Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Abca8b'

171945

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 8b

Synonyms

Abca8

MMRRC Submission

039582-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1543 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

109932190-109995845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109974674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 319 (M319R)

Ref Sequence

ENSEMBL: ENSMUSP00000020948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020948] [ENSMUST00000106669]

AlphaFold

Q8K440

Predicted Effect

probably damaging
Transcript: ENSMUST00000020948
AA Change: M319R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: M319R

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	417	3.9e-28	PFAM
AAA	507	691	6.36e-10	SMART
Pfam:ABC2_membrane_3	859	1215	1e-10	PFAM
low complexity region	1246	1255	N/A	INTRINSIC
AAA	1313	1492	6.17e-8	SMART
low complexity region	1597	1607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106669

SMART Domains

Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	344	2.6e-16	PFAM
AAA	445	629	6.36e-10	SMART
transmembrane domain	798	815	N/A	INTRINSIC
transmembrane domain	1001	1023	N/A	INTRINSIC
transmembrane domain	1038	1060	N/A	INTRINSIC
transmembrane domain	1072	1091	N/A	INTRINSIC
transmembrane domain	1101	1123	N/A	INTRINSIC
transmembrane domain	1136	1158	N/A	INTRINSIC
low complexity region	1184	1193	N/A	INTRINSIC
AAA	1251	1430	6.17e-8	SMART
low complexity region	1535	1545	N/A	INTRINSIC

