Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01538:Abca3'

90056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca3

Ensembl Gene

ENSMUSG00000024130

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 3

Synonyms

ABC-C, 1810036E22Rik, Abc3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24376473 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 328 (C328F)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039013] [ENSMUST00000079594] [ENSMUST00000117337]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039013
AA Change: C328F

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: C328F

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	21	469	2.1e-29	PFAM
AAA	558	740	5.17e-10	SMART
Pfam:ABC2_membrane_3	923	1323	1.8e-35	PFAM
AAA	1408	1592	1.64e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079594
AA Change: C328F

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: C328F

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	22	469	2.6e-28	PFAM
AAA	558	740	5.17e-10	SMART
Pfam:ABC2_membrane_3	923	1323	5.5e-39	PFAM
AAA	1408	1592	1.64e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000117337
AA Change: C328F

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: C328F

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	21	469	1.3e-29	PFAM
AAA	558	740	5.17e-10	SMART
Pfam:ABC2_membrane_3	761	1068	8.8e-29	PFAM
AAA	1153	1337	1.64e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149233

Coding Region Coverage

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 full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,872,202		noncoding transcript	Het
Aldh5a1	T	C	13: 24,918,512	N323D	possibly damaging	Het
Atp5c1	T	C	2: 10,068,666	Y32C	probably damaging	Het
Capn3	T	G	2: 120,502,186		probably null	Het
Ccdc113	C	A	8: 95,551,238	D275E	probably benign	Het
Ccdc40	T	A	11: 119,242,719	F562I	possibly damaging	Het
Cd96	T	C	16: 46,109,127	T152A	possibly damaging	Het
Cdh7	T	A	1: 110,061,140	D257E	probably damaging	Het
Cilp2	T	C	8: 69,881,204	D1048G	probably benign	Het
Clrn2	T	G	5: 45,460,066	L93R	probably damaging	Het
Crat	C	A	2: 30,409,966	G134V	probably damaging	Het
Dis3	A	T	14: 99,097,745	N140K	probably benign	Het
Dmxl2	T	A	9: 54,445,376		probably benign	Het
Dus1l	T	A	11: 120,793,079	Q181L	probably damaging	Het
Ece1	A	G	4: 137,948,544	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,048	H90L	probably damaging	Het
Gm16602	G	A	13: 19,336,570		probably benign	Het
Gm1966	T	C	7: 106,602,537	D500G	probably damaging	Het
Gpr152	T	A	19: 4,142,952	V164E	probably damaging	Het
Grik3	A	C	4: 125,694,036	I650L	possibly damaging	Het
Gzmm	A	T	10: 79,695,062	T233S	probably benign	Het
H2-Q4	T	A	17: 35,383,312	V341D	probably benign	Het
Igsf21	A	G	4: 140,027,718		probably benign	Het
Kmt2d	T	C	15: 98,860,657		probably benign	Het
Kntc1	T	G	5: 123,781,658	V864G	probably damaging	Het
Lnx1	T	C	5: 74,620,155	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,097,430	K985N	probably benign	Het
Map4k1	C	A	7: 29,001,619	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,388,974		probably null	Het
Mettl16	T	A	11: 74,792,267	Y178*	probably null	Het
Mrpl11	T	A	19: 4,963,421		probably null	Het
Nup85	T	C	11: 115,569,714	S140P	possibly damaging	Het
Olfr1140	T	C	2: 87,746,598	V134A	probably benign	Het
Olfr1301	T	A	2: 111,755,005	V252E	probably damaging	Het
Olfr301	T	C	7: 86,412,959	L199P	possibly damaging	Het
Olfr352	T	C	2: 36,870,520		probably benign	Het
Pcdhb2	T	A	18: 37,295,322	L116*	probably null	Het
Pdcd7	C	A	9: 65,346,703	R188S	probably damaging	Het
Pdk2	T	C	11: 95,027,285	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,234,021	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,876,635	Y169N	probably damaging	Het
Prcp	A	C	7: 92,910,213	T162P	probably benign	Het
Prkd1	A	G	12: 50,342,142	S873P	probably benign	Het
Ptpn2	T	C	18: 67,681,553	T129A	probably benign	Het
Rtkn	G	A	6: 83,146,061	R68H	probably damaging	Het
Sall4	C	T	2: 168,755,856	D355N	probably damaging	Het
Scn7a	A	G	2: 66,703,852	V493A	probably benign	Het
Sema4b	G	A	7: 80,215,696	A140T	probably damaging	Het
Shisa6	C	A	11: 66,217,828	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,454,164	V197F	probably damaging	Het
Spata2	A	T	2: 167,484,151	D249E	probably damaging	Het
Stk36	T	A	1: 74,633,638	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,343,500	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,537,844	V185D	possibly damaging	Het
Tgm7	T	A	2: 121,106,915	Y76F	probably benign	Het
Tph1	T	C	7: 46,653,753	Y267C	probably damaging	Het
Ube2d1	A	G	10: 71,255,826		probably benign	Het
Vmn2r12	C	A	5: 109,091,850	R282S	probably damaging	Het
Vps4a	A	G	8: 107,036,924	D72G	probably benign	Het
Wipf2	T	A	11: 98,890,803	V56D	possibly damaging	Het
Wisp3	A	G	10: 39,158,310	Y99H	probably damaging	Het
Zfp750	C	A	11: 121,512,165	V586L	probably benign	Het
Zfp831	A	G	2: 174,644,606	E358G	possibly damaging	Het

