Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Abca6'

425973

Institutional Source

Beutler Lab

Gene Symbol

Abca6

Ensembl Gene

ENSMUSG00000044749

Gene Name

ATP-binding cassette, sub-family A member 6

Synonyms

6330565N06Rik

MMRRC Submission

042965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110067646-110142602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110135121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 221 (E221D)

Ref Sequence

ENSEMBL: ENSMUSP00000035458 (fasta)

Gene Model

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

AlphaFold

Q8K441

Predicted Effect

probably benign
Transcript: ENSMUST00000044003
AA Change: E221D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: E221D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (72/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	A	T	16: 88,860,653 (GRCm39)	Y60*	probably null	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adi1	A	G	12: 28,725,274 (GRCm39)	D8G	probably benign	Het
Adnp	T	C	2: 168,024,869 (GRCm39)	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,574,011 (GRCm39)	H4R	probably benign	Het
Atp6v0a1	T	C	11: 100,929,633 (GRCm39)	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,216,015 (GRCm39)	N94I	probably benign	Het
Catsperg1	T	C	7: 28,884,924 (GRCm39)	N899S	probably damaging	Het
Cilk1	A	G	9: 78,067,997 (GRCm39)	T463A	probably benign	Het
Coro2a	A	G	4: 46,542,255 (GRCm39)	S373P	probably damaging	Het
Cpsf6	G	C	10: 117,197,921 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,497,099 (GRCm39)	N3099K	probably damaging	Het
Ctla2b	T	A	13: 61,043,946 (GRCm39)	E74D	probably damaging	Het
Dnah2	T	A	11: 69,391,683 (GRCm39)	T671S	probably benign	Het
Drd5	T	A	5: 38,478,248 (GRCm39)	S414T	probably benign	Het
Dyrk2	C	T	10: 118,695,753 (GRCm39)	D502N	probably damaging	Het
Ecel1	A	T	1: 87,080,598 (GRCm39)	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,622,903 (GRCm39)	R24Q	unknown	Het
Eloc	A	C	1: 16,718,192 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,515,819 (GRCm39)		probably benign	Het
Fam89b	T	C	19: 5,778,733 (GRCm39)	D152G	probably damaging	Het
Gm15455	G	A	1: 33,875,927 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Hdac10	T	C	15: 89,010,887 (GRCm39)	Y238C	probably damaging	Het
Ighv2-5	T	C	12: 113,649,502 (GRCm39)	T12A	possibly damaging	Het
Insrr	T	C	3: 87,718,007 (GRCm39)		probably null	Het
Irf9	T	C	14: 55,843,914 (GRCm39)		probably benign	Het
Itpr2	A	T	6: 146,277,653 (GRCm39)	C280*	probably null	Het
Kcnk18	T	C	19: 59,208,271 (GRCm39)	C36R	probably damaging	Het
Khdc4	T	A	3: 88,603,913 (GRCm39)	H243Q	probably benign	Het
Klhl14	G	T	18: 21,785,051 (GRCm39)	N125K	probably benign	Het
Lce1i	T	C	3: 92,685,042 (GRCm39)	S45G	unknown	Het
Lrmda	A	C	14: 22,077,374 (GRCm39)	D37A	probably damaging	Het
Marco	A	C	1: 120,413,583 (GRCm39)	D280E	probably damaging	Het
Meak7	T	C	8: 120,499,157 (GRCm39)	I112V	probably benign	Het
Miox	C	T	15: 89,220,450 (GRCm39)	Q180*	probably null	Het
Npdc1	A	T	2: 25,298,682 (GRCm39)	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,063,274 (GRCm39)	K205R	probably damaging	Het
Or2ak6	T	A	11: 58,593,326 (GRCm39)	H266Q	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,829,720 (GRCm39)	R723C	probably benign	Het
Pdlim5	T	A	3: 141,964,947 (GRCm39)	E295D	probably damaging	Het
Poli	C	A	18: 70,650,499 (GRCm39)	E314*	probably null	Het
Ptpro	A	G	6: 137,357,222 (GRCm39)	N238D	probably benign	Het
R3hdm1	A	G	1: 128,159,084 (GRCm39)	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,187,375 (GRCm39)	V1338M	probably damaging	Het
Saa3	T	C	7: 46,362,085 (GRCm39)	Y53C	probably damaging	Het
Septin14	T	A	5: 129,760,650 (GRCm39)	E398D	probably benign	Het
Six3	T	C	17: 85,931,270 (GRCm39)	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,311,919 (GRCm39)	S34P	probably damaging	Het
Smarca2	C	A	19: 26,617,829 (GRCm39)	Q287K	probably benign	Het
Stard9	C	T	2: 120,533,387 (GRCm39)	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,748,363 (GRCm39)		probably null	Het
Tbc1d8	A	T	1: 39,465,169 (GRCm39)	V73E	probably damaging	Het
Tmem120a	T	C	5: 135,765,104 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,819,370 (GRCm39)	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt5b	A	C	6: 119,417,394 (GRCm39)	L157R	probably damaging	Het
Zbtb24	T	A	10: 41,340,578 (GRCm39)	V536E	probably damaging	Het
Zfp593	G	A	4: 133,972,615 (GRCm39)	A67V	probably benign	Het
Zfp995	A	T	17: 22,099,473 (GRCm39)	F254I	probably benign	Het