Meta Mutation Damage Score

0.4762

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,968,204 (GRCm38)	V206I	probably damaging	Het
2610507B11Rik	A	G	11: 78,275,174 (GRCm38)	T1422A	probably benign	Het
4933425L06Rik	A	T	13: 105,112,369 (GRCm38)	R364*	probably null	Het
Abcc6	T	C	7: 46,016,504 (GRCm38)	R231G	probably benign	Het
Acadm	A	G	3: 153,929,572 (GRCm38)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,603,008 (GRCm38)	R423S	probably damaging	Het
Adam7	T	A	14: 68,521,922 (GRCm38)		probably benign	Het
Adgrb3	A	C	1: 25,488,088 (GRCm38)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,859,273 (GRCm38)	F224V	probably damaging	Het
Adm2	G	C	15: 89,324,079 (GRCm38)	G74A	probably damaging	Het
Aen	T	A	7: 78,902,622 (GRCm38)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,192,516 (GRCm38)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,606,155 (GRCm38)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,713,017 (GRCm38)	R430H	probably benign	Het
Asb17	T	G	3: 153,844,511 (GRCm38)	L60W	probably damaging	Het
BC035044	T	C	6: 128,890,985 (GRCm38)		probably benign	Het
Cacna2d1	A	T	5: 16,266,718 (GRCm38)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,603,877 (GRCm38)		probably benign	Het
Coro2b	C	T	9: 62,425,841 (GRCm38)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,376,194 (GRCm38)		probably benign	Het
Cyp2c67	C	A	19: 39,643,264 (GRCm38)		probably benign	Het
Dclk3	A	G	9: 111,468,054 (GRCm38)	H222R	probably benign	Het
Deaf1	A	G	7: 141,324,147 (GRCm38)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,144,448 (GRCm38)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,594,211 (GRCm38)	V605E	probably benign	Het
Frem2	A	T	3: 53,572,455 (GRCm38)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,981,587 (GRCm38)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,872,424 (GRCm38)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,809,529 (GRCm38)		probably benign	Het
Hipk1	T	C	3: 103,778,164 (GRCm38)	H45R	probably benign	Het
Hyal2	T	C	9: 107,570,187 (GRCm38)	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,068,521 (GRCm38)	R479W	probably damaging	Het
Lilr4b	A	G	10: 51,481,421 (GRCm38)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,412,069 (GRCm38)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,895,390 (GRCm38)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,500,730 (GRCm38)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,720,018 (GRCm38)	K527E	probably benign	Het
Map10	C	T	8: 125,670,872 (GRCm38)	P335S	probably benign	Het
Mast3	A	G	8: 70,792,311 (GRCm38)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 119,542,069 (GRCm38)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm38)	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,812,372 (GRCm38)	A244D	possibly damaging	Het
Olfr1294	A	G	2: 111,537,797 (GRCm38)	V164A	probably benign	Het
Olfr3	A	T	2: 36,813,057 (GRCm38)	F12I	probably damaging	Het
Olfr358	C	A	2: 37,005,127 (GRCm38)	L162F	probably damaging	Het
Olfr592	T	A	7: 103,187,214 (GRCm38)	F204L	probably benign	Het
Olfr876	T	A	9: 37,803,947 (GRCm38)	I12N	possibly damaging	Het
Pcx	A	T	19: 4,602,223 (GRCm38)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,683 (GRCm38)		probably null	Het
Pkd1l1	A	G	11: 8,901,200 (GRCm38)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,740,882 (GRCm38)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,785,530 (GRCm38)	M248L	probably benign	Het
Ryr1	T	G	7: 29,083,537 (GRCm38)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,150,429 (GRCm38)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,184,857 (GRCm38)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,560,800 (GRCm38)	V236A	probably benign	Het
Sobp	T	C	10: 43,021,724 (GRCm38)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,702,242 (GRCm38)	R691S	probably benign	Het
Speg	A	G	1: 75,421,951 (GRCm38)	E2014G	probably damaging	Het
Steap4	A	G	5: 7,975,902 (GRCm38)		probably benign	Het
Tas2r144	G	A	6: 42,215,603 (GRCm38)	M92I	probably benign	Het
Tbc1d5	T	C	17: 50,935,532 (GRCm38)	Q179R	probably benign	Het
Tcf25	T	C	8: 123,388,587 (GRCm38)	Y188H	probably benign	Het
Tmem2	G	T	19: 21,812,573 (GRCm38)	A668S	probably benign	Het
Tmem200a	G	A	10: 26,078,620 (GRCm38)		probably benign	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,372,209 (GRCm38)	T337A	probably benign	Het
Ttc23	T	C	7: 67,678,995 (GRCm38)	V228A	probably benign	Het
Tulp1	A	T	17: 28,362,671 (GRCm38)		probably benign	Het
Uqcc3	A	G	19: 8,880,753 (GRCm38)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 64,089,573 (GRCm38)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,522,374 (GRCm38)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,844,081 (GRCm38)	V3451L	probably benign	Het
Wdr19	G	A	5: 65,224,690 (GRCm38)	V418I	probably benign	Het
Wdr60	T	C	12: 116,231,784 (GRCm38)		probably benign	Het
Xirp2	C	T	2: 67,508,039 (GRCm38)	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,991,676 (GRCm38)	V639A	probably benign	Het

