Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Abca6'

563303

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 #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110176820-110251776 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110241653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 272 (V272D)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044003
AA Change: V272D

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: V272D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,931,128	Y354F	probably damaging	Het
1700001J03Rik	A	T	5: 146,184,867	I74N	probably damaging	Het
4921501E09Rik	A	G	17: 33,067,127	Y234H	probably damaging	Het
Acot11	A	T	4: 106,762,493	S163R	probably benign	Het
Adcy5	T	C	16: 35,156,835	L246P	probably damaging	Het
Adgra1	A	T	7: 139,847,657		probably null	Het
Adgra2	A	G	8: 27,122,027	T1335A	probably damaging	Het
Armt1	T	C	10: 4,453,475	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,505	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,363,835	C163Y	unknown	Het
Cables1	T	C	18: 11,840,007	S68P	possibly damaging	Het
Cacna1d	A	G	14: 30,178,706	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Celf1	T	A	2: 91,003,257	C119*	probably null	Het
Cfap57	C	T	4: 118,593,096	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,927,250	M1K	probably null	Het
Chrnd	C	T	1: 87,197,479	T418I	probably damaging	Het
Coch	G	T	12: 51,593,561		probably benign	Het
Cop1	A	G	1: 159,284,548	T345A	probably benign	Het
Cops6	A	G	5: 138,163,580	T96A	probably benign	Het
Corin	T	C	5: 72,305,055	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,617,339	T371N	probably benign	Het
Dap	T	A	15: 31,273,308	*103R	probably null	Het
Defb35	T	A	8: 21,940,757	V49E	unknown	Het
Dmtf1	T	A	5: 9,149,016	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,618,020	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,293,972	E264K	probably benign	Het
Dtx3l	A	T	16: 35,933,401	N278K	possibly damaging	Het
Fam161a	T	A	11: 23,020,037	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,745,796	S114T	unknown	Het
Focad	T	G	4: 88,309,906	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171	T418S	probably damaging	Het
Gclc	A	G	9: 77,785,371	Y264C	probably benign	Het
Ggn	G	A	7: 29,173,034	C649Y	possibly damaging	Het
Gm10184	G	A	17: 89,910,135	T61I	probably benign	Het
Gys1	A	G	7: 45,439,668		probably null	Het
Hsd3b1	T	C	3: 98,853,210	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,772,606	K191E	probably benign	Het
Ik	A	T	18: 36,748,222	S79C	probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Mast4	A	G	13: 102,738,478	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885	V555E	probably damaging	Het
Met	G	A	6: 17,491,317	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,709,474	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011	D86E	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Olfr1120	G	A	2: 87,358,082	V213I	probably benign	Het
Olfr1352	A	T	10: 78,984,497	K236*	probably null	Het
Olfr504	T	G	7: 108,565,712	S28R	probably benign	Het
Olfr935	A	G	9: 38,995,141	I98T	probably benign	Het
Patj	A	T	4: 98,591,933	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,203,217	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,144,893	I309F	possibly damaging	Het
Phtf1	A	G	3: 103,998,696	S565G	probably damaging	Het
Plekha2	A	C	8: 25,088,395	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,856,388	M20V	unknown	Het
Pth2r	A	G	1: 65,388,620	D484G	probably benign	Het
Rapgef2	G	A	3: 79,087,903	Q665*	probably null	Het
Scamp1	G	A	13: 94,233,140	T59I	probably benign	Het
Sema4a	T	A	3: 88,450,109	D230V	probably damaging	Het
Snw1	C	T	12: 87,468,645	G45R	possibly damaging	Het
Sox30	T	A	11: 45,984,520		probably null	Het
Sspo	T	A	6: 48,473,952	I2665K	probably benign	Het
Stx5a	T	A	19: 8,755,277	W437R	unknown	Het
Tln1	A	G	4: 43,542,602	V1402A	probably benign	Het
Tpm1	A	G	9: 67,028,101	L244P	probably benign	Het
Try5	T	A	6: 41,313,454	E32V	probably benign	Het
Ttn	T	C	2: 76,721,729	N31188S	probably benign	Het
Tulp1	T	C	17: 28,363,405		probably null	Het
Usp13	T	G	3: 32,865,743		probably null	Het
Vax2	A	G	6: 83,711,316	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,485,613	Y139*	probably null	Het
Wisp2	T	C	2: 163,828,852	F93S	probably benign	Het
Zfp423	T	C	8: 87,904,527	D21G	probably benign	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
R6455:Abca6	UTSW	11	110241581	missense	probably damaging	1.00
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
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'- CACACTGGACATGACAAAGTG -3'
(R):5'- AAGGAGAGTATACACAGTGTACTTCTG -3'

Sequencing Primer
(F):5'- CAAAGTGTCTCCTTAACATTCTCGAG -3'
(R):5'- GTATACACAGTGTACTTCTGCCATG -3'

Posted On

2019-06-26