Other mutations in Abca3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Abca3	APN	17	24374246	missense	probably damaging	1.00
IGL01633:Abca3	APN	17	24397353	nonsense	probably null
IGL01837:Abca3	APN	17	24408697	missense	probably damaging	1.00
IGL01986:Abca3	APN	17	24408114	missense	probably damaging	1.00
IGL02049:Abca3	APN	17	24376730	nonsense	probably null
IGL02186:Abca3	APN	17	24377740	missense	possibly damaging	0.95
IGL02794:Abca3	APN	17	24402411	missense	probably benign	0.05
IGL02962:Abca3	APN	17	24400409	missense	probably damaging	1.00
IGL02963:Abca3	APN	17	24384529	missense	probably damaging	1.00
IGL03118:Abca3	APN	17	24400450	missense	probably benign	0.17
IGL03144:Abca3	APN	17	24381964	missense	probably benign	0.37
R0028:Abca3	UTSW	17	24377724	missense	probably benign	0.39
R0278:Abca3	UTSW	17	24381920	missense	probably benign	0.09
R0570:Abca3	UTSW	17	24374399	missense	probably benign
R0825:Abca3	UTSW	17	24400577	missense	probably damaging	1.00
R1164:Abca3	UTSW	17	24402331	missense	probably damaging	1.00
R1348:Abca3	UTSW	17	24374238	splice site	probably null
R1557:Abca3	UTSW	17	24399980	missense	possibly damaging	0.46
R1661:Abca3	UTSW	17	24377842	missense	probably damaging	0.99
R1665:Abca3	UTSW	17	24377842	missense	probably damaging	0.99
R1754:Abca3	UTSW	17	24377779	missense	probably benign	0.00
R1828:Abca3	UTSW	17	24366197	missense	probably benign	0.34
R1834:Abca3	UTSW	17	24376692	missense	probably benign	0.00
R1996:Abca3	UTSW	17	24387532	missense	probably damaging	1.00
R2032:Abca3	UTSW	17	24366082	splice site	probably benign
R2100:Abca3	UTSW	17	24408209	missense	probably damaging	0.99
R2154:Abca3	UTSW	17	24377719	missense	probably damaging	1.00
R2240:Abca3	UTSW	17	24376443	missense	probably damaging	0.98
R2281:Abca3	UTSW	17	24376726	missense	possibly damaging	0.88
R2994:Abca3	UTSW	17	24384564	missense	probably damaging	1.00
R4091:Abca3	UTSW	17	24397482	missense	probably damaging	1.00
R4294:Abca3	UTSW	17	24400569	missense	possibly damaging	0.96
R4496:Abca3	UTSW	17	24383973	missense	possibly damaging	0.93
R4633:Abca3	UTSW	17	24387529	missense	probably null	1.00
R4866:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5022:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5023:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5072:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5073:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5074:Abca3	UTSW	17	24374300	missense	probably damaging	0.97
R5123:Abca3	UTSW	17	24384460	missense	possibly damaging	0.95
R5157:Abca3	UTSW	17	24408122	missense	probably damaging	1.00
R5183:Abca3	UTSW	17	24374453	missense	probably benign	0.39
R5269:Abca3	UTSW	17	24376743	missense	possibly damaging	0.95
R5566:Abca3	UTSW	17	24383927	missense	probably benign
R5579:Abca3	UTSW	17	24376729	missense	probably damaging	0.97
R5620:Abca3	UTSW	17	24396470	missense	probably benign	0.05
R5755:Abca3	UTSW	17	24398454	missense	probably damaging	1.00
R5954:Abca3	UTSW	17	24397416	missense	probably benign	0.00
R6041:Abca3	UTSW	17	24376380	missense	probably damaging	0.99
R6187:Abca3	UTSW	17	24408167	missense	possibly damaging	0.88
R6253:Abca3	UTSW	17	24397552	missense	probably benign	0.01
R6375:Abca3	UTSW	17	24387562	missense	possibly damaging	0.96
R6487:Abca3	UTSW	17	24397472	missense	possibly damaging	0.81
R6616:Abca3	UTSW	17	24384535	missense	probably damaging	1.00
R6632:Abca3	UTSW	17	24384470	missense	probably benign
R6781:Abca3	UTSW	17	24374406	missense	possibly damaging	0.95
R6918:Abca3	UTSW	17	24408658	missense	probably damaging	1.00
R6962:Abca3	UTSW	17	24364726	missense	probably benign	0.39
R7163:Abca3	UTSW	17	24364942	missense	probably benign
R7199:Abca3	UTSW	17	24377707	missense	probably damaging	1.00
R7287:Abca3	UTSW	17	24385887	missense	possibly damaging	0.91
R7303:Abca3	UTSW	17	24398521	missense	possibly damaging	0.83
R7338:Abca3	UTSW	17	24376743	missense	possibly damaging	0.95
R7430:Abca3	UTSW	17	24364958	critical splice donor site	probably null
R7437:Abca3	UTSW	17	24400498	missense	probably damaging	0.99
R7776:Abca3	UTSW	17	24386276	missense	possibly damaging	0.77
R7805:Abca3	UTSW	17	24405154	critical splice donor site	probably null
R7811:Abca3	UTSW	17	24397388	missense	probably benign	0.00
X0018:Abca3	UTSW	17	24396480	missense	possibly damaging	0.63

Posted On

2013-12-03