Mutagenetix > Incidental Mutation

Incidental Mutation 'R7590:Abca8b'

587368

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

045669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7590 (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 109829341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1373 (T1373S)

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: T1373S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: T1373S

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: T1311S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: T1311S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbox1	A	T	2: 110,098,577 (GRCm39)	N333K	probably benign	Het
Bcl11b	T	A	12: 107,969,402 (GRCm39)	M1L	probably benign	Het
C1s2	T	A	6: 124,609,087 (GRCm39)	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710 (GRCm39)	M384K	probably damaging	Het
Chpt1	A	G	10: 88,316,688 (GRCm39)	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,795,869 (GRCm39)	G731D	probably benign	Het
Dlk2	A	T	17: 46,609,609 (GRCm39)	S21C	probably benign	Het
Ell2	T	C	13: 75,918,854 (GRCm39)	L620P	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,752,435 (GRCm39)	V414A	probably benign	Het
Fmo1	T	A	1: 162,687,251 (GRCm39)		probably benign	Het
Fyb2	A	G	4: 104,802,443 (GRCm39)	N115S	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Hecw1	A	G	13: 14,438,668 (GRCm39)	V905A	probably damaging	Het
Ireb2	T	A	9: 54,803,779 (GRCm39)	V490D	probably benign	Het
Itprid2	G	T	2: 79,488,454 (GRCm39)	V846F	possibly damaging	Het
Lbr	A	G	1: 181,649,076 (GRCm39)	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,409,330 (GRCm39)	D191E	possibly damaging	Het
Mlip	A	T	9: 77,137,325 (GRCm39)	D527E	probably benign	Het
Myom2	A	G	8: 15,167,679 (GRCm39)	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5	G	T	1: 125,954,270 (GRCm39)	Q761K	probably benign	Het
Neb	A	T	2: 52,133,854 (GRCm39)	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693 (GRCm38)	*1116W	probably null	Het
Or2t43	T	C	11: 58,458,085 (GRCm39)	I29V	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
Or5p1	A	T	7: 107,916,386 (GRCm39)	H95L	probably benign	Het
Pak2	A	T	16: 31,871,014 (GRCm39)	I56K	probably benign	Het
Pgm5	T	C	19: 24,686,629 (GRCm39)	Y526C	probably damaging	Het
Phc2	T	A	4: 128,641,820 (GRCm39)	L714H	probably damaging	Het
Phf13	A	T	4: 152,076,232 (GRCm39)	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Rbm6	A	T	9: 107,668,949 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,495,466 (GRCm39)	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,256,398 (GRCm39)	I321F	possibly damaging	Het
Spata9	T	C	13: 76,125,771 (GRCm39)	S85P	possibly damaging	Het
Speer4a2	G	T	5: 26,290,764 (GRCm39)	H136N	possibly damaging	Het
Ssb	G	A	2: 69,697,634 (GRCm39)	A122T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Ten1	T	C	11: 116,096,466 (GRCm39)	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725 (GRCm39)	V358G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,332 (GRCm39)	H195Q	probably benign	Het
Tor4a	A	G	2: 25,085,810 (GRCm39)	V31A	possibly damaging	Het
Trim29	G	A	9: 43,222,788 (GRCm39)	A206T	probably damaging	Het
Trim71	A	C	9: 114,391,893 (GRCm39)	V98G	probably benign	Het
Trpm6	C	G	19: 18,809,945 (GRCm39)	L1114V	probably benign	Het
Usp1	A	G	4: 98,822,489 (GRCm39)	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,485,194 (GRCm39)	I767F	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
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
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'- TTAAATCTGCCCAGCGTCTTG -3'
(R):5'- CAGTGTAAGATGTTGGCACAC -3'

Sequencing Primer
(F):5'- GTCTTGAGCATTTCACCCCAAG -3'
(R):5'- GGCACACAGTTAAAATTCCCTTTGG -3'

Posted On

2019-10-24