Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02049:Abca3'

185025

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 #

IGL02049

Quality Score

Status

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24595704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 352 (C352*)

Ref Sequence

ENSEMBL: ENSMUSP00000113538 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably null
Transcript: ENSMUST00000039013
AA Change: C352*

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: C352*

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: C352*

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: C352*

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 null
Transcript: ENSMUST00000117337
AA Change: C352*

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: C352*

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,254,801 (GRCm39)	R27S	probably benign	Het
4930596D02Rik	C	A	14: 35,533,535 (GRCm39)	V78L	probably benign	Het
Acat3	T	A	17: 13,144,207 (GRCm39)	Y324F	probably benign	Het
Adamts8	T	C	9: 30,862,650 (GRCm39)	V285A	probably damaging	Het
Anpep	A	G	7: 79,484,929 (GRCm39)	I652T	probably damaging	Het
Arhgef6	T	A	X: 56,321,271 (GRCm39)	Q320L	probably damaging	Het
Armh1	A	T	4: 117,094,860 (GRCm39)	I60K	probably benign	Het
Atp11b	T	C	3: 35,854,642 (GRCm39)	V145A	probably damaging	Het
Cacna1c	T	C	6: 118,580,880 (GRCm39)	T1674A	probably benign	Het
Capn2	A	T	1: 182,301,519 (GRCm39)		probably benign	Het
Cfd	A	G	10: 79,726,776 (GRCm39)	Y6C	probably benign	Het
Cps1	A	G	1: 67,183,113 (GRCm39)	K157R	possibly damaging	Het
Csmd3	T	A	15: 47,864,870 (GRCm39)	R786S	possibly damaging	Het
Dna2	A	T	10: 62,792,815 (GRCm39)	I277L	probably damaging	Het
Gm5168	A	T	X: 25,999,005 (GRCm39)	D50E	probably damaging	Het
Grik4	T	A	9: 42,455,049 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,067 (GRCm39)	T520A	probably benign	Het
Iqgap2	A	G	13: 95,811,913 (GRCm39)		probably benign	Het
Klk10	A	T	7: 43,433,882 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,892,187 (GRCm39)	Y250C	probably damaging	Het
Las1l	A	T	X: 94,981,059 (GRCm39)	M690K	probably benign	Het
Mug1	T	A	6: 121,848,295 (GRCm39)	M673K	probably benign	Het
Myh9	T	C	15: 77,654,070 (GRCm39)	H1245R	probably benign	Het
Oprk1	C	T	1: 5,669,067 (GRCm39)	T171I	probably damaging	Het
Pgm5	A	T	19: 24,801,782 (GRCm39)	S149T	probably benign	Het
Pla2g4a	T	C	1: 149,736,847 (GRCm39)	N424S	probably benign	Het
Plec	A	T	15: 76,063,149 (GRCm39)	L2334Q	probably damaging	Het
Pus7l	G	A	15: 94,438,059 (GRCm39)	S262F	probably damaging	Het
Rps24	C	A	14: 24,541,823 (GRCm39)	D3E	probably benign	Het
Rxfp1	T	C	3: 79,557,799 (GRCm39)	N560D	probably damaging	Het
Sema3c	C	T	5: 17,926,923 (GRCm39)		probably benign	Het
Slc47a2	A	G	11: 61,233,365 (GRCm39)	F55S	probably damaging	Het
Slco1a6	A	G	6: 142,047,309 (GRCm39)		probably benign	Het
Taf4b	A	T	18: 14,963,196 (GRCm39)	E645D	probably benign	Het
Tmem161a	T	A	8: 70,631,624 (GRCm39)	V158E	probably damaging	Het
Trav13-2	A	G	14: 53,872,604 (GRCm39)	S27G	possibly damaging	Het
Trav13-2	G	T	14: 53,872,603 (GRCm39)	Q26H	probably damaging	Het
Trav13-2	A	T	14: 53,872,602 (GRCm39)	Q26L	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,608 (GRCm39)	H305L	probably benign	Het
Zfp263	A	G	16: 3,562,482 (GRCm39)	I82V	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
IGL01633:Abca3	APN	17	24,616,327 (GRCm39)	nonsense	probably null
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
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

2014-05-07