Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Abca3'

93624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca3

Ensembl Gene

ENSMUSG00000024130

Gene Name

ATP-binding cassette, sub-family A member 3

Synonyms

Abc3, 1810036E22Rik, ABC-C

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24616327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 923 (W923*)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably null
Transcript: ENSMUST00000039013
AA Change: W923*

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: W923*

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 null
Transcript: ENSMUST00000079594
AA Change: W923*

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: W923*

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

probably benign
Transcript: ENSMUST00000117337

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130

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: ENSMUST00000148557

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,334,406 (GRCm39)	S1868T	possibly damaging	Het
Abca8b	A	G	11: 109,827,580 (GRCm39)	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,498,163 (GRCm39)	F729S	probably damaging	Het
Acacb	T	C	5: 114,356,919 (GRCm39)		probably benign	Het
Aldh3a2	A	G	11: 61,139,731 (GRCm39)	L467P	probably benign	Het
Appl1	T	C	14: 26,684,795 (GRCm39)	T85A	probably damaging	Het
Aspm	T	A	1: 139,408,574 (GRCm39)	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,159,290 (GRCm39)	V23I	probably benign	Het
C2cd2	T	A	16: 97,676,323 (GRCm39)		probably benign	Het
Carmil3	A	T	14: 55,731,684 (GRCm39)	H170L	possibly damaging	Het
Ccdc141	C	T	2: 76,919,593 (GRCm39)	V305I	probably benign	Het
Ccdc174	G	A	6: 91,857,343 (GRCm39)		probably null	Het
Cep126	T	G	9: 8,103,320 (GRCm39)	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,655,859 (GRCm39)	I188T	probably benign	Het
Depdc5	T	C	5: 33,081,544 (GRCm39)	S569P	probably damaging	Het
Drc1	G	A	5: 30,503,007 (GRCm39)	E177K	probably damaging	Het
Duox1	A	G	2: 122,164,279 (GRCm39)	E913G	probably benign	Het
Fbxw9	T	C	8: 85,791,055 (GRCm39)	S241P	probably damaging	Het
Fez2	C	A	17: 78,712,147 (GRCm39)		probably benign	Het
Fga	G	T	3: 82,937,606 (GRCm39)	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,320,533 (GRCm39)	G293*	probably null	Het
Gfra1	C	T	19: 58,255,479 (GRCm39)	E318K	probably benign	Het
Gli3	C	T	13: 15,823,219 (GRCm39)	P314S	probably damaging	Het
Gm5114	A	T	7: 39,057,490 (GRCm39)	S710T	probably benign	Het
Gpr141	T	C	13: 19,936,769 (GRCm39)	D2G	probably benign	Het
Inppl1	G	A	7: 101,483,041 (GRCm39)	Q63*	probably null	Het
Lrrc73	T	A	17: 46,566,657 (GRCm39)	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,824,615 (GRCm39)	R304Q	probably benign	Het
Macf1	T	C	4: 123,395,964 (GRCm39)	D788G	probably damaging	Het
Nbas	T	A	12: 13,533,898 (GRCm39)	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,382,161 (GRCm39)	F73L	probably damaging	Het
Osmr	A	T	15: 6,854,085 (GRCm39)	I541N	probably damaging	Het
Phrf1	A	G	7: 140,840,413 (GRCm39)	I1203V	probably benign	Het
Pram1	C	A	17: 33,861,109 (GRCm39)	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,379,444 (GRCm39)	Y415H	probably benign	Het
Prss27	A	T	17: 24,264,650 (GRCm39)	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,510,989 (GRCm39)	S287G	probably benign	Het
Ptprq	T	C	10: 107,535,584 (GRCm39)		probably benign	Het
Sars2	A	G	7: 28,446,974 (GRCm39)	K218E	probably benign	Het
Senp6	G	T	9: 79,999,676 (GRCm39)	S31I	probably damaging	Het
Shld2	G	T	14: 33,971,136 (GRCm39)	T31K	probably damaging	Het
Skint6	C	A	4: 113,095,246 (GRCm39)	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,685,128 (GRCm39)	H168N	probably damaging	Het
Tbx15	T	G	3: 99,220,358 (GRCm39)	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,959,125 (GRCm39)	N103D	probably benign	Het
Tmc5	A	G	7: 118,222,809 (GRCm39)	N170D	probably damaging	Het
Tmem108	A	T	9: 103,361,950 (GRCm39)	N545K	probably benign	Het
Trub1	A	G	19: 57,441,616 (GRCm39)	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,302,923 (GRCm39)	Y299N	probably damaging	Het