Other mutations in Abca6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca6	APN	11	110,075,535 (GRCm39)	missense	probably damaging	1.00
IGL00569:Abca6	APN	11	110,077,875 (GRCm39)	missense	possibly damaging	0.88
IGL00737:Abca6	APN	11	110,087,823 (GRCm39)	splice site	probably benign
IGL01024:Abca6	APN	11	110,087,968 (GRCm39)	missense	probably benign
IGL01087:Abca6	APN	11	110,082,476 (GRCm39)	missense	probably benign	0.00
IGL01511:Abca6	APN	11	110,135,136 (GRCm39)	missense	probably benign	0.00
IGL01516:Abca6	APN	11	110,109,043 (GRCm39)	missense	possibly damaging	0.70
IGL01621:Abca6	APN	11	110,075,534 (GRCm39)	missense	probably damaging	1.00
IGL01749:Abca6	APN	11	110,135,050 (GRCm39)	missense	probably damaging	1.00
IGL01934:Abca6	APN	11	110,079,481 (GRCm39)	missense	probably benign	0.00
IGL02010:Abca6	APN	11	110,110,442 (GRCm39)	missense	probably benign	0.12
IGL02121:Abca6	APN	11	110,073,750 (GRCm39)	missense	probably benign	0.38
IGL02423:Abca6	APN	11	110,109,832 (GRCm39)	splice site	probably benign
IGL02428:Abca6	APN	11	110,069,618 (GRCm39)	missense	possibly damaging	0.81
IGL02491:Abca6	APN	11	110,067,794 (GRCm39)	utr 3 prime	probably benign
IGL02541:Abca6	APN	11	110,103,093 (GRCm39)	missense	probably damaging	1.00
IGL02792:Abca6	APN	11	110,079,507 (GRCm39)	missense	probably damaging	0.99
IGL02836:Abca6	APN	11	110,139,374 (GRCm39)	missense	probably damaging	1.00
IGL02965:Abca6	APN	11	110,071,439 (GRCm39)	missense	probably benign
IGL03094:Abca6	APN	11	110,074,938 (GRCm39)	missense	probably benign	0.03
IGL03109:Abca6	APN	11	110,071,173 (GRCm39)	missense	probably damaging	0.96
R0068:Abca6	UTSW	11	110,073,708 (GRCm39)	missense	probably damaging	1.00
R0142:Abca6	UTSW	11	110,079,467 (GRCm39)	missense	probably damaging	1.00
R0165:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R0254:Abca6	UTSW	11	110,127,615 (GRCm39)	missense	probably benign	0.16
R0598:Abca6	UTSW	11	110,087,980 (GRCm39)	missense	probably damaging	1.00
R0992:Abca6	UTSW	11	110,102,510 (GRCm39)	missense	probably damaging	1.00
R1386:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
R1642:Abca6	UTSW	11	110,109,107 (GRCm39)	missense	possibly damaging	0.73
R1673:Abca6	UTSW	11	110,103,165 (GRCm39)	missense	probably benign	0.01
R1792:Abca6	UTSW	11	110,074,870 (GRCm39)	missense	probably benign	0.00
R1813:Abca6	UTSW	11	110,124,671 (GRCm39)	splice site	probably benign
R1817:Abca6	UTSW	11	110,110,144 (GRCm39)	missense	probably benign	0.00
R1842:Abca6	UTSW	11	110,087,865 (GRCm39)	missense	probably benign	0.00
R1898:Abca6	UTSW	11	110,099,625 (GRCm39)	missense	probably damaging	0.99
R1914:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1915:Abca6	UTSW	11	110,103,036 (GRCm39)	missense	probably benign	0.06
