Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Abca3'

576692

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

045513-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24570997-24629178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24619472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1192 (I1192F)

Ref Sequence

ENSEMBL: ENSMUSP00000045285 (fasta)

Gene Model

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

AlphaFold

Q8R420

Predicted Effect

probably damaging
Transcript: ENSMUST00000039013
AA Change: I1192F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045285
Gene: ENSMUSG00000024130
AA Change: I1192F

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: I1192F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078544
Gene: ENSMUSG00000024130
AA Change: I1192F

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 damaging
Transcript: ENSMUST00000117337
AA Change: I937F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113538
Gene: ENSMUSG00000024130
AA Change: I937F

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

Meta Mutation Damage Score

0.1428

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

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
Abca8a	A	G	11: 109,941,790 (GRCm39)	S1160P	probably benign	Het
Adamtsl2	A	G	2: 26,979,721 (GRCm39)	I297V	probably damaging	Het
Aebp1	T	A	11: 5,819,757 (GRCm39)	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,314,930 (GRCm39)	T28A	probably damaging	Het
Akap3	A	T	6: 126,842,618 (GRCm39)	K412N	probably damaging	Het
Atl1	A	G	12: 69,978,396 (GRCm39)	I123V	probably benign	Het
Atp10a	G	A	7: 58,308,288 (GRCm39)	R29H	unknown	Het
C4b	T	C	17: 34,953,707 (GRCm39)	D967G	probably benign	Het
Ccdc186	T	C	19: 56,795,429 (GRCm39)	N416S	probably damaging	Het
Ccna2	T	C	3: 36,625,239 (GRCm39)		probably benign	Het
Cep70	T	C	9: 99,173,582 (GRCm39)	L371P	probably damaging	Het
Cfap46	A	T	7: 139,230,753 (GRCm39)	C958*	probably null	Het
Crlf2	T	C	5: 109,702,839 (GRCm39)	D318G	probably benign	Het
Csf1	T	C	3: 107,658,072 (GRCm39)	N14D	probably benign	Het
Dars1	A	G	1: 128,299,941 (GRCm39)	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,389,453 (GRCm39)	E813G	probably damaging	Het
Ebi3	T	A	17: 56,261,410 (GRCm39)	M102K	probably benign	Het
Epg5	A	G	18: 78,066,493 (GRCm39)	D2131G	probably benign	Het
Fam186a	A	T	15: 99,840,775 (GRCm39)	L1823H	probably damaging	Het
H2-M3	T	C	17: 37,583,569 (GRCm39)	M309T	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ino80	A	G	2: 119,273,067 (GRCm39)	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,184,417 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,404,687 (GRCm39)	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,488,959 (GRCm39)	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,712,657 (GRCm39)	Y3226N		Het
Lrp1b	G	T	2: 40,712,658 (GRCm39)	D3225E		Het
Megf10	G	C	18: 57,395,203 (GRCm39)	G522R	probably damaging	Het
Nectin2	A	T	7: 19,483,193 (GRCm39)	L12*	probably null	Het
Ngef	A	T	1: 87,408,327 (GRCm39)	M580K	probably damaging	Het
Oga	A	T	19: 45,767,046 (GRCm39)	M110K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,687 (GRCm39)	M205V	probably benign	Het
Or1e1c	A	G	11: 73,265,844 (GRCm39)	S93G	probably benign	Het
Or5an1b	T	C	19: 12,299,472 (GRCm39)	N240D	probably damaging	Het
Pcdhb13	T	C	18: 37,577,728 (GRCm39)	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,619,145 (GRCm39)	I312V	probably benign	Het
Pglyrp3	A	G	3: 91,937,985 (GRCm39)	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,757,421 (GRCm39)	V1539A	probably damaging	Het
Prxl2b	C	A	4: 154,981,053 (GRCm39)	C194F	possibly damaging	Het
Rcn2	T	C	9: 55,965,353 (GRCm39)	L274P	probably damaging	Het
Rpp30	A	G	19: 36,081,838 (GRCm39)	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,289,230 (GRCm39)	M134V	probably damaging	Het
Samd3	A	T	10: 26,146,004 (GRCm39)	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,444 (GRCm39)	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,110,994 (GRCm39)	L604P	probably benign	Het
Strn3	A	T	12: 51,656,946 (GRCm39)	H777Q	probably damaging	Het
Tap1	G	A	17: 34,409,616 (GRCm39)	W284*	probably null	Het
Tlcd5	C	T	9: 43,023,080 (GRCm39)	W91*	probably null	Het
Tmem181a	A	G	17: 6,353,540 (GRCm39)	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,713,368 (GRCm39)	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,560 (GRCm39)	V19M	probably benign	Het
Zfp932	T	A	5: 110,157,880 (GRCm39)	M526K	probably benign	Het
Zfp959	G	T	17: 56,205,334 (GRCm39)	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,346,863 (GRCm39)	S300P	probably benign	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
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
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'- TTCCAGCTCTAATGACCAAGAAAG -3'
(R):5'- AGCAGAGTAAGTGGTTGGCC -3'

Sequencing Primer
(F):5'- GCTCTAATGACCAAGAAAGTGCTC -3'
(R):5'- AGTGGTTGGCCAGTGGC -3'

Posted On

2019-10-07