Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Abca8b'

557460

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

045329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109825415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1595 (E1595V)

Ref Sequence

ENSEMBL: ENSMUSP00000020948 (fasta)

Gene Model

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

AlphaFold

Q8K440

Predicted Effect

probably damaging
Transcript: ENSMUST00000020948
AA Change: E1595V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: E1595V

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

possibly damaging
Transcript: ENSMUST00000106669
AA Change: E1533V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: E1533V

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: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	probably benign	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
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'- CCAGCCTCTATACGGTACTCAC -3'
(R):5'- TTGACCTGGAGGAGTACAGC -3'

Sequencing Primer
(F):5'- TGTTCTCCAATCCCCGAGG -3'
(R):5'- AGGAGTACAGCCTCTCTCAGTC -3'

Posted On

2019-06-26