Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Abca3'

566123

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

045321-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24385887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 656 (D656G)

Ref Sequence

ENSEMBL: ENSMUSP00000045285 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039013
AA Change: D656G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: D656G

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: D656G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: D656G

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: D656G

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: D656G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,883	R1059H	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abcc8	T	C	7: 46,113,110	H1209R	probably damaging	Het
Adam26a	T	C	8: 43,570,343	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,890,003	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,433,436	N191K	probably benign	Het
Ankrd26	C	T	6: 118,549,637		probably null	Het
Ap5z1	T	C	5: 142,474,047	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,152,697	D77G		Het
Atp10a	T	A	7: 58,827,269	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,628,970	L275P	probably damaging	Het
Cab39	A	G	1: 85,818,461	E21G	probably benign	Het
Capn15	G	T	17: 25,960,455	S948R	probably damaging	Het
Cbarp	T	C	10: 80,137,320	T15A	unknown	Het
Ccdc81	C	T	7: 89,893,123	A182T	probably damaging	Het
Ccpg1	A	G	9: 73,015,406	H766R	probably benign	Het
Cfl1	T	C	19: 5,492,534	V14A	probably benign	Het
Chd6	A	G	2: 161,008,392	I875T	probably benign	Het
Cidec	T	A	6: 113,428,398	E121D	probably benign	Het
Clpx	C	A	9: 65,300,013	Y64*	probably null	Het
Cntn1	T	A	15: 92,245,952		probably null	Het
Cyp24a1	A	G	2: 170,485,906	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,516,686	D159E	probably benign	Het
Emp1	T	C	6: 135,380,169	F82L	probably benign	Het
Fem1b	T	C	9: 62,796,122	T619A	probably benign	Het
Fgf15	A	T	7: 144,896,794	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525	F221V	probably damaging	Het
Herc6	A	G	6: 57,651,980		probably null	Het
Hspg2	G	A	4: 137,529,556	V1537I	probably benign	Het
Ido2	T	C	8: 24,535,138		probably null	Het
Insr	G	A	8: 3,169,717	T935I	probably benign	Het
Itgax	G	A	7: 128,148,505	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,804,501	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,216,016	Y292N	probably benign	Het
Mrpl37	A	G	4: 107,060,520	F318S	probably damaging	Het
Nav2	A	G	7: 49,420,328	N311D	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrp9b	T	C	7: 20,028,456	C673R	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Olfr1335	T	A	4: 118,809,742	T41S	probably benign	Het
Olfr378	T	A	11: 73,425,843	I47F	probably benign	Het
Plce1	A	T	19: 38,701,903	Q677L	probably benign	Het
Pmel	C	T	10: 128,715,226	Q113*	probably null	Het
Pom121l2	T	A	13: 21,984,332	F924L	probably benign	Het
Poteg	G	A	8: 27,453,344	R214K	probably null	Het
Pprc1	G	T	19: 46,071,354	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,740,369	S1056P	probably benign	Het
Selenoo	T	C	15: 89,098,700	F477L	probably benign	Het
Senp2	A	G	16: 22,018,364	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,645,355	D211G	probably benign	Het
Slc44a2	A	G	9: 21,342,456	D131G	probably benign	Het
Tcf25	G	A	8: 123,373,972	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,217,379	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem132d	G	T	5: 127,984,351	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,690,563	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,879,541	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,633,725		probably null	Het
Ttyh1	T	C	7: 4,125,658	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,258,216	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,852,081	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 85,222,252	T608A	probably benign	Het
Vwf	A	G	6: 125,637,467	I1104V		Het
Zbtb2	C	T	10: 4,368,986	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,718,256	S543T	probably benign	Het
Zhx1	T	C	15: 58,053,296	N518S	probably damaging	Het
Zmym6	T	C	4: 127,122,982	V852A	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
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
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
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'- AAGCAGAGTCCAGGAATGCC -3'
(R):5'- TGGCCTTCTGCAGCTTCATTAG -3'

Sequencing Primer
(F):5'- ATGCCAAGGGAAGACATCTC -3'
(R):5'- GGCCTTCTGCAGCTTCATTAGATAAG -3'

Posted On

2019-06-26