Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Abca8b'

174453

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

ATP-binding cassette, sub-family A member 8b

Synonyms

Abca8

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 109840714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102280 (fasta)

Gene Model

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

AlphaFold

Q8K440

Predicted Effect

probably benign
Transcript: ENSMUST00000020948

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anln	A	G	9: 22,262,214 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260 (GRCm39)	S155P	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Npas2	T	A	1: 39,339,808 (GRCm39)	H119Q	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,037,906 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	probably null	Het

Other mutations in Abca8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Abca8b	APN	11	109,844,374 (GRCm39)	missense	possibly damaging	0.66
IGL00952:Abca8b	APN	11	109,859,886 (GRCm39)	critical splice donor site	probably null
IGL01141:Abca8b	APN	11	109,828,556 (GRCm39)	missense	probably damaging	1.00
IGL01523:Abca8b	APN	11	109,867,320 (GRCm39)	missense	probably damaging	1.00
IGL01633:Abca8b	APN	11	109,827,580 (GRCm39)	missense	probably damaging	0.99
IGL01862:Abca8b	APN	11	109,837,997 (GRCm39)	nonsense	probably null
IGL01963:Abca8b	APN	11	109,862,589 (GRCm39)	missense	probably damaging	0.99
IGL02169:Abca8b	APN	11	109,843,408 (GRCm39)	missense	probably damaging	0.98
IGL02536:Abca8b	APN	11	109,872,574 (GRCm39)	missense	probably benign	0.02
IGL02658:Abca8b	APN	11	109,843,386 (GRCm39)	missense	probably benign
IGL02828:Abca8b	APN	11	109,871,720 (GRCm39)	missense	probably damaging	0.99
IGL03118:Abca8b	APN	11	109,838,007 (GRCm39)	missense	possibly damaging	0.66
IGL03302:Abca8b	APN	11	109,858,576 (GRCm39)	missense	possibly damaging	0.80
IGL03325:Abca8b	APN	11	109,844,422 (GRCm39)	missense	possibly damaging	0.94
R0057:Abca8b	UTSW	11	109,832,385 (GRCm39)	missense	possibly damaging	0.91
R0131:Abca8b	UTSW	11	109,833,115 (GRCm39)	missense	possibly damaging	0.46
R0226:Abca8b	UTSW	11	109,847,844 (GRCm39)	splice site	probably null
R0426:Abca8b	UTSW	11	109,845,853 (GRCm39)	splice site	probably benign
R0432:Abca8b	UTSW	11	109,870,841 (GRCm39)	missense	possibly damaging	0.94
R0512:Abca8b	UTSW	11	109,841,476 (GRCm39)	missense	probably benign	0.32
R0589:Abca8b	UTSW	11	109,833,094 (GRCm39)	missense	probably damaging	0.96
R0690:Abca8b	UTSW	11	109,860,634 (GRCm39)	splice site	probably benign
R1263:Abca8b	UTSW	11	109,832,433 (GRCm39)	missense	possibly damaging	0.66
R1371:Abca8b	UTSW	11	109,844,379 (GRCm39)	missense	probably damaging	0.99
R1497:Abca8b	UTSW	11	109,864,647 (GRCm39)	splice site	probably benign
R1502:Abca8b	UTSW	11	109,865,471 (GRCm39)	missense	probably damaging	1.00
R1517:Abca8b	UTSW	11	109,862,640 (GRCm39)	missense	possibly damaging	0.66
R1543:Abca8b	UTSW	11	109,865,500 (GRCm39)	missense	probably damaging	0.98
R1625:Abca8b	UTSW	11	109,857,947 (GRCm39)	missense	probably benign	0.11
R1753:Abca8b	UTSW	11	109,864,542 (GRCm39)	missense	probably benign	0.00
R1819:Abca8b	UTSW	11	109,871,882 (GRCm39)	critical splice acceptor site	probably null
R1822:Abca8b	UTSW	11	109,847,901 (GRCm39)	missense	possibly damaging	0.92
R1829:Abca8b	UTSW	11	109,833,167 (GRCm39)	missense	probably damaging	0.97
