Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:Abca3'

525256

Institutional Source

Beutler Lab

Gene Symbol

Abca3

Ensembl Gene

ENSMUSG00000024130

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 3

Synonyms

ABC-C, 1810036E22Rik, Abc3

MMRRC Submission

044754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24351950-24410201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 24384470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 545 (D545E)

Ref Sequence

ENSEMBL: ENSMUSP00000078544 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably benign
Transcript: ENSMUST00000039013
AA Change: D545E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: D545E

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: D545E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: D545E

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: D545E

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: D545E

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

0.0758

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,067 (GRCm38)	S758P	possibly damaging	Het
Akap9	T	A	5: 4,013,842 (GRCm38)		probably null	Het
Akr1b3	C	T	6: 34,310,004 (GRCm38)	V206M	possibly damaging	Het
Arpp21	G	A	9: 112,127,356 (GRCm38)	Q518*	probably null	Het
Atp9b	G	A	18: 80,808,649 (GRCm38)	R410W	probably damaging	Het
Cacna2d3	T	C	14: 28,905,265 (GRCm38)	*265W	probably null	Het
Ccdc96	G	A	5: 36,485,189 (GRCm38)	E180K	probably benign	Het
Cep164	T	C	9: 45,779,790 (GRCm38)	K1231E	possibly damaging	Het
Cnot1	A	G	8: 95,773,267 (GRCm38)		probably benign	Het
Cpne2	T	C	8: 94,554,955 (GRCm38)	V206A	probably benign	Het
Dchs1	A	G	7: 105,761,878 (GRCm38)	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,170,333 (GRCm38)	T590A	probably benign	Het
Eif4g1	A	T	16: 20,685,520 (GRCm38)	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,366,587 (GRCm38)	K639N	probably damaging	Het
Gcc2	A	G	10: 58,270,049 (GRCm38)		probably null	Het
Gm35315	A	C	5: 110,079,263 (GRCm38)	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,179,102 (GRCm38)	K578R	possibly damaging	Het
Ice2	T	C	9: 69,428,452 (GRCm38)	S906P	probably benign	Het
Irx4	G	T	13: 73,268,426 (GRCm38)	A314S	probably benign	Het
Lama5	G	A	2: 180,191,662 (GRCm38)	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,725,442 (GRCm38)	W3650R	probably benign	Het
Mcoln3	C	T	3: 146,128,187 (GRCm38)	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,385,819 (GRCm38)	M368K	probably damaging	Het
Msh2	A	C	17: 87,712,666 (GRCm38)	K567Q	possibly damaging	Het
N4bp3	T	C	11: 51,643,949 (GRCm38)	E429G	possibly damaging	Het
Nrxn3	G	A	12: 89,193,154 (GRCm38)	A17T	probably damaging	Het
Olfr1459	T	A	19: 13,146,188 (GRCm38)	Y157F	probably benign	Het
Olfr171	T	C	16: 19,625,023 (GRCm38)	T26A	probably benign	Het
P4ha2	G	T	11: 54,117,648 (GRCm38)	R227L	probably benign	Het
Pfkfb4	G	A	9: 109,009,562 (GRCm38)		probably null	Het
Ror1	A	G	4: 100,442,106 (GRCm38)	N892S	probably benign	Het
Scn9a	G	T	2: 66,483,502 (GRCm38)	D1957E	probably benign	Het
Sec24a	A	T	11: 51,713,649 (GRCm38)	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,087,455 (GRCm38)	F70I	probably damaging	Het
Setdb1	T	C	3: 95,324,149 (GRCm38)	Y1284C	probably damaging	Het
Suco	A	T	1: 161,828,240 (GRCm38)	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,215,667 (GRCm38)		probably null	Het