Other mutations in Abca3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Abca3	APN	17	24,593,220 (GRCm39)	missense	probably damaging	1.00
IGL01538:Abca3	APN	17	24,595,447 (GRCm39)	missense	possibly damaging	0.64
IGL01837:Abca3	APN	17	24,627,671 (GRCm39)	missense	probably damaging	1.00
IGL01986:Abca3	APN	17	24,627,088 (GRCm39)	missense	probably damaging	1.00
IGL02049:Abca3	APN	17	24,595,704 (GRCm39)	nonsense	probably null
IGL02186:Abca3	APN	17	24,596,714 (GRCm39)	missense	possibly damaging	0.95
IGL02794:Abca3	APN	17	24,621,385 (GRCm39)	missense	probably benign	0.05
IGL02962:Abca3	APN	17	24,619,383 (GRCm39)	missense	probably damaging	1.00
IGL02963:Abca3	APN	17	24,603,503 (GRCm39)	missense	probably damaging	1.00
IGL03118:Abca3	APN	17	24,619,424 (GRCm39)	missense	probably benign	0.17
IGL03144:Abca3	APN	17	24,600,938 (GRCm39)	missense	probably benign	0.37
R0028:Abca3	UTSW	17	24,596,698 (GRCm39)	missense	probably benign	0.39
R0278:Abca3	UTSW	17	24,600,894 (GRCm39)	missense	probably benign	0.09
R0570:Abca3	UTSW	17	24,593,373 (GRCm39)	missense	probably benign
R0825:Abca3	UTSW	17	24,619,551 (GRCm39)	missense	probably damaging	1.00
R1164:Abca3	UTSW	17	24,621,305 (GRCm39)	missense	probably damaging	1.00
R1348:Abca3	UTSW	17	24,593,212 (GRCm39)	splice site	probably null
R1557:Abca3	UTSW	17	24,618,954 (GRCm39)	missense	possibly damaging	0.46
R1661:Abca3	UTSW	17	24,596,816 (GRCm39)	missense	probably damaging	0.99
R1665:Abca3	UTSW	17	24,596,816 (GRCm39)	missense	probably damaging	0.99
R1754:Abca3	UTSW	17	24,596,753 (GRCm39)	missense	probably benign	0.00
R1828:Abca3	UTSW	17	24,585,171 (GRCm39)	missense	probably benign	0.34
R1834:Abca3	UTSW	17	24,595,666 (GRCm39)	missense	probably benign	0.00
R1996:Abca3	UTSW	17	24,606,506 (GRCm39)	missense	probably damaging	1.00
R2032:Abca3	UTSW	17	24,585,056 (GRCm39)	splice site	probably benign
R2100:Abca3	UTSW	17	24,627,183 (GRCm39)	missense	probably damaging	0.99
R2154:Abca3	UTSW	17	24,596,693 (GRCm39)	missense	probably damaging	1.00
R2240:Abca3	UTSW	17	24,595,417 (GRCm39)	missense	probably damaging	0.98
R2281:Abca3	UTSW	17	24,595,700 (GRCm39)	missense	possibly damaging	0.88
R2994:Abca3	UTSW	17	24,603,538 (GRCm39)	missense	probably damaging	1.00
R4091:Abca3	UTSW	17	24,616,456 (GRCm39)	missense	probably damaging	1.00
R4294:Abca3	UTSW	17	24,619,543 (GRCm39)	missense	possibly damaging	0.96
R4496:Abca3	UTSW	17	24,602,947 (GRCm39)	missense	possibly damaging	0.93
R4633:Abca3	UTSW	17	24,606,503 (GRCm39)	missense	probably null	1.00
R4866:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5022:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5023:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5072:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5073:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5074:Abca3	UTSW	17	24,593,274 (GRCm39)	missense	probably damaging	0.97
R5123:Abca3	UTSW	17	24,603,434 (GRCm39)	missense	possibly damaging	0.95
R5157:Abca3	UTSW	17	24,627,096 (GRCm39)	missense	probably damaging	1.00
R5183:Abca3	UTSW	17	24,593,427 (GRCm39)	missense	probably benign	0.39
R5269:Abca3	UTSW	17	24,595,717 (GRCm39)	missense	possibly damaging	0.95
R5566:Abca3	UTSW	17	24,602,901 (GRCm39)	missense	probably benign
R5579:Abca3	UTSW	17	24,595,703 (GRCm39)	missense	probably damaging	0.97
R5620:Abca3	UTSW	17	24,615,444 (GRCm39)	missense	probably benign	0.05