R1873:Abca8b	UTSW	11	109,870,781 (GRCm39)	missense	probably benign	0.01
R1899:Abca8b	UTSW	11	109,828,744 (GRCm39)	missense	possibly damaging	0.92
R1908:Abca8b	UTSW	11	109,847,924 (GRCm39)	missense	possibly damaging	0.92
R1962:Abca8b	UTSW	11	109,870,724 (GRCm39)	missense	probably benign	0.00
R1984:Abca8b	UTSW	11	109,868,667 (GRCm39)	missense	probably damaging	1.00
R2035:Abca8b	UTSW	11	109,847,932 (GRCm39)	missense	possibly damaging	0.94
R2092:Abca8b	UTSW	11	109,857,534 (GRCm39)	missense	possibly damaging	0.63
R2100:Abca8b	UTSW	11	109,828,608 (GRCm39)	missense	probably damaging	1.00
R2267:Abca8b	UTSW	11	109,845,974 (GRCm39)	missense	probably benign	0.03
R2871:Abca8b	UTSW	11	109,846,002 (GRCm39)	missense	possibly damaging	0.83
R2871:Abca8b	UTSW	11	109,846,002 (GRCm39)	missense	possibly damaging	0.83
R2872:Abca8b	UTSW	11	109,846,002 (GRCm39)	missense	possibly damaging	0.83
R2872:Abca8b	UTSW	11	109,846,002 (GRCm39)	missense	possibly damaging	0.83
R2873:Abca8b	UTSW	11	109,846,002 (GRCm39)	missense	possibly damaging	0.83
R3711:Abca8b	UTSW	11	109,837,081 (GRCm39)	missense	possibly damaging	0.46
R3937:Abca8b	UTSW	11	109,865,393 (GRCm39)	missense	probably benign	0.01
R4052:Abca8b	UTSW	11	109,872,551 (GRCm39)	nonsense	probably null
R4060:Abca8b	UTSW	11	109,848,027 (GRCm39)	missense	probably benign	0.04
R4207:Abca8b	UTSW	11	109,872,551 (GRCm39)	nonsense	probably null
R4208:Abca8b	UTSW	11	109,872,551 (GRCm39)	nonsense	probably null
R4354:Abca8b	UTSW	11	109,862,518 (GRCm39)	missense	probably benign	0.27
R4399:Abca8b	UTSW	11	109,827,211 (GRCm39)	missense	possibly damaging	0.66
R4456:Abca8b	UTSW	11	109,833,071 (GRCm39)	missense	probably benign	0.27
R4509:Abca8b	UTSW	11	109,857,581 (GRCm39)	missense	probably damaging	1.00
R4672:Abca8b	UTSW	11	109,827,274 (GRCm39)	missense	possibly damaging	0.81
R4868:Abca8b	UTSW	11	109,865,338 (GRCm39)	missense	probably benign	0.05
R5002:Abca8b	UTSW	11	109,852,623 (GRCm39)	missense	probably damaging	0.96
R5007:Abca8b	UTSW	11	109,827,590 (GRCm39)	missense	probably damaging	1.00
R5014:Abca8b	UTSW	11	109,840,957 (GRCm39)	missense	probably damaging	0.98
R5023:Abca8b	UTSW	11	109,865,814 (GRCm39)	critical splice donor site	probably null
R5091:Abca8b	UTSW	11	109,827,210 (GRCm39)	missense	possibly damaging	0.92
R5098:Abca8b	UTSW	11	109,847,944 (GRCm39)	missense	probably benign	0.05
R5117:Abca8b	UTSW	11	109,857,629 (GRCm39)	missense	probably damaging	1.00
R5234:Abca8b	UTSW	11	109,867,420 (GRCm39)	missense	possibly damaging	0.90
R5302:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5307:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5487:Abca8b	UTSW	11	109,844,340 (GRCm39)	missense	probably damaging	0.99
R5512:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5564:Abca8b	UTSW	11	109,825,407 (GRCm39)	missense	probably benign	0.08
R5610:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5677:Abca8b	UTSW	11	109,831,687 (GRCm39)	missense	probably damaging	1.00
R5723:Abca8b	UTSW	11	109,844,445 (GRCm39)	missense	possibly damaging	0.90
R5827:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5829:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5848:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5849:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5850:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5854:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R5982:Abca8b	UTSW	11	109,844,423 (GRCm39)	missense	possibly damaging	0.80
