Mutagenetix > Incidental Mutation

Incidental Mutation 'R7739:Abca8b'

596442

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

045795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7739 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109865417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 347 (S347P)

Ref Sequence

ENSEMBL: ENSMUSP00000020948 (fasta)

Gene Model

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

AlphaFold

Q8K440

Predicted Effect

probably benign
Transcript: ENSMUST00000020948
AA Change: S347P

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: S347P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,885,875 (GRCm39)	A336S	probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Atp13a4	A	G	16: 29,275,419 (GRCm39)	I355T		Het
Atp2a2	G	A	5: 122,607,768 (GRCm39)	T247I	probably damaging	Het
Atp2b1	T	A	10: 98,837,227 (GRCm39)	D555E	probably benign	Het
Aurkb	G	T	11: 68,939,058 (GRCm39)	G94*	probably null	Het
B130006D01Rik	A	T	11: 95,616,986 (GRCm39)	H37L	unknown	Het
Cabin1	A	G	10: 75,494,492 (GRCm39)	L1629P	probably damaging	Het
Ccdc168	G	A	1: 44,095,578 (GRCm39)	T1840I	possibly damaging	Het
Ccdc80	A	C	16: 44,916,186 (GRCm39)	D314A	probably benign	Het
Cdc42bpg	T	A	19: 6,360,845 (GRCm39)	I201N	probably damaging	Het
Chd9	T	C	8: 91,761,653 (GRCm39)	L2246P	probably damaging	Het
Cpsf1	T	A	15: 76,484,511 (GRCm39)	M657L	probably benign	Het
Dmtf1	A	G	5: 9,190,453 (GRCm39)	V87A	probably damaging	Het
Drd5	G	T	5: 38,477,421 (GRCm39)	W138L	probably damaging	Het
Dspp	G	A	5: 104,326,012 (GRCm39)	D792N	unknown	Het
Fat2	C	A	11: 55,171,957 (GRCm39)	E2919*	probably null	Het
Fgf20	A	G	8: 40,732,937 (GRCm39)	V167A	probably damaging	Het
Grm5	T	C	7: 87,779,266 (GRCm39)	V934A	possibly damaging	Het
Gtf3c3	G	T	1: 54,444,198 (GRCm39)	A730D	possibly damaging	Het
H2-T24	A	G	17: 36,325,483 (GRCm39)	V335A	probably benign	Het
Havcr2	T	G	11: 46,347,384 (GRCm39)	N120K	probably damaging	Het
Hmcn2	T	C	2: 31,348,038 (GRCm39)	F4895L	possibly damaging	Het
Igsf3	T	C	3: 101,342,847 (GRCm39)	Y475H	probably damaging	Het
Lonp1	T	C	17: 56,933,620 (GRCm39)	D85G	probably benign	Het
Lrrc49	T	C	9: 60,500,975 (GRCm39)	S657G	probably benign	Het
Lrrk2	T	A	15: 91,584,816 (GRCm39)	Y382N	probably damaging	Het
Macf1	T	C	4: 123,279,391 (GRCm39)	D3870G	probably damaging	Het
Mtf1	T	A	4: 124,718,081 (GRCm39)	C260S	probably damaging	Het
Naa35	A	G	13: 59,747,598 (GRCm39)	D110G	probably damaging	Het
Npas3	A	T	12: 54,115,501 (GRCm39)	T808S	probably damaging	Het
Or5a1	A	G	19: 12,097,909 (GRCm39)	W56R	probably damaging	Het
Pax9	A	T	12: 56,746,884 (GRCm39)	H240L	probably benign	Het
Pik3c2a	T	C	7: 115,993,529 (GRCm39)	T413A	probably benign	Het
Pik3r1	A	G	13: 101,846,205 (GRCm39)	V127A	probably benign	Het
Pik3r5	A	G	11: 68,381,324 (GRCm39)	E170G	probably damaging	Het
Polr1a	T	C	6: 71,931,819 (GRCm39)	I966T	possibly damaging	Het
Prelid2	A	G	18: 42,045,433 (GRCm39)		probably null	Het
Rab29	T	A	1: 131,799,923 (GRCm39)	M166K	probably damaging	Het
Rab2b	T	C	14: 52,503,717 (GRCm39)	E135G	probably damaging	Het
Rnf103	T	A	6: 71,486,463 (GRCm39)	S365T	possibly damaging	Het
Rnf213	G	A	11: 119,301,687 (GRCm39)	E387K		Het
Sh3d19	T	C	3: 86,031,038 (GRCm39)	V734A	probably benign	Het
Spata31e5	T	A	1: 28,816,689 (GRCm39)	T448S	possibly damaging	Het
Spmip3	T	A	1: 177,570,828 (GRCm39)	I54K	probably damaging	Het
Ssbp1	T	G	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Tbc1d31	C	T	15: 57,799,494 (GRCm39)	R227*	probably null	Het
Tcerg1	A	G	18: 42,657,039 (GRCm39)	T174A	unknown	Het
Tenm2	T	C	11: 35,960,388 (GRCm39)	S980G	possibly damaging	Het
Trim30a	T	C	7: 104,079,386 (GRCm39)	I156M	possibly damaging	Het
Trim39	T	C	17: 36,571,396 (GRCm39)	D454G	possibly damaging	Het
Trpc7	A	T	13: 56,921,579 (GRCm39)	*863K	probably null	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Vmn1r33	C	T	6: 66,589,357 (GRCm39)	D66N	probably benign	Het
Vmn2r8	A	T	5: 108,950,043 (GRCm39)	I268N	probably damaging	Het
Vmn2r91	A	C	17: 18,356,080 (GRCm39)	E582D	probably benign	Het
Vtcn1	T	C	3: 100,791,211 (GRCm39)	F83S	probably damaging	Het
Wdr81	G	T	11: 75,332,811 (GRCm39)	D684E		Het
Wipi1	A	G	11: 109,470,535 (GRCm39)	S295P	probably damaging	Het
Zfp27	A	T	7: 29,593,699 (GRCm39)	H755Q	possibly damaging	Het
Zfp963	A	G	8: 70,195,533 (GRCm39)	F307L	possibly 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
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
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
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'- GTTAAATCAGAGTGATTATGCTAGGGC -3'
(R):5'- CACAGTTGCAAGACATGTTTTG -3'

Sequencing Primer
(F):5'- GAGTGATTATGCTAGGGCTTTAAATC -3'
(R):5'- GGGTCTGCTCTCATTCTAGA -3'

Posted On

2019-11-26