Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Abca3'

24498

Institutional Source

Beutler Lab

Gene Symbol

Abca3

Ensembl Gene

ENSMUSG00000024130

Gene Name

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

Synonyms

ABC-C, 1810036E22Rik, Abc3

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24381920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 436 (D436G)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably benign
Transcript: ENSMUST00000039013
AA Change: D436G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: D436G

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

probably benign
Transcript: ENSMUST00000079594
AA Change: D436G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: D436G

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: D436G

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: D436G

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

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

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
Abca13	T	A	11: 9,378,215	S3429R	probably damaging	Het
Acacb	C	A	5: 114,233,259	Y1816*	probably null	Het
Acer3	T	C	7: 98,261,597	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,447,872	I657V	probably benign	Het
Akap1	A	G	11: 88,845,194	V214A	probably benign	Het
Ankrd42	T	C	7: 92,631,657	R22G	possibly damaging	Het
Apc2	C	T	10: 80,312,813	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,454,834	I441T	probably damaging	Het
Cenpu	G	A	8: 46,578,309	A242T	probably damaging	Het
Col6a6	A	T	9: 105,767,288	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,117,531	T58A	probably benign	Het
Ddx6	T	G	9: 44,631,425	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,504,146	N2288K	probably benign	Het
Egfl8	A	T	17: 34,614,368		probably null	Het
Elmo2	A	T	2: 165,297,367	I420N	probably damaging	Het
Elovl4	A	G	9: 83,783,195	F113L	probably benign	Het
Fancd2	T	A	6: 113,548,448		probably null	Het
Fbxl13	A	G	5: 21,523,910	V456A	probably benign	Het
Fgfr2	A	T	7: 130,261,862		probably null	Het
Fkbpl	A	T	17: 34,645,410	R51*	probably null	Het
Fn3krp	G	A	11: 121,421,580	V40M	probably damaging	Het
Fnip1	A	G	11: 54,489,343		probably null	Het
Gm15446	A	T	5: 109,943,415	Q511L	probably benign	Het
Gm7334	A	G	17: 50,699,261	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,473,307	T282S	possibly damaging	Het
Hspa9	A	G	18: 34,940,910	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,013,996	S128T	probably benign	Het
Il7r	A	T	15: 9,516,337	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,570,348	E11G	probably benign	Het
Klkb1	A	C	8: 45,272,409	F498V	probably benign	Het
Lama1	A	G	17: 67,810,183	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,174,435	V71A	probably benign	Het
Lin9	T	C	1: 180,665,923	I198T	probably damaging	Het
Lrrc7	T	A	3: 158,179,795	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,325,387	T519A	probably benign	Het
Olfr1043	A	T	2: 86,162,579	Y123*	probably null	Het
Olfr1247	A	T	2: 89,609,763	L113Q	probably damaging	Het
Olfr1247	G	T	2: 89,609,764	L113M	probably damaging	Het
Olfr1490	C	A	19: 13,654,764	L112I	probably damaging	Het
Olfr1490	T	A	19: 13,654,765	L112H	probably damaging	Het
Olfr412	T	C	11: 74,365,202	F178L	probably damaging	Het
Olfr871	G	T	9: 20,212,886	C179F	probably damaging	Het
Parp4	A	G	14: 56,607,523	R624G	probably damaging	Het
Pex16	C	T	2: 92,381,056	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,439,753	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,800,656	D100N	probably benign	Het
Prss43	T	A	9: 110,827,362	M39K	probably benign	Het
Psd4	T	C	2: 24,394,438	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,817	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rpl10l	A	G	12: 66,284,356	M1T	probably null	Het
Sec16a	A	G	2: 26,428,316	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,374,018	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,088,397	S497T	probably benign	Het
Spata13	A	G	14: 60,692,088	Y365C	probably benign	Het
Trim5	T	C	7: 104,279,675	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,475,024	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,603,006	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,715,717	V198D	probably damaging	Het
Wapl	A	G	14: 34,692,612	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,208,482	H194N	probably benign	Het
Zfp212	C	T	6: 47,926,519	R13W	probably 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
IGL01538:Abca3	APN	17	24376473	missense	possibly damaging	0.64
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
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
R7848:Abca3	UTSW	17	24384532	missense	probably damaging	1.00
R7859:Abca3	UTSW	17	24384526	missense	probably damaging	1.00
R7877:Abca3	UTSW	17	24384023	nonsense	probably null
R7893:Abca3	UTSW	17	24385466	missense	probably damaging	1.00
R7910:Abca3	UTSW	17	24385853	missense	probably benign	0.09
R7911:Abca3	UTSW	17	24398504	missense	probably damaging	1.00
R7964:Abca3	UTSW	17	24402436	missense	probably benign	0.26
R8016:Abca3	UTSW	17	24364952	missense	probably benign	0.06
R8028:Abca3	UTSW	17	24407697	missense	probably benign	0.02
R8150:Abca3	UTSW	17	24396548	missense	probably benign	0.08
R8298:Abca3	UTSW	17	24385401	missense	probably damaging	1.00
R8444:Abca3	UTSW	17	24383985	missense	probably damaging	0.98
R8505:Abca3	UTSW	17	24374497	missense	probably damaging	0.97
R8547:Abca3	UTSW	17	24397500	missense	probably benign	0.00
R8699:Abca3	UTSW	17	24408225	missense	probably benign	0.01
R8903:Abca3	UTSW	17	24383985	missense	probably damaging	0.98
R9046:Abca3	UTSW	17	24398503	missense	probably damaging	1.00
R9136:Abca3	UTSW	17	24377833	missense	probably benign	0.01
R9236:Abca3	UTSW	17	24407738	missense	probably benign	0.16
R9331:Abca3	UTSW	17	24397350	missense	probably benign	0.00
R9585:Abca3	UTSW	17	24400512	missense	probably benign	0.12
R9602:Abca3	UTSW	17	24398404	missense	probably benign	0.35
R9714:Abca3	UTSW	17	24376728	missense	probably benign	0.44
X0018:Abca3	UTSW	17	24396480	missense	possibly damaging	0.63
Z1177:Abca3	UTSW	17	24408236	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGGAATGGGATATAGCACAATTGGTA -3'
(R):5'- GCATCAGCACTCACCATAAGGAAGAA -3'

Sequencing Primer
(F):5'- gctggagccaaaaggattac -3'
(R):5'- TCACCATAAGGAAGAAGTGCC -3'

Posted On

2013-04-16