Other mutations in Abca3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Abca3	APN	17	24,374,246 (GRCm38)	missense	probably damaging	1.00
IGL01538:Abca3	APN	17	24,376,473 (GRCm38)	missense	possibly damaging	0.64
IGL01633:Abca3	APN	17	24,397,353 (GRCm38)	nonsense	probably null
IGL01837:Abca3	APN	17	24,408,697 (GRCm38)	missense	probably damaging	1.00
IGL01986:Abca3	APN	17	24,408,114 (GRCm38)	missense	probably damaging	1.00
IGL02049:Abca3	APN	17	24,376,730 (GRCm38)	nonsense	probably null
IGL02186:Abca3	APN	17	24,377,740 (GRCm38)	missense	possibly damaging	0.95
IGL02794:Abca3	APN	17	24,402,411 (GRCm38)	missense	probably benign	0.05
IGL02962:Abca3	APN	17	24,400,409 (GRCm38)	missense	probably damaging	1.00
IGL02963:Abca3	APN	17	24,384,529 (GRCm38)	missense	probably damaging	1.00
IGL03118:Abca3	APN	17	24,400,450 (GRCm38)	missense	probably benign	0.17
IGL03144:Abca3	APN	17	24,381,964 (GRCm38)	missense	probably benign	0.37
R0028:Abca3	UTSW	17	24,377,724 (GRCm38)	missense	probably benign	0.39
R0278:Abca3	UTSW	17	24,381,920 (GRCm38)	missense	probably benign	0.09
R0570:Abca3	UTSW	17	24,374,399 (GRCm38)	missense	probably benign
R0825:Abca3	UTSW	17	24,400,577 (GRCm38)	missense	probably damaging	1.00
R1164:Abca3	UTSW	17	24,402,331 (GRCm38)	missense	probably damaging	1.00
R1348:Abca3	UTSW	17	24,374,238 (GRCm38)	splice site	probably null
R1557:Abca3	UTSW	17	24,399,980 (GRCm38)	missense	possibly damaging	0.46
R1661:Abca3	UTSW	17	24,377,842 (GRCm38)	missense	probably damaging	0.99
R1665:Abca3	UTSW	17	24,377,842 (GRCm38)	missense	probably damaging	0.99
R1754:Abca3	UTSW	17	24,377,779 (GRCm38)	missense	probably benign	0.00
R1828:Abca3	UTSW	17	24,366,197 (GRCm38)	missense	probably benign	0.34
R1834:Abca3	UTSW	17	24,376,692 (GRCm38)	missense	probably benign	0.00
R1996:Abca3	UTSW	17	24,387,532 (GRCm38)	missense	probably damaging	1.00
R2032:Abca3	UTSW	17	24,366,082 (GRCm38)	splice site	probably benign
R2100:Abca3	UTSW	17	24,408,209 (GRCm38)	missense	probably damaging	0.99
R2154:Abca3	UTSW	17	24,377,719 (GRCm38)	missense	probably damaging	1.00
R2240:Abca3	UTSW	17	24,376,443 (GRCm38)	missense	probably damaging	0.98
R2281:Abca3	UTSW	17	24,376,726 (GRCm38)	missense	possibly damaging	0.88
R2994:Abca3	UTSW	17	24,384,564 (GRCm38)	missense	probably damaging	1.00
R4091:Abca3	UTSW	17	24,397,482 (GRCm38)	missense	probably damaging	1.00
R4294:Abca3	UTSW	17	24,400,569 (GRCm38)	missense	possibly damaging	0.96
R4496:Abca3	UTSW	17	24,383,973 (GRCm38)	missense	possibly damaging	0.93
R4633:Abca3	UTSW	17	24,387,529 (GRCm38)	missense	probably null	1.00
R4866:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5022:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5023:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5072:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5073:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5074:Abca3	UTSW	17	24,374,300 (GRCm38)	missense	probably damaging	0.97
R5123:Abca3	UTSW	17	24,384,460 (GRCm38)	missense	possibly damaging	0.95
R5157:Abca3	UTSW	17	24,408,122 (GRCm38)	missense	probably damaging	1.00
R5183:Abca3	UTSW	17	24,374,453 (GRCm38)	missense	probably benign	0.39
R5269:Abca3	UTSW	17	24,376,743 (GRCm38)	missense	possibly damaging	0.95
R5566:Abca3	UTSW	17	24,383,927 (GRCm38)	missense	probably benign
R5579:Abca3	UTSW	17	24,376,729 (GRCm38)	missense	probably damaging	0.97
R5620:Abca3	UTSW	17	24,396,470 (GRCm38)	missense	probably benign	0.05