R1934:Abca6	UTSW	11	110,100,909 (GRCm39)	critical splice donor site	probably null
R1964:Abca6	UTSW	11	110,075,502 (GRCm39)	missense	probably damaging	0.98
R1967:Abca6	UTSW	11	110,077,974 (GRCm39)	missense	probably benign	0.09
R2127:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2128:Abca6	UTSW	11	110,110,475 (GRCm39)	missense	probably benign	0.00
R2164:Abca6	UTSW	11	110,101,019 (GRCm39)	frame shift	probably null
R2895:Abca6	UTSW	11	110,093,252 (GRCm39)	missense	probably benign	0.00
R3110:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3111:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R3112:Abca6	UTSW	11	110,069,655 (GRCm39)	nonsense	probably null
R4094:Abca6	UTSW	11	110,071,192 (GRCm39)	missense	probably damaging	1.00
R4432:Abca6	UTSW	11	110,132,414 (GRCm39)	missense	probably benign	0.11
R4474:Abca6	UTSW	11	110,124,598 (GRCm39)	missense	possibly damaging	0.46
R4572:Abca6	UTSW	11	110,107,374 (GRCm39)	missense	probably benign	0.31
R4629:Abca6	UTSW	11	110,121,375 (GRCm39)	critical splice acceptor site	probably null
R4793:Abca6	UTSW	11	110,082,544 (GRCm39)	missense	probably benign
R4852:Abca6	UTSW	11	110,135,029 (GRCm39)	missense	probably benign	0.09
R4867:Abca6	UTSW	11	110,093,205 (GRCm39)	missense	probably benign	0.01
R4879:Abca6	UTSW	11	110,110,526 (GRCm39)	missense	probably damaging	0.98
R4918:Abca6	UTSW	11	110,071,377 (GRCm39)	missense	probably damaging	1.00
R5060:Abca6	UTSW	11	110,110,430 (GRCm39)	missense	possibly damaging	0.90
R5062:Abca6	UTSW	11	110,067,892 (GRCm39)	missense	probably benign	0.12
R5083:Abca6	UTSW	11	110,109,793 (GRCm39)	missense	probably damaging	1.00
R5173:Abca6	UTSW	11	110,082,546 (GRCm39)	missense	probably benign
R5484:Abca6	UTSW	11	110,074,899 (GRCm39)	missense	probably damaging	1.00
R5498:Abca6	UTSW	11	110,099,670 (GRCm39)	missense	possibly damaging	0.95
R5503:Abca6	UTSW	11	110,109,083 (GRCm39)	missense	probably damaging	1.00
R5645:Abca6	UTSW	11	110,141,234 (GRCm39)	missense	probably damaging	0.99
R5680:Abca6	UTSW	11	110,127,471 (GRCm39)	missense	possibly damaging	0.88
R5761:Abca6	UTSW	11	110,100,927 (GRCm39)	missense	probably damaging	1.00
R5779:Abca6	UTSW	11	110,075,496 (GRCm39)	missense	probably benign	0.37
R5818:Abca6	UTSW	11	110,110,469 (GRCm39)	missense	probably damaging	1.00
R6282:Abca6	UTSW	11	110,099,650 (GRCm39)	missense	probably damaging	0.98
R6455:Abca6	UTSW	11	110,132,407 (GRCm39)	missense	probably damaging	1.00
R6826:Abca6	UTSW	11	110,107,431 (GRCm39)	missense	probably benign	0.15
R6857:Abca6	UTSW	11	110,110,514 (GRCm39)	missense	possibly damaging	0.63
R6914:Abca6	UTSW	11	110,081,064 (GRCm39)	missense	probably benign
R6931:Abca6	UTSW	11	110,135,154 (GRCm39)	missense	probably benign	0.27
