Mutagenetix > Incidental Mutation

Incidental Mutation 'R5123:Abca3'

393424

Institutional Source

Beutler Lab

Gene Symbol

Abca3

Ensembl Gene

ENSMUSG00000024130

Gene Name

ATP-binding cassette, sub-family A member 3

Synonyms

Abc3, 1810036E22Rik, ABC-C

MMRRC Submission

042711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24603434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 542 (G542D)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039013
AA Change: G542D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: G542D

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

possibly damaging
Transcript: ENSMUST00000079594
AA Change: G542D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: G542D

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: G542D

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: G542D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh6b	A	G	3: 138,063,450 (GRCm39)	Y343C	probably damaging	Het
Adsl	T	A	15: 80,836,495 (GRCm39)		probably null	Het
Apob	T	A	12: 8,057,630 (GRCm39)		probably null	Het
Atp6ap1l	T	A	13: 91,047,017 (GRCm39)		probably benign	Het
Cacnb3	A	G	15: 98,537,750 (GRCm39)	D74G	probably damaging	Het
Cfap251	A	G	5: 123,411,696 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,512,104 (GRCm39)	D544V	probably damaging	Het
Col3a1	G	A	1: 45,372,756 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,951,397 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,573,637 (GRCm39)	D775G	probably damaging	Het
Eif2b3	T	A	4: 116,879,408 (GRCm39)	M16K	probably damaging	Het
Eml5	T	C	12: 98,840,771 (GRCm39)	Y281C	probably damaging	Het
Epha2	T	A	4: 141,036,176 (GRCm39)	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,391,025 (GRCm39)	I538L	possibly damaging	Het
Gcnt2	T	A	13: 41,071,831 (GRCm39)	V158D	probably damaging	Het
Gnaq	A	G	19: 16,309,449 (GRCm39)	N162S	probably benign	Het
Haus5	A	T	7: 30,353,651 (GRCm39)	N575K	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,174,279 (GRCm39)	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,569 (GRCm39)	D297G	possibly damaging	Het
Net1	C	T	13: 3,936,623 (GRCm39)	R314H	probably damaging	Het
Or4b1c	C	A	2: 90,126,512 (GRCm39)	R231L	probably benign	Het
Or4k51	T	A	2: 111,584,897 (GRCm39)	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,157,979 (GRCm39)	Q586H	probably null	Het
Pramel11	A	T	4: 143,623,706 (GRCm39)	M156K	probably benign	Het
Prss1	A	G	6: 41,440,131 (GRCm39)	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,259 (GRCm39)	N266K	probably damaging	Het
Setd2	G	T	9: 110,446,595 (GRCm39)	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,055,726 (GRCm39)	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,224,262 (GRCm39)	S290*	probably null	Het
Spata6	T	G	4: 111,625,992 (GRCm39)	H120Q	possibly damaging	Het
Stk11	G	A	10: 79,963,775 (GRCm39)	V194I	probably damaging	Het
Tkt	T	C	14: 30,287,603 (GRCm39)	V199A	probably benign	Het
Traf3	G	A	12: 111,209,952 (GRCm39)	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,966,437 (GRCm39)	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,785,215 (GRCm39)		probably benign	Het
Trim59	T	C	3: 68,945,067 (GRCm39)	H91R	probably benign	Het
Ttc21a	A	G	9: 119,781,278 (GRCm39)	S484G	probably benign	Het
Usp13	A	T	3: 32,969,947 (GRCm39)	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243 (GRCm39)	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,790,124 (GRCm39)	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,575,774 (GRCm39)	D215G	possibly damaging	Het
Zfp280b	A	G	10: 75,875,183 (GRCm39)	D354G	probably benign	Het
Zfp607a	A	G	7: 27,578,523 (GRCm39)	H531R	probably damaging	Het
Zfp74	A	T	7: 29,634,158 (GRCm39)	C517S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TATAGTCCTGGGTGCACCTCTC -3'
(R):5'- GCCATATGTAAAGCAGACAGGC -3'

Sequencing Primer
(F):5'- ATGCCATACTGGGTGTACAATG -3'
(R):5'- CACAGATGGCCACAGAGCTAG -3'

Posted On

2016-06-15