Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Abca8b'

302444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

109932190-109995845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109952560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 946 (Y946F)

Ref Sequence

ENSEMBL: ENSMUSP00000102280 (fasta)

Gene Model

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

AlphaFold

Q8K440

Predicted Effect

probably benign
Transcript: ENSMUST00000020948
AA Change: Y1008F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: Y1008F

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
AA Change: Y946F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: Y946F

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

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,934,240 (GRCm38)	W657G	probably benign	Het
Adcy1	T	C	11: 7,138,279 (GRCm38)		probably benign	Het
Arap3	A	G	18: 37,990,994 (GRCm38)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281 (GRCm38)	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084 (GRCm38)	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593 (GRCm38)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824 (GRCm38)	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246 (GRCm38)	D264V	probably damaging	Het
Dph1	C	A	11: 75,180,635 (GRCm38)	L311F	probably benign	Het
Eif3l	A	G	15: 79,076,942 (GRCm38)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718 (GRCm38)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465 (GRCm38)	T770S	unknown	Het
Hydin	A	T	8: 110,413,276 (GRCm38)	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096 (GRCm38)	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774 (GRCm38)	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393 (GRCm38)	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713 (GRCm38)	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484 (GRCm38)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,377,060 (GRCm38)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,072,812 (GRCm38)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,984,330 (GRCm38)	M278T	probably benign	Het
Or8s16	A	G	15: 98,313,356 (GRCm38)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,647,046 (GRCm38)	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,972,326 (GRCm38)	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411 (GRCm38)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,524,667 (GRCm38)	Y239C	probably benign	Het
Psma6	A	G	12: 55,412,211 (GRCm38)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702 (GRCm38)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479 (GRCm38)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm38)	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248 (GRCm38)	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955 (GRCm38)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092 (GRCm38)	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331 (GRCm38)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746 (GRCm38)		probably benign	Het
Tns2	C	A	15: 102,107,796 (GRCm38)		probably benign	Het
Trcg1	C	A	9: 57,242,228 (GRCm38)	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158 (GRCm38)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893 (GRCm38)	V124A	probably damaging	Het
Ttf1	T	C	2: 29,074,011 (GRCm38)	I633T	probably damaging	Het
Zfp691	A	G	4: 119,170,507 (GRCm38)	F176S	probably damaging	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
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
R1543:Abca8b	UTSW	11	109,974,674 (GRCm38)	missense	probably damaging	0.98
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

Posted On

2015-04-16