R7222:Abca6	UTSW	11	110,082,519 (GRCm39)	missense	probably benign	0.29
R7242:Abca6	UTSW	11	110,132,479 (GRCm39)	missense	possibly damaging	0.47
R7297:Abca6	UTSW	11	110,073,852 (GRCm39)	critical splice donor site	probably null
R7387:Abca6	UTSW	11	110,093,246 (GRCm39)	missense	probably benign
R7420:Abca6	UTSW	11	110,141,303 (GRCm39)	missense	probably benign	0.24
R7494:Abca6	UTSW	11	110,099,571 (GRCm39)	missense	possibly damaging	0.93
R7603:Abca6	UTSW	11	110,071,084 (GRCm39)	missense	possibly damaging	0.69
R7637:Abca6	UTSW	11	110,109,778 (GRCm39)	missense	probably benign	0.00
R7674:Abca6	UTSW	11	110,110,123 (GRCm39)	missense	probably damaging	1.00
R7753:Abca6	UTSW	11	110,074,933 (GRCm39)	missense	probably damaging	1.00
R7800:Abca6	UTSW	11	110,078,698 (GRCm39)	missense	probably benign	0.00
R7842:Abca6	UTSW	11	110,087,523 (GRCm39)	missense	possibly damaging	0.76
R7855:Abca6	UTSW	11	110,082,454 (GRCm39)	missense	probably benign	0.01
R8119:Abca6	UTSW	11	110,087,930 (GRCm39)	missense	probably benign	0.00
R8139:Abca6	UTSW	11	110,074,959 (GRCm39)	missense	probably damaging	1.00
R8176:Abca6	UTSW	11	110,135,020 (GRCm39)	missense	probably benign	0.01
R8179:Abca6	UTSW	11	110,136,100 (GRCm39)	missense	probably damaging	1.00
R8197:Abca6	UTSW	11	110,102,641 (GRCm39)	missense	probably damaging	0.99
R8241:Abca6	UTSW	11	110,079,456 (GRCm39)	missense	probably null	1.00
R8404:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8429:Abca6	UTSW	11	110,093,208 (GRCm39)	missense	probably benign
R8502:Abca6	UTSW	11	110,110,145 (GRCm39)	missense	probably damaging	0.99
R8816:Abca6	UTSW	11	110,127,513 (GRCm39)	missense	probably benign	0.04
R8964:Abca6	UTSW	11	110,139,363 (GRCm39)	missense	probably benign	0.00
R9153:Abca6	UTSW	11	110,107,481 (GRCm39)	missense	possibly damaging	0.61
R9233:Abca6	UTSW	11	110,082,496 (GRCm39)	missense	probably benign	0.31
R9407:Abca6	UTSW	11	110,093,210 (GRCm39)	nonsense	probably null
R9412:Abca6	UTSW	11	110,103,059 (GRCm39)	missense	probably damaging	0.99
R9453:Abca6	UTSW	11	110,138,090 (GRCm39)	critical splice donor site	probably null
R9533:Abca6	UTSW	11	110,102,582 (GRCm39)	missense	probably benign	0.16
R9546:Abca6	UTSW	11	110,135,042 (GRCm39)	nonsense	probably null
R9650:Abca6	UTSW	11	110,071,446 (GRCm39)	missense	probably benign	0.32
R9702:Abca6	UTSW	11	110,107,378 (GRCm39)	missense	probably damaging	1.00
R9709:Abca6	UTSW	11	110,102,589 (GRCm39)	missense	probably benign	0.01
X0024:Abca6	UTSW	11	110,135,081 (GRCm39)	missense	probably benign	0.02
X0064:Abca6	UTSW	11	110,087,968 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCAATAGTGAGCACGGACAAC -3'
(R):5'- ACCTCCAAGGCTTATTCTAGC -3'

Sequencing Primer
(F):5'- TGTCAAAGGCAACCCGTG -3'
(R):5'- CCAAGGCTTATTCTAGCTCTGTC -3'

Posted On

2016-08-04