Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Abca3'

359891

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24621385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1082 (C1082S)

Ref Sequence

ENSEMBL: ENSMUSP00000113538 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably benign
Transcript: ENSMUST00000039013
AA Change: C1337S

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

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: C1337S

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: C1337S

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

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: C1337S

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
AA Change: C1082S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: C1082S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181014

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly 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
IGL02049:Abca3	APN	17	24,595,704 (GRCm39)	nonsense	probably null
IGL02186:Abca3	APN	17	24,596,714 (GRCm39)	missense	possibly damaging	0.95
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

2015-12-18