R5755:Abca3	UTSW	17	24,617,428 (GRCm39)	missense	probably damaging	1.00
R5954:Abca3	UTSW	17	24,616,390 (GRCm39)	missense	probably benign	0.00
R6041:Abca3	UTSW	17	24,595,354 (GRCm39)	missense	probably damaging	0.99
R6187:Abca3	UTSW	17	24,627,141 (GRCm39)	missense	possibly damaging	0.88
R6253:Abca3	UTSW	17	24,616,526 (GRCm39)	missense	probably benign	0.01
R6375:Abca3	UTSW	17	24,606,536 (GRCm39)	missense	possibly damaging	0.96
R6487:Abca3	UTSW	17	24,616,446 (GRCm39)	missense	possibly damaging	0.81
R6616:Abca3	UTSW	17	24,603,509 (GRCm39)	missense	probably damaging	1.00
R6632:Abca3	UTSW	17	24,603,444 (GRCm39)	missense	probably benign
R6781:Abca3	UTSW	17	24,593,380 (GRCm39)	missense	possibly damaging	0.95
R6918:Abca3	UTSW	17	24,627,632 (GRCm39)	missense	probably damaging	1.00
R6962:Abca3	UTSW	17	24,583,700 (GRCm39)	missense	probably benign	0.39
R7163:Abca3	UTSW	17	24,583,916 (GRCm39)	missense	probably benign
R7199:Abca3	UTSW	17	24,596,681 (GRCm39)	missense	probably damaging	1.00
R7287:Abca3	UTSW	17	24,604,861 (GRCm39)	missense	possibly damaging	0.91
R7303:Abca3	UTSW	17	24,617,495 (GRCm39)	missense	possibly damaging	0.83
R7338:Abca3	UTSW	17	24,595,717 (GRCm39)	missense	possibly damaging	0.95
R7430:Abca3	UTSW	17	24,583,932 (GRCm39)	critical splice donor site	probably null
R7437:Abca3	UTSW	17	24,619,472 (GRCm39)	missense	probably damaging	0.99
R7776:Abca3	UTSW	17	24,605,250 (GRCm39)	missense	possibly damaging	0.77
R7805:Abca3	UTSW	17	24,624,128 (GRCm39)	critical splice donor site	probably null
R7811:Abca3	UTSW	17	24,616,362 (GRCm39)	missense	probably benign	0.00
R7848:Abca3	UTSW	17	24,603,506 (GRCm39)	missense	probably damaging	1.00
R7859:Abca3	UTSW	17	24,603,500 (GRCm39)	missense	probably damaging	1.00
R7877:Abca3	UTSW	17	24,602,997 (GRCm39)	nonsense	probably null
R7893:Abca3	UTSW	17	24,604,440 (GRCm39)	missense	probably damaging	1.00
R7910:Abca3	UTSW	17	24,604,827 (GRCm39)	missense	probably benign	0.09
R7911:Abca3	UTSW	17	24,617,478 (GRCm39)	missense	probably damaging	1.00
R7964:Abca3	UTSW	17	24,621,410 (GRCm39)	missense	probably benign	0.26
R8016:Abca3	UTSW	17	24,583,926 (GRCm39)	missense	probably benign	0.06
R8028:Abca3	UTSW	17	24,626,671 (GRCm39)	missense	probably benign	0.02
R8150:Abca3	UTSW	17	24,615,522 (GRCm39)	missense	probably benign	0.08
R8298:Abca3	UTSW	17	24,604,375 (GRCm39)	missense	probably damaging	1.00
R8444:Abca3	UTSW	17	24,602,959 (GRCm39)	missense	probably damaging	0.98
R8505:Abca3	UTSW	17	24,593,471 (GRCm39)	missense	probably damaging	0.97
R8547:Abca3	UTSW	17	24,616,474 (GRCm39)	missense	probably benign	0.00
R8699:Abca3	UTSW	17	24,627,199 (GRCm39)	missense	probably benign	0.01
R8903:Abca3	UTSW	17	24,602,959 (GRCm39)	missense	probably damaging	0.98
R9046:Abca3	UTSW	17	24,617,477 (GRCm39)	missense	probably damaging	1.00
R9136:Abca3	UTSW	17	24,596,807 (GRCm39)	missense	probably benign	0.01
R9236:Abca3	UTSW	17	24,626,712 (GRCm39)	missense	probably benign	0.16
R9331:Abca3	UTSW	17	24,616,324 (GRCm39)	missense	probably benign	0.00
R9585:Abca3	UTSW	17	24,619,486 (GRCm39)	missense	probably benign	0.12
R9602:Abca3	UTSW	17	24,617,378 (GRCm39)	missense	probably benign	0.35
R9714:Abca3	UTSW	17	24,595,702 (GRCm39)	missense	probably benign	0.44
X0018:Abca3	UTSW	17	24,615,454 (GRCm39)	missense	possibly damaging	0.63
Z1177:Abca3	UTSW	17	24,627,210 (GRCm39)	frame shift	probably null

Posted On

2013-12-09