R5994:Abca8b	UTSW	11	109,840,592 (GRCm39)	splice site	probably null
R6035:Abca8b	UTSW	11	109,862,686 (GRCm39)	splice site	probably null
R6035:Abca8b	UTSW	11	109,862,686 (GRCm39)	splice site	probably null
R6050:Abca8b	UTSW	11	109,868,639 (GRCm39)	missense	probably damaging	1.00
R6145:Abca8b	UTSW	11	109,864,634 (GRCm39)	missense	probably benign	0.03
R6223:Abca8b	UTSW	11	109,868,672 (GRCm39)	missense	probably benign	0.00
R6349:Abca8b	UTSW	11	109,825,544 (GRCm39)	splice site	probably null
R7002:Abca8b	UTSW	11	109,832,390 (GRCm39)	missense	probably damaging	1.00
R7050:Abca8b	UTSW	11	109,864,544 (GRCm39)	missense	possibly damaging	0.90
R7107:Abca8b	UTSW	11	109,867,299 (GRCm39)	missense	probably damaging	0.98
R7158:Abca8b	UTSW	11	109,825,415 (GRCm39)	missense	probably damaging	1.00
R7170:Abca8b	UTSW	11	109,836,654 (GRCm39)	missense	probably benign	0.09
R7197:Abca8b	UTSW	11	109,836,648 (GRCm39)	nonsense	probably null
R7220:Abca8b	UTSW	11	109,872,543 (GRCm39)	missense	probably damaging	1.00
R7512:Abca8b	UTSW	11	109,829,275 (GRCm39)	missense	probably benign	0.01
R7590:Abca8b	UTSW	11	109,829,341 (GRCm39)	missense	probably damaging	0.97
R7658:Abca8b	UTSW	11	109,826,543 (GRCm39)	missense	probably benign	0.00
R7739:Abca8b	UTSW	11	109,865,417 (GRCm39)	missense	probably benign	0.05
R7797:Abca8b	UTSW	11	109,862,509 (GRCm39)	critical splice donor site	probably null
R7934:Abca8b	UTSW	11	109,865,865 (GRCm39)	missense	possibly damaging	0.75
R8074:Abca8b	UTSW	11	109,829,320 (GRCm39)	missense	probably benign
R8302:Abca8b	UTSW	11	109,853,406 (GRCm39)	critical splice donor site	probably null
R8341:Abca8b	UTSW	11	109,845,876 (GRCm39)	missense	probably damaging	1.00
R8486:Abca8b	UTSW	11	109,857,937 (GRCm39)	missense	possibly damaging	0.83
R8748:Abca8b	UTSW	11	109,836,597 (GRCm39)	missense	probably damaging	1.00
R8924:Abca8b	UTSW	11	109,838,003 (GRCm39)	missense	probably benign	0.00
R9002:Abca8b	UTSW	11	109,843,456 (GRCm39)	missense	probably benign	0.02
R9032:Abca8b	UTSW	11	109,848,073 (GRCm39)	missense	probably benign	0.04
R9099:Abca8b	UTSW	11	109,871,708 (GRCm39)	missense	probably damaging	1.00
R9124:Abca8b	UTSW	11	109,828,593 (GRCm39)	missense	probably damaging	0.97
R9178:Abca8b	UTSW	11	109,840,937 (GRCm39)	missense	probably benign	0.00
R9188:Abca8b	UTSW	11	109,872,561 (GRCm39)	nonsense	probably null
R9277:Abca8b	UTSW	11	109,867,347 (GRCm39)	missense	probably damaging	0.99
R9340:Abca8b	UTSW	11	109,840,939 (GRCm39)	missense	probably benign	0.43
R9371:Abca8b	UTSW	11	109,858,498 (GRCm39)	missense	probably damaging	1.00
R9382:Abca8b	UTSW	11	109,870,711 (GRCm39)	missense	probably benign
R9450:Abca8b	UTSW	11	109,859,930 (GRCm39)	missense	probably damaging	0.98
R9462:Abca8b	UTSW	11	109,844,433 (GRCm39)	missense
R9712:Abca8b	UTSW	11	109,833,163 (GRCm39)	missense	probably benign	0.30
Z1088:Abca8b	UTSW	11	109,867,308 (GRCm39)	missense	probably benign	0.09
Z1176:Abca8b	UTSW	11	109,865,470 (GRCm39)	missense	possibly damaging	0.87
Z1176:Abca8b	UTSW	11	109,852,734 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GGGGAAAGTGCAGATTTCAAAAGCTATC -3'
(R):5'- GCCACGTCATACAAGTAAGTGCAAATG -3'

Sequencing Primer
(F):5'- GTGCAGATTTCAAAAGCTATCTAGTC -3'
(R):5'- TGCTTTGCCAGGCACTAA -3'

Posted On

2014-04-24