Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Abca8b'

210965

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109870781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 124 (I124L)

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: I124L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: I124L

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: I124L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: I124L

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		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
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
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'- ACACATGTCAACGTGAACAGGC -3'
(R):5'- CCTCTGACTTGTAGACTGAATGATG -3'

Sequencing Primer
(F):5'- GTCAACGTGAACAGGCATTTTTAGAG -3'
(R):5'- GCTCTCTCATCTGCAGAT -3'

Posted On

2014-06-30