Mutagenetix > Incidental Mutations

Incidental Mutation 'R8444:Abca3'

654414

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24383985 bp

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]

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: 99.7%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910	I1545K	probably damaging	Het
Abcd2	A	G	15: 91,174,636	V535A	probably benign	Het
Adcy9	T	C	16: 4,288,623	T1113A	probably damaging	Het
Afdn	A	T	17: 13,883,800	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Aldh16a1	G	A	7: 45,149,691	P56S	probably benign	Het
Alpk3	A	C	7: 81,057,720	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492		probably null	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd34	T	A	1: 194,958,500	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104	V557E	probably benign	Het
Chst5	T	C	8: 111,890,763	H75R	probably damaging	Het
Col5a2	A	T	1: 45,396,145	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428	S601R	possibly damaging	Het
Ice1	T	C	13: 70,604,376	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,403,969	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193	S347A		Het
Immt	C	T	6: 71,871,508	R494*	probably null	Het
Irs2	A	G	8: 11,006,683	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260	T2999A		Het
Map3k9	A	G	12: 81,722,196	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pon1	C	T	6: 5,177,327	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699	I35M		Het
Slc8b1	C	T	5: 120,513,138		probably benign	Het
Smr3a	A	C	5: 88,004,752	L8F	unknown	Het
Snx8	G	A	5: 140,358,174	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905		probably null	Het
Tysnd1	A	G	10: 61,696,171	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259	A421E	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
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
R8505:Abca3	UTSW	17	24374497	missense	probably damaging	0.97
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'- TAAGGCTCAGGTCATGTTTTGC -3'
(R):5'- TATACGGTCACAGTGCCACC -3'

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

Posted On

2020-10-20