Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Abca8b'

168982

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 109864647 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: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

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
Abhd17a	A	G	10: 80,420,164 (GRCm39)		probably benign	Het
Acacb	G	A	5: 114,334,868 (GRCm39)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,916,743 (GRCm39)	M262V	probably benign	Het
Anapc7	T	A	5: 122,573,578 (GRCm39)		probably benign	Het
Car5b	T	A	X: 162,771,400 (GRCm39)	K188N	probably benign	Het
Caskin1	C	T	17: 24,723,515 (GRCm39)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm39)	S331P	probably benign	Het
Ccdc68	C	T	18: 70,093,585 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,673,300 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,064 (GRCm39)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,479,788 (GRCm39)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,453,123 (GRCm39)	F608S	probably damaging	Het
Col7a1	A	C	9: 108,807,893 (GRCm39)	E2531A	unknown	Het
Ctc1	T	A	11: 68,913,387 (GRCm39)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,223 (GRCm39)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,419,898 (GRCm39)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,908,924 (GRCm39)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,626,213 (GRCm39)		probably benign	Het
Dnah17	A	T	11: 118,005,059 (GRCm39)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,971,049 (GRCm39)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,913,733 (GRCm39)	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,101,315 (GRCm39)	E96G	possibly damaging	Het
Ezr	T	C	17: 7,010,107 (GRCm39)	H314R	probably benign	Het
Fam193b	G	T	13: 55,702,247 (GRCm39)	H43Q	probably damaging	Het
Fam217a	T	A	13: 35,095,195 (GRCm39)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,292,109 (GRCm39)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,127,076 (GRCm39)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,481,169 (GRCm39)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,477,098 (GRCm39)	V36A	probably benign	Het
Hspg2	A	G	4: 137,275,407 (GRCm39)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,455,194 (GRCm39)		probably null	Het
Ipo13	T	C	4: 117,761,856 (GRCm39)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,472,610 (GRCm39)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,973,715 (GRCm39)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,519,513 (GRCm39)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,724,310 (GRCm39)	F235S	probably damaging	Het
Maml1	A	C	11: 50,156,534 (GRCm39)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,384,689 (GRCm39)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,147,393 (GRCm39)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,433,453 (GRCm39)	Q34*	probably null	Het
Mcu	T	A	10: 59,284,670 (GRCm39)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,048,951 (GRCm39)	P199T	probably benign	Het
Mndal	A	T	1: 173,700,441 (GRCm39)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,438,611 (GRCm39)	C23F	probably benign	Het
Mup15	T	A	4: 61,356,471 (GRCm39)	Y98F	probably benign	Het
Myh8	T	C	11: 67,180,638 (GRCm39)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,830,282 (GRCm39)		probably benign	Het
Nlrp4e	T	C	7: 23,019,797 (GRCm39)	S95P	probably benign	Het
Or1e19	T	A	11: 73,316,653 (GRCm39)	D52V	possibly damaging	Het
Or4a66	T	C	2: 88,531,106 (GRCm39)	D189G	probably damaging	Het
Otop2	A	G	11: 115,220,675 (GRCm39)		probably null	Het
Pcnx4	G	C	12: 72,621,174 (GRCm39)	G998A	probably benign	Het
Pnkd	C	A	1: 74,390,681 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,573,204 (GRCm39)	V701E	probably benign	Het
Ryr2	A	G	13: 11,616,727 (GRCm39)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,784,401 (GRCm39)		probably benign	Het
Serpinb5	A	T	1: 106,803,782 (GRCm39)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,234,778 (GRCm39)	V975D	probably benign	Het
Shc1	A	G	3: 89,335,752 (GRCm39)	*470W	probably null	Het
Sik3	T	A	9: 46,113,320 (GRCm39)	V587E	probably damaging	Het
Sik3	C	A	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Spata7	T	C	12: 98,635,120 (GRCm39)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,812,963 (GRCm39)	V1469D	probably benign	Het
Tasor2	T	C	13: 3,620,409 (GRCm39)	E2164G	probably damaging	Het
Tdrd5	A	T	1: 156,083,372 (GRCm39)	N888K	probably benign	Het
Tex22	T	C	12: 113,039,000 (GRCm39)	S34P	probably benign	Het
Tmed6	T	C	8: 107,790,754 (GRCm39)	T98A	probably benign	Het
Trim66	G	A	7: 109,083,826 (GRCm39)	P141L	probably benign	Het
Trpa1	T	C	1: 14,956,036 (GRCm39)	I778V	probably benign	Het
Urb2	T	A	8: 124,754,816 (GRCm39)	H174Q	probably damaging	Het
Usb1	T	C	8: 96,065,325 (GRCm39)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,114,394 (GRCm39)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,311,219 (GRCm39)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,805,160 (GRCm39)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,387,625 (GRCm39)	V210A	probably benign	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Zfp768	T	A	7: 126,942,733 (GRCm39)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,821,105 (GRCm39)	N617Y	probably damaging	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
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
R1618:Abca8b	UTSW	11	109,840,714 (GRCm39)	splice site	probably benign
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'- TGCCTTAGGAAATCTGGTTGGGGAA -3'
(R):5'- TCATGGGATTGGATGCAGCAAAGT -3'

Sequencing Primer
(F):5'- ATGGTAGTCTATTTTGCTCACATCTG -3'
(R):5'- gggcaccaggcatacac -3'

Posted On

2014-04-13