Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Abca8b'

307237

Institutional Source

Beutler Lab

Gene Symbol

Abca8b

Ensembl Gene

ENSMUSG00000020620

Gene Name

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

Synonyms

Abca8

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109823016-109886671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109865393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 355 (P355T)

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: P355T

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

SMART Domains

Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: P355T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

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
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	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
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'- TTGCTGCATCCAATCCCATG -3'
(R):5'- CACAGTTGCAAGACATGTTTTG -3'

Sequencing Primer
(F):5'- TGCATCCAATCCCATGAAAGATTTC -3'
(R):5'- AATGAGTGCCTTGGTGAG -3'

Posted On

2015-04-17