Mutagenetix > Incidental Mutations

Incidental Mutation 'R1834:Abca3'

205111

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

039861-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24376692 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 340 (N340Y)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039013
AA Change: N340Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: N340Y

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: N340Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: N340Y

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: N340Y

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: N340Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665	R319G	probably benign	Het
Abcc1	A	G	16: 14,423,117	I513V	possibly damaging	Het
Acacb	C	T	5: 114,235,475	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094		probably benign	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231		probably benign	Het
Afm	T	A	5: 90,526,424	M265K	probably benign	Het
Agl	A	G	3: 116,788,351	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015	A328P	probably damaging	Het
Col4a2	A	G	8: 11,402,997	E188G	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,892,453	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,959,497	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701		probably benign	Het
Dmrt1	A	T	19: 25,509,699	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778		probably benign	Het
Fem1c	C	T	18: 46,505,282	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236		probably benign	Het
Ice1	G	A	13: 70,615,338	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606	R618S	unknown	Het
Itga2	C	A	13: 114,856,726	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941		probably benign	Het
Nsd1	A	G	13: 55,313,351	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945		probably null	Het
Pi16	A	G	17: 29,327,445	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,324,616	Q666H	probably benign	Het
Scn1a	T	A	2: 66,324,617	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,003,153		probably null	Het
Sec14l3	A	G	11: 4,066,510		probably benign	Het
Selp	C	A	1: 164,128,160		probably null	Het
Sim1	A	G	10: 50,909,828	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001		probably benign	Het
Sptbn4	T	A	7: 27,366,646	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,761,481	V610A	probably benign	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225	V356A	possibly damaging	Het
Ttn	T	C	2: 76,732,158	D28781G	probably damaging	Het
Ttn	C	T	2: 76,763,260	V20679I	probably benign	Het
Unc80	A	T	1: 66,639,248	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,506,426	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030		probably benign	Het
Vwa3a	A	G	7: 120,790,136	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887	I593F	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
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
R7931:Abca3	UTSW	17	24384532	missense	probably damaging	1.00
R7942:Abca3	UTSW	17	24384526	missense	probably damaging	1.00
R7960:Abca3	UTSW	17	24384023	nonsense	probably null
R7976:Abca3	UTSW	17	24385466	missense	probably damaging	1.00
R7991:Abca3	UTSW	17	24385853	missense	probably benign	0.09
R7992:Abca3	UTSW	17	24398504	missense	probably damaging	1.00
X0018:Abca3	UTSW	17	24396480	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ACCCTCCTGTTCTGTGTCAAAG -3'
(R):5'- CCTTAGCTGTGCATAAATCCCC -3'

Sequencing Primer
(F):5'- CTTCCATGAGGGCTCTGGAAAG -3'
(R):5'- AGCTGTGCATAAATCCCCTTAGTTTC -3'

Posted On

2014-06-23