160,114,719	V806M	probably damaging	Het
Traf5	G	A	1: 191,999,926	A318V	probably benign	Het
Ttc3	T	A	16: 94,418,623	M1K	probably null	Het
Vmn1r192	T	A	13: 22,187,830	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,748,404	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,683,583	N372Y	probably damaging	Het
Wbp2	A	T	11: 116,079,753	S229R	probably damaging	Het
Wdr18	C	T	10: 79,965,281	T176I	probably damaging	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110184709	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110187049	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110196997	splice site	probably benign
IGL01024:Abca6	APN	11	110197142	missense	probably benign
IGL01087:Abca6	APN	11	110191650	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110244310	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110218217	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110184708	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110244224	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110188655	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110219616	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110182924	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110219006	splice site	probably benign
IGL02428:Abca6	APN	11	110178792	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110176968	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110212267	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110188681	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110248548	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110180613	missense	probably benign
IGL03094:Abca6	APN	11	110184112	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110180347	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110182882	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110188641	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110219604	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110236789	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110197154	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110211684	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110244255	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110218281	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110212339	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110184044	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110233845	splice site	probably benign
R1817:Abca6	UTSW	11	110219318	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110197039	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110208799	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110212210	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110212210	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110210083	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110184676	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110187148	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110219649	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110219649	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110210193	frame shift	probably null
R2895:Abca6	UTSW	11	110202426	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110178829	nonsense	probably null
R3111:Abca6	UTSW	11	110178829	nonsense	probably null
R3112:Abca6	UTSW	11	110178829	nonsense	probably null
R4094:Abca6	UTSW	11	110180366	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110241588	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110233772	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110216548	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110230549	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110191718	missense	probably benign
R4852:Abca6	UTSW	11	110244203	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110202379	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110219700	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110180551	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110219604	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110177066	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110218967	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110191720	missense	probably benign
R5393:Abca6	UTSW	11	110244295	missense	probably benign	0.00
R5484:Abca6	UTSW	11	110184073	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110208844	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110218257	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110250408	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110236645	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110210101	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110184670	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110219643	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110208824	missense	probably damaging	0.98
R6826:Abca6	UTSW	11	110216605	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110219688	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110190238	missense	probably benign
R6931:Abca6	UTSW	11	110244328	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110191693	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110241653	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110183026	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110202420	missense	probably benign
R7420:Abca6	UTSW	11	110250477	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110208745	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110180258	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110218952	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110219297	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110184107	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110187872	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110196697	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110191628	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110197104	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110184133	missense	probably damaging	1.00
R8176:Abca6	UTSW	11	110244194	missense	probably benign	0.01
R8179:Abca6	UTSW	11	110245274	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110211815	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110188630	missense	probably null	1.00
R8404:Abca6	UTSW	11	110219319	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110202382	missense	probably benign
R8502:Abca6	UTSW	11	110219319	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110236687	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110248537	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110216655	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110191670	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110202384	nonsense	probably null
R9412:Abca6	UTSW	11	110212233	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110247264	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110211756	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110244216	nonsense	probably null
R9650:Abca6	UTSW	11	110180620	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110216552	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110211763	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110244255	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110197142	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACATTCGTTTCGTATAGTCATTGGC -3'
(R):5'- AGTTATTAAACCAGGGGCACATTC -3'

Sequencing Primer
(F):5'- GTCATTGGCATTTTCTCAAACACAC -3'
(R):5'- GGGCACATTCAAGAATAATAGTGTTG -3'

Posted On

2018-05-24