Other mutations in Abca8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Abca8b	APN	11	109,953,548 (GRCm38)	missense	possibly damaging	0.66
IGL00952:Abca8b	APN	11	109,969,060 (GRCm38)	critical splice donor site	probably null
IGL01141:Abca8b	APN	11	109,937,730 (GRCm38)	missense	probably damaging	1.00
IGL01523:Abca8b	APN	11	109,976,494 (GRCm38)	missense	probably damaging	1.00
IGL01633:Abca8b	APN	11	109,936,754 (GRCm38)	missense	probably damaging	0.99
IGL01862:Abca8b	APN	11	109,947,171 (GRCm38)	nonsense	probably null
IGL01963:Abca8b	APN	11	109,971,763 (GRCm38)	missense	probably damaging	0.99
IGL02169:Abca8b	APN	11	109,952,582 (GRCm38)	missense	probably damaging	0.98
IGL02536:Abca8b	APN	11	109,981,748 (GRCm38)	missense	probably benign	0.02
IGL02658:Abca8b	APN	11	109,952,560 (GRCm38)	missense	probably benign
IGL02828:Abca8b	APN	11	109,980,894 (GRCm38)	missense	probably damaging	0.99
IGL03118:Abca8b	APN	11	109,947,181 (GRCm38)	missense	possibly damaging	0.66
IGL03302:Abca8b	APN	11	109,967,750 (GRCm38)	missense	possibly damaging	0.80
IGL03325:Abca8b	APN	11	109,953,596 (GRCm38)	missense	possibly damaging	0.94
R0057:Abca8b	UTSW	11	109,941,559 (GRCm38)	missense	possibly damaging	0.91
R0131:Abca8b	UTSW	11	109,942,289 (GRCm38)	missense	possibly damaging	0.46
R0226:Abca8b	UTSW	11	109,957,018 (GRCm38)	splice site	probably null
R0426:Abca8b	UTSW	11	109,955,027 (GRCm38)	splice site	probably benign
R0432:Abca8b	UTSW	11	109,980,015 (GRCm38)	missense	possibly damaging	0.94
R0512:Abca8b	UTSW	11	109,950,650 (GRCm38)	missense	probably benign	0.32
R0589:Abca8b	UTSW	11	109,942,268 (GRCm38)	missense	probably damaging	0.96
R0690:Abca8b	UTSW	11	109,969,808 (GRCm38)	splice site	probably benign
R1263:Abca8b	UTSW	11	109,941,607 (GRCm38)	missense	possibly damaging	0.66
R1371:Abca8b	UTSW	11	109,953,553 (GRCm38)	missense	probably damaging	0.99
R1497:Abca8b	UTSW	11	109,973,821 (GRCm38)	splice site	probably benign
R1502:Abca8b	UTSW	11	109,974,645 (GRCm38)	missense	probably damaging	1.00
R1517:Abca8b	UTSW	11	109,971,814 (GRCm38)	missense	possibly damaging	0.66
R1618:Abca8b	UTSW	11	109,949,888 (GRCm38)	splice site	probably benign
R1625:Abca8b	UTSW	11	109,967,121 (GRCm38)	missense	probably benign	0.11
R1753:Abca8b	UTSW	11	109,973,716 (GRCm38)	missense	probably benign	0.00
R1819:Abca8b	UTSW	11	109,981,056 (GRCm38)	critical splice acceptor site	probably null
R1822:Abca8b	UTSW	11	109,957,075 (GRCm38)	missense	possibly damaging	0.92
R1829:Abca8b	UTSW	11	109,942,341 (GRCm38)	missense	probably damaging	0.97
R1873:Abca8b	UTSW	11	109,979,955 (GRCm38)	missense	probably benign	0.01
R1899:Abca8b	UTSW	11	109,937,918 (GRCm38)	missense	possibly damaging	0.92
R1908:Abca8b	UTSW	11	109,957,098 (GRCm38)	missense	possibly damaging	0.92
R1962:Abca8b	UTSW	11	109,979,898 (GRCm38)	missense	probably benign	0.00
R1984:Abca8b	UTSW	11	109,977,841 (GRCm38)	missense	probably damaging	1.00
R2035:Abca8b	UTSW	11	109,957,106 (GRCm38)	missense	possibly damaging	0.94
R2092:Abca8b	UTSW	11	109,966,708 (GRCm38)	missense	possibly damaging	0.63