R5755:Abca3	UTSW	17	24,398,454 (GRCm38)	missense	probably damaging	1.00
R5954:Abca3	UTSW	17	24,397,416 (GRCm38)	missense	probably benign	0.00
R6041:Abca3	UTSW	17	24,376,380 (GRCm38)	missense	probably damaging	0.99
R6187:Abca3	UTSW	17	24,408,167 (GRCm38)	missense	possibly damaging	0.88
R6253:Abca3	UTSW	17	24,397,552 (GRCm38)	missense	probably benign	0.01
R6375:Abca3	UTSW	17	24,387,562 (GRCm38)	missense	possibly damaging	0.96
R6487:Abca3	UTSW	17	24,397,472 (GRCm38)	missense	possibly damaging	0.81
R6616:Abca3	UTSW	17	24,384,535 (GRCm38)	missense	probably damaging	1.00
R6781:Abca3	UTSW	17	24,374,406 (GRCm38)	missense	possibly damaging	0.95
R6918:Abca3	UTSW	17	24,408,658 (GRCm38)	missense	probably damaging	1.00
R6962:Abca3	UTSW	17	24,364,726 (GRCm38)	missense	probably benign	0.39
R7163:Abca3	UTSW	17	24,364,942 (GRCm38)	missense	probably benign
R7199:Abca3	UTSW	17	24,377,707 (GRCm38)	missense	probably damaging	1.00
R7287:Abca3	UTSW	17	24,385,887 (GRCm38)	missense	possibly damaging	0.91
R7303:Abca3	UTSW	17	24,398,521 (GRCm38)	missense	possibly damaging	0.83
R7338:Abca3	UTSW	17	24,376,743 (GRCm38)	missense	possibly damaging	0.95
R7430:Abca3	UTSW	17	24,364,958 (GRCm38)	critical splice donor site	probably null
R7437:Abca3	UTSW	17	24,400,498 (GRCm38)	missense	probably damaging	0.99
R7776:Abca3	UTSW	17	24,386,276 (GRCm38)	missense	possibly damaging	0.77
R7805:Abca3	UTSW	17	24,405,154 (GRCm38)	critical splice donor site	probably null
R7811:Abca3	UTSW	17	24,397,388 (GRCm38)	missense	probably benign	0.00
R7848:Abca3	UTSW	17	24,384,532 (GRCm38)	missense	probably damaging	1.00
R7859:Abca3	UTSW	17	24,384,526 (GRCm38)	missense	probably damaging	1.00
R7877:Abca3	UTSW	17	24,384,023 (GRCm38)	nonsense	probably null
R7893:Abca3	UTSW	17	24,385,466 (GRCm38)	missense	probably damaging	1.00
R7910:Abca3	UTSW	17	24,385,853 (GRCm38)	missense	probably benign	0.09
R7911:Abca3	UTSW	17	24,398,504 (GRCm38)	missense	probably damaging	1.00
R7964:Abca3	UTSW	17	24,402,436 (GRCm38)	missense	probably benign	0.26
R8016:Abca3	UTSW	17	24,364,952 (GRCm38)	missense	probably benign	0.06
R8028:Abca3	UTSW	17	24,407,697 (GRCm38)	missense	probably benign	0.02
R8150:Abca3	UTSW	17	24,396,548 (GRCm38)	missense	probably benign	0.08
R8298:Abca3	UTSW	17	24,385,401 (GRCm38)	missense	probably damaging	1.00
R8444:Abca3	UTSW	17	24,383,985 (GRCm38)	missense	probably damaging	0.98
R8505:Abca3	UTSW	17	24,374,497 (GRCm38)	missense	probably damaging	0.97
R8547:Abca3	UTSW	17	24,397,500 (GRCm38)	missense	probably benign	0.00
R8699:Abca3	UTSW	17	24,408,225 (GRCm38)	missense	probably benign	0.01
R8903:Abca3	UTSW	17	24,383,985 (GRCm38)	missense	probably damaging	0.98
R9046:Abca3	UTSW	17	24,398,503 (GRCm38)	missense	probably damaging	1.00
R9136:Abca3	UTSW	17	24,377,833 (GRCm38)	missense	probably benign	0.01
R9236:Abca3	UTSW	17	24,407,738 (GRCm38)	missense	probably benign	0.16
R9331:Abca3	UTSW	17	24,397,350 (GRCm38)	missense	probably benign	0.00
R9585:Abca3	UTSW	17	24,400,512 (GRCm38)	missense	probably benign	0.12
R9602:Abca3	UTSW	17	24,398,404 (GRCm38)	missense	probably benign	0.35
R9714:Abca3	UTSW	17	24,376,728 (GRCm38)	missense	probably benign	0.44
X0018:Abca3	UTSW	17	24,396,480 (GRCm38)	missense	possibly damaging	0.63
Z1177:Abca3	UTSW	17	24,408,236 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGATATAACCTCTGCCCCAC -3'
(R):5'- CATCGGCTCCTCAGATGTTC -3'

Sequencing Primer
(F):5'- GCCCCACAATTCTATTCTGTGTGG -3'
(R):5'- CGGGGCTAAAACTTTACTGGCTC -3'

Posted On

2018-06-22