Mutagenetix > Incidental Mutations

Incidental Mutation 'R8903:Abca3'

678340

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8903 (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 24383985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 518 (Y518C)

Ref Sequence

ENSEMBL: ENSMUSP00000045285 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably damaging
Transcript: ENSMUST00000039013
AA Change: Y518C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: Y518C

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 damaging
Transcript: ENSMUST00000079594
AA Change: Y518C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: Y518C

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: Y518C

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: Y518C

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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110079O15Rik	C	T	1: 87,475,104	T52I	probably damaging	Het
Abca14	T	C	7: 120,216,303	F258S	probably damaging	Het
Ank2	A	T	3: 127,046,782	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,832,821	L989F	probably damaging	Het
Ano6	A	G	15: 95,927,582	R354G	probably benign	Het
Ano8	T	C	8: 71,482,190		probably null	Het
Arfgef1	T	C	1: 10,141,613	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,629,234	G363D	probably benign	Het
Calcrl	T	C	2: 84,373,385		probably null	Het
Cc2d2b	A	T	19: 40,809,282	D782V	unknown	Het
Ccdc162	A	G	10: 41,655,444		probably null	Het
Cdkal1	A	T	13: 29,625,935	*219R	probably null	Het
Clcnkb	A	T	4: 141,407,849	V526D	possibly damaging	Het
Cnbp	A	T	6: 87,844,092	C162S	probably damaging	Het
Coq2	A	G	5: 100,663,790		probably benign	Het
D6Wsu163e	T	A	6: 126,954,815	L270Q	probably damaging	Het
Dnhd1	C	T	7: 105,713,648	Q3806*	probably null	Het
Eepd1	T	C	9: 25,483,222	F261L	probably benign	Het
Fam45a	C	T	19: 60,834,985	Q353*	probably null	Het
Fes	C	T	7: 80,386,811		probably benign	Het
Fsip2	T	A	2: 82,977,337	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gm5113	T	C	7: 30,178,867	F127L	probably benign	Het
Grk3	A	G	5: 112,918,831	S596P	possibly damaging	Het
Gsk3a	A	G	7: 25,237,389	V91A	possibly damaging	Het
Gss	T	C	2: 155,578,359	K141E	probably damaging	Het
Il1rl2	A	T	1: 40,327,370		probably null	Het
Kcnmb1	A	G	11: 33,964,825	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,986,344	I78N	probably damaging	Het
Lrp2	C	T	2: 69,549,038	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,085,059		probably benign	Het
Magel2	G	T	7: 62,379,693	A782S	unknown	Het
Map1b	C	A	13: 99,432,509	E1235*	probably null	Het
Mcpt1	A	C	14: 56,020,063	H222P	probably benign	Het
Met	T	A	6: 17,549,138	N996K	probably benign	Het
Mia	C	A	7: 27,180,805	Q52H	probably damaging	Het
Mia	T	A	7: 27,180,806	Q52L	possibly damaging	Het
Myh7	T	A	14: 54,992,771	K35*	probably null	Het
Myt1l	T	A	12: 29,811,469	D83E	unknown	Het
Nbl1	A	G	4: 139,083,550	V111A	probably damaging	Het
Nid1	T	A	13: 13,463,930	V145D	probably benign	Het
Nif3l1	C	T	1: 58,447,494		probably benign	Het
Npnt	T	C	3: 132,886,003	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,097,893		probably null	Het
Nxpe4	T	A	9: 48,398,950	D504E	probably damaging	Het
Obsl1	A	G	1: 75,487,273	V1696A	possibly damaging	Het
Olfr283	A	T	15: 98,378,594	I172N	probably damaging	Het
Olfr679	A	T	7: 105,086,122	R135S	possibly damaging	Het
P2rx1	A	T	11: 73,009,995	H224L	probably benign	Het
Pald1	A	T	10: 61,347,036		probably null	Het
Pard6g	C	T	18: 80,117,196	R175*	probably null	Het
Pisd	A	G	5: 32,738,411	I271T	probably benign	Het
Prrt3	T	C	6: 113,495,835	S459G	probably damaging	Het
Psd3	A	T	8: 67,713,293	C328S	unknown	Het
Psme1	A	G	14: 55,580,396	E120G		Het
Pum3	A	T	19: 27,420,057	M306K	possibly damaging	Het
Pxdn	T	C	12: 29,990,993	F423L	probably benign	Het
Rac3	A	G	11: 120,723,245	D118G	probably damaging	Het
Rnf14	A	G	18: 38,313,214	K357E	probably benign	Het
Rpl23a	T	C	11: 78,182,894	I40V	probably benign	Het
Slc5a5	A	T	8: 70,892,583	S27T	probably damaging	Het
Slc7a14	A	T	3: 31,223,446	L670Q	probably damaging	Het
Sst	T	A	16: 23,889,749	K111*	probably null	Het
Stxbp4	A	G	11: 90,535,441	S514P	unknown	Het
Susd1	T	A	4: 59,390,576	T300S	probably benign	Het
Tecpr1	C	T	5: 144,214,027		probably benign	Het
Tmem185b	C	T	1: 119,526,468		probably benign	Het
Tor2a	T	A	2: 32,761,687	F305I	probably damaging	Het
Ttk	T	A	9: 83,868,060	D689E	probably damaging	Het
Usp25	A	G	16: 77,081,533	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,806,514	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,182,094	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104	E636*	probably null	Het
Wdr53	T	A	16: 32,252,312	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,137,081	V80A	probably damaging	Het
Zcchc11	A	T	4: 108,479,211	D44V	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
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
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
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
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'- CATGTTCAGTGGGTCAATGGTAC -3'
(R):5'- TATACGGTCACAGTGCCACC -3'

Sequencing Primer
(F):5'- GGTACTTATTTTGTTGGTTGCAAAC -3'
(R):5'- CAGCATGTGGCCAGATGTG -3'

Posted On

2021-08-02