R2100:Abca8b	UTSW	11	109,937,782 (GRCm38)	missense	probably damaging	1.00
R2267:Abca8b	UTSW	11	109,955,148 (GRCm38)	missense	probably benign	0.03
R2871:Abca8b	UTSW	11	109,955,176 (GRCm38)	missense	possibly damaging	0.83
R2871:Abca8b	UTSW	11	109,955,176 (GRCm38)	missense	possibly damaging	0.83
R2872:Abca8b	UTSW	11	109,955,176 (GRCm38)	missense	possibly damaging	0.83
R2872:Abca8b	UTSW	11	109,955,176 (GRCm38)	missense	possibly damaging	0.83
R2873:Abca8b	UTSW	11	109,955,176 (GRCm38)	missense	possibly damaging	0.83
R3711:Abca8b	UTSW	11	109,946,255 (GRCm38)	missense	possibly damaging	0.46
R3937:Abca8b	UTSW	11	109,974,567 (GRCm38)	missense	probably benign	0.01
R4052:Abca8b	UTSW	11	109,981,725 (GRCm38)	nonsense	probably null
R4060:Abca8b	UTSW	11	109,957,201 (GRCm38)	missense	probably benign	0.04
R4207:Abca8b	UTSW	11	109,981,725 (GRCm38)	nonsense	probably null
R4208:Abca8b	UTSW	11	109,981,725 (GRCm38)	nonsense	probably null
R4354:Abca8b	UTSW	11	109,971,692 (GRCm38)	missense	probably benign	0.27
R4399:Abca8b	UTSW	11	109,936,385 (GRCm38)	missense	possibly damaging	0.66
R4456:Abca8b	UTSW	11	109,942,245 (GRCm38)	missense	probably benign	0.27
R4509:Abca8b	UTSW	11	109,966,755 (GRCm38)	missense	probably damaging	1.00
R4672:Abca8b	UTSW	11	109,936,448 (GRCm38)	missense	possibly damaging	0.81
R4868:Abca8b	UTSW	11	109,974,512 (GRCm38)	missense	probably benign	0.05
R5002:Abca8b	UTSW	11	109,961,797 (GRCm38)	missense	probably damaging	0.96
R5007:Abca8b	UTSW	11	109,936,764 (GRCm38)	missense	probably damaging	1.00
R5014:Abca8b	UTSW	11	109,950,131 (GRCm38)	missense	probably damaging	0.98
R5023:Abca8b	UTSW	11	109,974,988 (GRCm38)	critical splice donor site	probably null
R5091:Abca8b	UTSW	11	109,936,384 (GRCm38)	missense	possibly damaging	0.92
R5098:Abca8b	UTSW	11	109,957,118 (GRCm38)	missense	probably benign	0.05
R5117:Abca8b	UTSW	11	109,966,803 (GRCm38)	missense	probably damaging	1.00
R5234:Abca8b	UTSW	11	109,976,594 (GRCm38)	missense	possibly damaging	0.90
R5302:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5307:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5487:Abca8b	UTSW	11	109,953,514 (GRCm38)	missense	probably damaging	0.99
R5512:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5564:Abca8b	UTSW	11	109,934,581 (GRCm38)	missense	probably benign	0.08
R5610:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5677:Abca8b	UTSW	11	109,940,861 (GRCm38)	missense	probably damaging	1.00
R5723:Abca8b	UTSW	11	109,953,619 (GRCm38)	missense	possibly damaging	0.90
R5827:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5829:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5848:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5849:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5850:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5854:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R5982:Abca8b	UTSW	11	109,953,597 (GRCm38)	missense	possibly damaging	0.80
R5994:Abca8b	UTSW	11	109,949,766 (GRCm38)	splice site	probably null
R6035:Abca8b	UTSW	11	109,971,860 (GRCm38)	splice site	probably null
