Mutagenetix > Incidental Mutation

Incidental Mutation 'R6616:Abca3'

524101

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

044739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6616 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24603509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 567 (H567L)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably damaging
Transcript: ENSMUST00000039013
AA Change: H567L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: H567L

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: H567L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: H567L

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: H567L

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: H567L

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

0.9334

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (51/51)

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
Adck1	T	A	12: 88,427,958 (GRCm39)	M525K	unknown	Het
Alpi	T	C	1: 87,028,836 (GRCm39)	I74V	possibly damaging	Het
Ccdc168	C	A	1: 44,100,634 (GRCm39)	V155L	possibly damaging	Het
Creb5	A	C	6: 53,662,295 (GRCm39)	Q197H	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,306 (GRCm39)	K225R	probably benign	Het
Dock1	G	A	7: 134,710,221 (GRCm39)	E1143K	possibly damaging	Het
Eef2kmt	T	A	16: 5,065,346 (GRCm39)	D287V	probably damaging	Het
Eif2ak4	T	A	2: 118,285,326 (GRCm39)	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,743,850 (GRCm39)	M252K	probably benign	Het
Fnip2	A	C	3: 79,388,189 (GRCm39)	H847Q	probably benign	Het
Frmd3	A	T	4: 74,105,725 (GRCm39)	D457V	probably damaging	Het
Gm13941	T	G	2: 110,931,520 (GRCm39)	E37D	unknown	Het
Grin1	T	A	2: 25,182,122 (GRCm39)	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,709,549 (GRCm39)	D1332E	probably benign	Het
Gtpbp4	G	A	13: 9,039,141 (GRCm39)	T201I	possibly damaging	Het
Heatr4	A	G	12: 84,026,904 (GRCm39)	C118R	probably benign	Het
Hltf	T	A	3: 20,163,651 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,599,008 (GRCm39)		probably null	Het
Hpd	A	T	5: 123,310,123 (GRCm39)	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,514,487 (GRCm39)	I40T	probably benign	Het
Il16	A	G	7: 83,295,684 (GRCm39)	S464P	probably benign	Het
Lrp1b	T	A	2: 40,589,643 (GRCm39)	D75V	unknown	Het
Map3k4	A	T	17: 12,490,231 (GRCm39)	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,529,582 (GRCm39)	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,982,764 (GRCm39)	I1528L	probably benign	Het
Muc4	A	C	16: 32,602,378 (GRCm39)	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,005,091 (GRCm39)	C339S	probably damaging	Het
Ncoa5	A	T	2: 164,852,483 (GRCm39)	Y130*	probably null	Het
Or11g27	T	A	14: 50,771,364 (GRCm39)	I165N	probably benign	Het
Or2y11	T	A	11: 49,442,868 (GRCm39)	V98E	probably damaging	Het
Pcdha4	A	G	18: 37,086,953 (GRCm39)	T379A	probably benign	Het
Pkp4	C	G	2: 59,180,896 (GRCm39)	Y720*	probably null	Het
Prl5a1	C	T	13: 28,333,839 (GRCm39)	T114I	probably benign	Het
Rnd3	A	G	2: 51,024,169 (GRCm39)	S137P	probably damaging	Het
Rtel1	G	A	2: 180,994,579 (GRCm39)	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,452,704 (GRCm39)	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,218,330 (GRCm39)	L233F	unknown	Het
Sec23a	A	T	12: 59,043,941 (GRCm39)	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,610,146 (GRCm39)	S258T	probably damaging	Het
Skint4	A	G	4: 111,975,427 (GRCm39)	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,074,030 (GRCm39)	E1346D	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stpg4	A	G	17: 87,730,124 (GRCm39)	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmc4	A	G	7: 3,674,057 (GRCm39)	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,802,645 (GRCm39)	R47Q	probably damaging	Het
Xirp1	A	G	9: 119,848,080 (GRCm39)	S268P	probably damaging	Het
Zfp990	A	T	4: 145,263,715 (GRCm39)	I238L	probably benign	Het
Zswim5	A	G	4: 116,843,938 (GRCm39)	D992G	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
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
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'- AGACGTTAGGGTCGTGTTCC -3'
(R):5'- CAGGTTTGAGCATTCATAGACAG -3'

Sequencing Primer
(F):5'- ACGTTAGGGTCGTGTTCCAAAGG -3'
(R):5'- TTTGAGCATTCATAGACAGAGGCTG -3'

Posted On

2018-06-22