R6035:Abca8b	UTSW	11	109,971,860 (GRCm38)	splice site	probably null
R6050:Abca8b	UTSW	11	109,977,813 (GRCm38)	missense	probably damaging	1.00
R6145:Abca8b	UTSW	11	109,973,808 (GRCm38)	missense	probably benign	0.03
R6223:Abca8b	UTSW	11	109,977,846 (GRCm38)	missense	probably benign	0.00
R6349:Abca8b	UTSW	11	109,934,718 (GRCm38)	splice site	probably null
R7002:Abca8b	UTSW	11	109,941,564 (GRCm38)	missense	probably damaging	1.00
R7050:Abca8b	UTSW	11	109,973,718 (GRCm38)	missense	possibly damaging	0.90
R7107:Abca8b	UTSW	11	109,976,473 (GRCm38)	missense	probably damaging	0.98
R7158:Abca8b	UTSW	11	109,934,589 (GRCm38)	missense	probably damaging	1.00
R7170:Abca8b	UTSW	11	109,945,828 (GRCm38)	missense	probably benign	0.09
R7197:Abca8b	UTSW	11	109,945,822 (GRCm38)	nonsense	probably null
R7220:Abca8b	UTSW	11	109,981,717 (GRCm38)	missense	probably damaging	1.00
R7512:Abca8b	UTSW	11	109,938,449 (GRCm38)	missense	probably benign	0.01
R7590:Abca8b	UTSW	11	109,938,515 (GRCm38)	missense	probably damaging	0.97
R7658:Abca8b	UTSW	11	109,935,717 (GRCm38)	missense	probably benign	0.00
R7739:Abca8b	UTSW	11	109,974,591 (GRCm38)	missense	probably benign	0.05
R7797:Abca8b	UTSW	11	109,971,683 (GRCm38)	critical splice donor site	probably null
R7934:Abca8b	UTSW	11	109,975,039 (GRCm38)	missense	possibly damaging	0.75
R8074:Abca8b	UTSW	11	109,938,494 (GRCm38)	missense	probably benign
R8302:Abca8b	UTSW	11	109,962,580 (GRCm38)	critical splice donor site	probably null
R8341:Abca8b	UTSW	11	109,955,050 (GRCm38)	missense	probably damaging	1.00
R8486:Abca8b	UTSW	11	109,967,111 (GRCm38)	missense	possibly damaging	0.83
R8748:Abca8b	UTSW	11	109,945,771 (GRCm38)	missense	probably damaging	1.00
R8924:Abca8b	UTSW	11	109,947,177 (GRCm38)	missense	probably benign	0.00
R9002:Abca8b	UTSW	11	109,952,630 (GRCm38)	missense	probably benign	0.02
R9032:Abca8b	UTSW	11	109,957,247 (GRCm38)	missense	probably benign	0.04
R9099:Abca8b	UTSW	11	109,980,882 (GRCm38)	missense	probably damaging	1.00
R9124:Abca8b	UTSW	11	109,937,767 (GRCm38)	missense	probably damaging	0.97
R9178:Abca8b	UTSW	11	109,950,111 (GRCm38)	missense	probably benign	0.00
R9188:Abca8b	UTSW	11	109,981,735 (GRCm38)	nonsense	probably null
R9277:Abca8b	UTSW	11	109,976,521 (GRCm38)	missense	probably damaging	0.99
R9340:Abca8b	UTSW	11	109,950,113 (GRCm38)	missense	probably benign	0.43
R9371:Abca8b	UTSW	11	109,967,672 (GRCm38)	missense	probably damaging	1.00
R9382:Abca8b	UTSW	11	109,979,885 (GRCm38)	missense	probably benign
R9450:Abca8b	UTSW	11	109,969,104 (GRCm38)	missense	probably damaging	0.98
R9462:Abca8b	UTSW	11	109,953,607 (GRCm38)	missense
R9712:Abca8b	UTSW	11	109,942,337 (GRCm38)	missense	probably benign	0.30
Z1088:Abca8b	UTSW	11	109,976,482 (GRCm38)	missense	probably benign	0.09
Z1176:Abca8b	UTSW	11	109,974,644 (GRCm38)	missense	possibly damaging	0.87
Z1176:Abca8b	UTSW	11	109,961,908 (GRCm38)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TAGGTAACAGATCCTCACCTGGGC -3'
(R):5'- ACCAGCTTCATGGTGGTCTTTAGC -3'

Sequencing Primer
(F):5'- CCATTCCTAGTGTGAAGGCAAAG -3'
(R):5'- GAGTTGATTTAAAATTCCCCTTGCC -3'

Posted On

2014-04-13